[ { "query_id": "orph_train_00000", "question": "What is associated with Triggered by stress?", "seeds": [ "Triggered by stress" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00001", "question": "What is associated with Omodysplasia 1?", "seeds": [ "Omodysplasia 1" ], "gold_answer": "Abnormal abdominal wall morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00002", "question": "What phenotype is associated with Wildervanck syndrome?", "seeds": [ "Wildervanck syndrome" ], "gold_answer": "Meningocele", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00003", "question": "What is associated with Tooth abscess?", "seeds": [ "Tooth abscess" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00004", "question": "What is associated with Talipes equinovalgus?", "seeds": [ "Talipes equinovalgus" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00005", "question": "What is associated with Esophagitis?", "seeds": [ "Esophagitis" ], "gold_answer": "Gastrointestinal inflammation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00006", "question": "What is associated with Coronary cameral fistula to right ventricle?", "seeds": [ "Coronary cameral fistula to right ventricle" ], "gold_answer": "Abnormal coronary artery course", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00007", "question": "What is associated with Digenic inheritance?", "seeds": [ "Digenic inheritance" ], "gold_answer": "Non-Mendelian inheritance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00008", "question": "What is associated with Leiomyoma of vulva and esophagus?", "seeds": [ "Leiomyoma of vulva and esophagus" ], "gold_answer": "Increased size of the clitoris", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00009", "question": "What phenotype is associated with Neu-Laxova syndrome 2?", "seeds": [ "Neu-Laxova syndrome 2" ], "gold_answer": "Cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00010", "question": "What is associated with Enlarged epiphyses of the toes?", "seeds": [ "Enlarged epiphyses of the toes" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00011", "question": "What is associated with Testicular microlithiasis?", "seeds": [ "Testicular microlithiasis" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00012", "question": "What is associated with Patchy atrophy of the retinal pigment epithelium?", "seeds": [ "Patchy atrophy of the retinal pigment epithelium" ], "gold_answer": "Retinal pigment epithelial atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00013", "question": "What is associated with Autosomal recessive intermediate Charcot-Marie-Tooth disease type B?", "seeds": [ "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B" ], "gold_answer": "KARS1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00014", "question": "What is associated with Reduced circulating 6-pyruvoyltetrahydropterin synthase activity?", "seeds": [ "Reduced circulating 6-pyruvoyltetrahydropterin synthase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00015", "question": "What is associated with Spicular pigmentation of the retina?", "seeds": [ "Spicular pigmentation of the retina" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00016", "question": "What is associated with Positive direct antiglobulin test?", "seeds": [ "Positive direct antiglobulin test" ], "gold_answer": "Anti-erythrocyte autoantibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00017", "question": "What is associated with Scapuloperoneal weakness?", "seeds": [ "Scapuloperoneal weakness" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00018", "question": "What phenotype is associated with Pontiac fever?", "seeds": [ "Pontiac fever" ], "gold_answer": "Fever", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00019", "question": "What is associated with Episodic pain syndrome, familial, 3?", "seeds": [ "Episodic pain syndrome, familial, 3" ], "gold_answer": "Abnormality of the autonomic nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00020", "question": "What is associated with Fetal distress?", "seeds": [ "Fetal distress" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00021", "question": "What phenotype is associated with Spastic paraplegia 77, autosomal recessive?", "seeds": [ "Spastic paraplegia 77, autosomal recessive" ], "gold_answer": "Upper limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00022", "question": "What is associated with Hypertrichosis?", "seeds": [ "Hypertrichosis" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00023", "question": "What is associated with Aplasia/Hypoplasia involving bones of the feet?", "seeds": [ "Aplasia/Hypoplasia involving bones of the feet" ], "gold_answer": "Aplasia/hypoplasia involving bones of the extremities", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00024", "question": "What is associated with Kleine-Levin hibernation syndrome?", "seeds": [ "Kleine-Levin hibernation syndrome" ], "gold_answer": "Abnormal consumption behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00025", "question": "What is associated with Zimmermann-Laband syndrome 1?", "seeds": [ "Zimmermann-Laband syndrome 1" ], "gold_answer": "Abnormality of mouth shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00026", "question": "What is associated with Nephroblastoma?", "seeds": [ "Nephroblastoma" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00027", "question": "What is associated with Propionyl-CoA carboxylase deficiency?", "seeds": [ "Propionyl-CoA carboxylase deficiency" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00028", "question": "What is associated with Severe combined immunodeficiency due to CTPS1 deficiency?", "seeds": [ "Severe combined immunodeficiency due to CTPS1 deficiency" ], "gold_answer": "CTPS1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_00029", "question": "What is associated with Syringomas, multiple?", "seeds": [ "Syringomas, multiple" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00030", "question": "What is associated with Cortical peritubular capillary lumen organized thrombi?", "seeds": [ "Cortical peritubular capillary lumen organized thrombi" ], "gold_answer": "Abnormal cortical peritubular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00031", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 78?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 78" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00032", "question": "What is associated with Cervical squamous cell papilloma?", "seeds": [ "Cervical squamous cell papilloma" ], "gold_answer": "Abnormality of the uterus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00033", "question": "What is associated with Elevated circulating carcinoma antigen 125 concentration?", "seeds": [ "Elevated circulating carcinoma antigen 125 concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00034", "question": "What is associated with Retinal pigment epithelial atrophy?", "seeds": [ "Retinal pigment epithelial atrophy" ], "gold_answer": "Retinal atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00035", "question": "What is associated with X-linked intellectual disability-cerebellar hypoplasia syndrome?", "seeds": [ "X-linked intellectual disability-cerebellar hypoplasia syndrome" ], "gold_answer": "Abnormal cerebral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00036", "question": "What is associated with Abnormal neuron branching?", "seeds": [ "Abnormal neuron branching" ], "gold_answer": "Abnormal neuron morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00037", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, axonal, type 2II?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2II" ], "gold_answer": "Areflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00038", "question": "What is associated with Vestibular nystagmus?", "seeds": [ "Vestibular nystagmus" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00039", "question": "What is associated with Profound?", "seeds": [ "Profound" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00040", "question": "What phenotype is associated with Long QT syndrome 11?", "seeds": [ "Long QT syndrome 11" ], "gold_answer": "Prolonged QTc interval", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00041", "question": "What is associated with Lichen planus, familial?", "seeds": [ "Lichen planus, familial" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00042", "question": "What is associated with Pulmonary pseudocavity?", "seeds": [ "Pulmonary pseudocavity" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00043", "question": "What is associated with Spermatogenic failure 85?", "seeds": [ "Spermatogenic failure 85" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00044", "question": "What is associated with Familial bicuspid aortic valve?", "seeds": [ "Familial bicuspid aortic valve" ], "gold_answer": "Cardiac valve calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00045", "question": "What is associated with Ameliorated by acetazolamide?", "seeds": [ "Ameliorated by acetazolamide" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00046", "question": "What is associated with Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type?", "seeds": [ "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" ], "gold_answer": "B3GALT6", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00047", "question": "What is associated with Reduced blood 5-methyltetrahydrofolate level?", "seeds": [ "Reduced blood 5-methyltetrahydrofolate level" ], "gold_answer": "Abnormal blood 5-methyltetrahydrofolate level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00048", "question": "What is associated with Absent epiphysis of the proximal phalanx of the 2nd toe?", "seeds": [ "Absent epiphysis of the proximal phalanx of the 2nd toe" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00049", "question": "What phenotype is associated with Immunodeficiency by defective expression of MHC class II?", "seeds": [ "Immunodeficiency by defective expression of MHC class II" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00050", "question": "What is associated with Central retinal vessel vascular tortuosity?", "seeds": [ "Central retinal vessel vascular tortuosity" ], "gold_answer": "Arterial tortuosity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00051", "question": "What is associated with Short stature and facioauriculothoracic malformations?", "seeds": [ "Short stature and facioauriculothoracic malformations" ], "gold_answer": "Supernumerary ribs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00052", "question": "What is associated with 3MC syndrome 1?", "seeds": [ "3MC syndrome 1" ], "gold_answer": "Hypertrichosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00053", "question": "What is associated with Aggravated by activity?", "seeds": [ "Aggravated by activity" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00054", "question": "What is associated with Sclerosis of the middle phalanx of the 2nd finger?", "seeds": [ "Sclerosis of the middle phalanx of the 2nd finger" ], "gold_answer": "Sclerosis of finger phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00055", "question": "What is associated with Depressed glabella?", "seeds": [ "Depressed glabella" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00056", "question": "What is associated with Decreased circulating C1-esterase inhibitor concentration?", "seeds": [ "Decreased circulating C1-esterase inhibitor concentration" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00057", "question": "What is associated with Atrial fibrillation, familial, 11?", "seeds": [ "Atrial fibrillation, familial, 11" ], "gold_answer": "Abnormal left ventricular ejection fraction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00058", "question": "What is associated with Congenital myopathy 25?", "seeds": [ "Congenital myopathy 25" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00059", "question": "What is associated with Recurrent respiratory papillomatosis?", "seeds": [ "Recurrent respiratory papillomatosis" ], "gold_answer": "Pneumonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00060", "question": "What is associated with Aneurysm-osteoarthritis syndrome?", "seeds": [ "Aneurysm-osteoarthritis syndrome" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00061", "question": "What is associated with Ragged-red muscle fibers?", "seeds": [ "Ragged-red muscle fibers" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00062", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, axonal, type 2A1?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2A1" ], "gold_answer": "Pes cavus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00063", "question": "What is associated with Lysosomal acid lipase deficiency?", "seeds": [ "Lysosomal acid lipase deficiency" ], "gold_answer": "Abnormal hepatobiliary system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00064", "question": "What is associated with Progressive night blindness?", "seeds": [ "Progressive night blindness" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00065", "question": "What phenotype is associated with Ellis-Van creveld syndrome?", "seeds": [ "Ellis-Van creveld syndrome" ], "gold_answer": "Short long bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00066", "question": "What is associated with Elevated circulating glutaric acid concentration?", "seeds": [ "Elevated circulating glutaric acid concentration" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00067", "question": "What is associated with Cytologic atypia in mantle cells?", "seeds": [ "Cytologic atypia in mantle cells" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00068", "question": "What is associated with Circumscribed?", "seeds": [ "Circumscribed" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00069", "question": "What is associated with Elevated circulating branched chain amino acid concentration?", "seeds": [ "Elevated circulating branched chain amino acid concentration" ], "gold_answer": "Abnormal circulating branched chain amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00070", "question": "What phenotype is associated with Coffin-siris syndrome 6?", "seeds": [ "Coffin-siris syndrome 6" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00071", "question": "What is associated with Hypoxanthine guanine phosphoribosyltransferase partial deficiency?", "seeds": [ "Hypoxanthine guanine phosphoribosyltransferase partial deficiency" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00072", "question": "What is associated with Typified by somatic mosaicism?", "seeds": [ "Typified by somatic mosaicism" ], "gold_answer": "Inheritance qualifier", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00073", "question": "What phenotype is associated with Trigonocephaly 1?", "seeds": [ "Trigonocephaly 1" ], "gold_answer": "Synophrys", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00074", "question": "What is associated with Proteasome-associated autoinflammatory syndrome?", "seeds": [ "Proteasome-associated autoinflammatory syndrome" ], "gold_answer": "PSMB8", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00075", "question": "What is associated with Increased mannosylation of N-linked protein glycosylation?", "seeds": [ "Increased mannosylation of N-linked protein glycosylation" ], "gold_answer": "Abnormal mannosylation of N-linked protein glycosylation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00076", "question": "What phenotype is associated with Meckel syndrome 13?", "seeds": [ "Meckel syndrome 13" ], "gold_answer": "Occipital encephalocele", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00077", "question": "What is associated with L-2-hydroxyglutaric acidemia?", "seeds": [ "L-2-hydroxyglutaric acidemia" ], "gold_answer": "Abnormal circulating dicarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00078", "question": "What is associated with Intellectual developmental disorder, X-linked syndromic 37?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic 37" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00079", "question": "What is associated with Abnormal cry?", "seeds": [ "Abnormal cry" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00080", "question": "What is associated with Bardet-Biedl syndrome 17?", "seeds": [ "Bardet-Biedl syndrome 17" ], "gold_answer": "Abnormal urine output", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00081", "question": "What is associated with Angioid streaks?", "seeds": [ "Angioid streaks" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00082", "question": "What is associated with Hyposegmentation of neutrophil nuclei?", "seeds": [ "Hyposegmentation of neutrophil nuclei" ], "gold_answer": "Abnormality of neutrophils", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00083", "question": "What is associated with Triangular shaped distal phalanges of the hand?", "seeds": [ "Triangular shaped distal phalanges of the hand" ], "gold_answer": "Triangular shaped phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00084", "question": "What is associated with Shellfish allergy?", "seeds": [ "Shellfish allergy" ], "gold_answer": "Allergy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00085", "question": "What is associated with Membranoproliferative glomerulonephritis?", "seeds": [ "Membranoproliferative glomerulonephritis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00086", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 76?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 76" ], "gold_answer": "Precocious puberty in females", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00087", "question": "What phenotype is associated with Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2?", "seeds": [ "Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2" ], "gold_answer": "Deeply set eye", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00088", "question": "What is associated with Impaired cortisol response to corticotropin releasing hormone stimulation test?", "seeds": [ "Impaired cortisol response to corticotropin releasing hormone stimulation test" ], "gold_answer": "Abnormal endocrine physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00089", "question": "What is associated with Unilateral facial palsy?", "seeds": [ "Unilateral facial palsy" ], "gold_answer": "Facial palsy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00090", "question": "What is associated with Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies?", "seeds": [ "Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies" ], "gold_answer": "Abnormality of salivation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00091", "question": "What is associated with Aplasia/Hypoplasia involving the corticospinal tracts?", "seeds": [ "Aplasia/Hypoplasia involving the corticospinal tracts" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00092", "question": "What is associated with Increased memory T cell proportion?", "seeds": [ "Increased memory T cell proportion" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00093", "question": "What is associated with Calvarial skull defect?", "seeds": [ "Calvarial skull defect" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00094", "question": "What is associated with Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome?", "seeds": [ "Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome" ], "gold_answer": "SRRM2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00095", "question": "What is associated with Basal ganglia calcification, idiopathic, 6?", "seeds": [ "Basal ganglia calcification, idiopathic, 6" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00096", "question": "What is associated with Abnormal ureter physiology?", "seeds": [ "Abnormal ureter physiology" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00097", "question": "What is associated with Heat intolerance?", "seeds": [ "Heat intolerance" ], "gold_answer": "Abnormality of temperature regulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00098", "question": "What is associated with Irregular ossification of the radial metaphysis?", "seeds": [ "Irregular ossification of the radial metaphysis" ], "gold_answer": "Abnormal radial metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00099", "question": "What is associated with Starch intolerance?", "seeds": [ "Starch intolerance" ], "gold_answer": "Malabsorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00100", "question": "What is associated with Bladder pain?", "seeds": [ "Bladder pain" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00101", "question": "What phenotype is associated with Hermansky-Pudlak syndrome 1?", "seeds": [ "Hermansky-Pudlak syndrome 1" ], "gold_answer": "Hypopigmentation of hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00102", "question": "What is associated with Neonatal hypoglycemia?", "seeds": [ "Neonatal hypoglycemia" ], "gold_answer": "Hypoglycemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00103", "question": "What is associated with Flail chest?", "seeds": [ "Flail chest" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00104", "question": "What is associated with Retinitis pigmentosa 7?", "seeds": [ "Retinitis pigmentosa 7" ], "gold_answer": "Abnormal retinal pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00105", "question": "What is associated with Descending aortic dissection?", "seeds": [ "Descending aortic dissection" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00106", "question": "What is associated with Photosensitive tonic-clonic seizure?", "seeds": [ "Photosensitive tonic-clonic seizure" ], "gold_answer": "Bilateral tonic-clonic seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00107", "question": "What is associated with Nummular eczema?", "seeds": [ "Nummular eczema" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00108", "question": "What is associated with Folate-unresponsive megaloblastic anemia?", "seeds": [ "Folate-unresponsive megaloblastic anemia" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00109", "question": "What is associated with Aplasia of the phalanges of the hand?", "seeds": [ "Aplasia of the phalanges of the hand" ], "gold_answer": "Aplasia involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00110", "question": "What is associated with Microcephaly 27, primary, autosomal dominant?", "seeds": [ "Microcephaly 27, primary, autosomal dominant" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00111", "question": "What is associated with Abnormal second toe morphology?", "seeds": [ "Abnormal second toe morphology" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00112", "question": "What is associated with Cone-shaped epiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Cone-shaped epiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Abnormal 4th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00113", "question": "What is associated with Abnormality of dorsoventral patterning of the limbs?", "seeds": [ "Abnormality of dorsoventral patterning of the limbs" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00114", "question": "What is associated with Nail disorder, nonsyndromic congenital, 7?", "seeds": [ "Nail disorder, nonsyndromic congenital, 7" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00115", "question": "What is associated with Nodular melanoma?", "seeds": [ "Nodular melanoma" ], "gold_answer": "Melanoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00116", "question": "What is associated with Orofaciodigital syndrome type 5?", "seeds": [ "Orofaciodigital syndrome type 5" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00117", "question": "What is associated with Dementia?", "seeds": [ "Dementia" ], "gold_answer": "Cognitive impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00118", "question": "What is associated with Cardiac polyglucosan accumulation?", "seeds": [ "Cardiac polyglucosan accumulation" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00119", "question": "What is associated with Short 4th toe?", "seeds": [ "Short 4th toe" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00120", "question": "What is associated with Chondritis?", "seeds": [ "Chondritis" ], "gold_answer": "Abnormal cartilage morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00121", "question": "What is associated with Spermiation failure?", "seeds": [ "Spermiation failure" ], "gold_answer": "Non-obstructive azoospermia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00122", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 63?", "seeds": [ "Autosomal recessive spastic paraplegia type 63" ], "gold_answer": "Abnormal periventricular white matter morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00123", "question": "What is associated with Pouchitis?", "seeds": [ "Pouchitis" ], "gold_answer": "Abnormal large intestine physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00124", "question": "What is associated with Abnormal basal ganglia MRI signal intensity?", "seeds": [ "Abnormal basal ganglia MRI signal intensity" ], "gold_answer": "Abnormal basal ganglia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00125", "question": "What is associated with Increased anti-insect IgE antibody level?", "seeds": [ "Increased anti-insect IgE antibody level" ], "gold_answer": "Abnormal B cell physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00126", "question": "What phenotype is associated with Intrauterine growth retardation with increased mitomycin C sensitivity?", "seeds": [ "Intrauterine growth retardation with increased mitomycin C sensitivity" ], "gold_answer": "Abnormality of chromosome stability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00127", "question": "What is associated with Intralamellar aortic medial fibrosis?", "seeds": [ "Intralamellar aortic medial fibrosis" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00128", "question": "What is associated with Supraventricular arrhythmia?", "seeds": [ "Supraventricular arrhythmia" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00129", "question": "What is associated with Elevated maternal circulating alpha-fetoprotein concentration?", "seeds": [ "Elevated maternal circulating alpha-fetoprotein concentration" ], "gold_answer": "Pregnancy history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00130", "question": "What is associated with Cavitation of the basal ganglia?", "seeds": [ "Cavitation of the basal ganglia" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00131", "question": "What is associated with Reduced tissue neuraminidase activity?", "seeds": [ "Reduced tissue neuraminidase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00132", "question": "What is associated with Increased CSF alpha-aminobutyrate concentration?", "seeds": [ "Increased CSF alpha-aminobutyrate concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00133", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, axonal, type 2P?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2P" ], "gold_answer": "Axonal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00134", "question": "What is associated with Gliosarcoma?", "seeds": [ "Gliosarcoma" ], "gold_answer": "TACC3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_00135", "question": "What phenotype is associated with Retinitis pigmentosa 93?", "seeds": [ "Retinitis pigmentosa 93" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00136", "question": "What is associated with Dacryocytosis?", "seeds": [ "Dacryocytosis" ], "gold_answer": "Poikilocytosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00137", "question": "What is associated with Coronoid fracture?", "seeds": [ "Coronoid fracture" ], "gold_answer": "Fractured forearm bone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00138", "question": "What is associated with Gray matter heterotopia?", "seeds": [ "Gray matter heterotopia" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00139", "question": "What is associated with Hopelessness?", "seeds": [ "Hopelessness" ], "gold_answer": "Abnormal preoccupation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00140", "question": "What is associated with Hirschsprung disease-type D brachydactyly syndrome?", "seeds": [ "Hirschsprung disease-type D brachydactyly syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the hallux", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00141", "question": "What is associated with Mitochondrial encephalopathy?", "seeds": [ "Mitochondrial encephalopathy" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00142", "question": "What is associated with Autosomal recessive Alport syndrome?", "seeds": [ "Autosomal recessive Alport syndrome" ], "gold_answer": "COL4A4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00143", "question": "What is associated with Self-limited epilepsy with centrotemporal spikes?", "seeds": [ "Self-limited epilepsy with centrotemporal spikes" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00144", "question": "What is associated with Opportunistic bacterial infection?", "seeds": [ "Opportunistic bacterial infection" ], "gold_answer": "Opportunistic infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00145", "question": "What is associated with Sinus venosus atrial septal defect?", "seeds": [ "Sinus venosus atrial septal defect" ], "gold_answer": "Atrial septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00146", "question": "What is associated with Sclerosis of the carpal bones?", "seeds": [ "Sclerosis of the carpal bones" ], "gold_answer": "Sclerosis of hand bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00147", "question": "What is associated with Pseudoepiphysis of the proximal phalanx of the thumb?", "seeds": [ "Pseudoepiphysis of the proximal phalanx of the thumb" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00148", "question": "What is associated with Foot joint contracture?", "seeds": [ "Foot joint contracture" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00149", "question": "What is associated with Prenatal flattened diaphragm?", "seeds": [ "Prenatal flattened diaphragm" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00150", "question": "What is associated with Malaise?", "seeds": [ "Malaise" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00151", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2LL?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2LL" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00152", "question": "What is associated with Liver rupture?", "seeds": [ "Liver rupture" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00153", "question": "What is associated with Abnormality of the cell cycle?", "seeds": [ "Abnormality of the cell cycle" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00154", "question": "What is associated with White hair?", "seeds": [ "White hair" ], "gold_answer": "Generalized hypopigmentation of hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00155", "question": "What is associated with Interictal epileptiform activity?", "seeds": [ "Interictal epileptiform activity" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00156", "question": "What is associated with Cock-walk gait?", "seeds": [ "Cock-walk gait" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00157", "question": "What is associated with Decreased number of large peripheral myelinated nerve fibers?", "seeds": [ "Decreased number of large peripheral myelinated nerve fibers" ], "gold_answer": "Decreased number of peripheral myelinated nerve fibers", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00158", "question": "What is associated with Anterior predominant thick cortex pachygyria?", "seeds": [ "Anterior predominant thick cortex pachygyria" ], "gold_answer": "Thick pachygyria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00159", "question": "What is associated with Blepharophimosis-impaired intellectual development syndrome?", "seeds": [ "Blepharophimosis-impaired intellectual development syndrome" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00160", "question": "What is associated with Abnormal cortical radial artery intima/media morphology?", "seeds": [ "Abnormal cortical radial artery intima/media morphology" ], "gold_answer": "Abnormal intrarenal artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00161", "question": "What is associated with Recurrent pneumonia?", "seeds": [ "Recurrent pneumonia" ], "gold_answer": "Pneumonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00162", "question": "What is associated with Chromosome Xq13 duplication syndrome?", "seeds": [ "Chromosome Xq13 duplication syndrome" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00163", "question": "What is associated with Leukodystrophy, hypomyelinating, 9?", "seeds": [ "Leukodystrophy, hypomyelinating, 9" ], "gold_answer": "Dysphagia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00164", "question": "What is associated with Leukocyte adhesion deficiency type III?", "seeds": [ "Leukocyte adhesion deficiency type III" ], "gold_answer": "FERMT3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_00165", "question": "What is associated with Alveolar ridge overgrowth?", "seeds": [ "Alveolar ridge overgrowth" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00166", "question": "What is associated with Knuckle pads?", "seeds": [ "Knuckle pads" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00167", "question": "What is associated with Focal impaired awareness cognitive seizure?", "seeds": [ "Focal impaired awareness cognitive seizure" ], "gold_answer": "Focal impaired awareness non-motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00168", "question": "What is associated with Abnormal muscle fiber protein expression?", "seeds": [ "Abnormal muscle fiber protein expression" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00169", "question": "What is associated with Vestibular saccular degeneration?", "seeds": [ "Vestibular saccular degeneration" ], "gold_answer": "Abnormal morphology of the vestibule of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00170", "question": "What is associated with Progressive ptosis?", "seeds": [ "Progressive ptosis" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00171", "question": "What is associated with Reduced prothrombin consumption?", "seeds": [ "Reduced prothrombin consumption" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00172", "question": "What phenotype is associated with Dystonia 24?", "seeds": [ "Dystonia 24" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00173", "question": "What is associated with Lowe syndrome?", "seeds": [ "Lowe syndrome" ], "gold_answer": "Central nervous system cyst", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00174", "question": "What is associated with History of recent intermittent breastfeeding?", "seeds": [ "History of recent intermittent breastfeeding" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00175", "question": "What is associated with Abdominal wall muscle weakness?", "seeds": [ "Abdominal wall muscle weakness" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00176", "question": "What is associated with Elevated urinary creatine level?", "seeds": [ "Elevated urinary creatine level" ], "gold_answer": "Abnormal urinary organic compound level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00177", "question": "What is associated with Uncombable hair syndrome 2?", "seeds": [ "Uncombable hair syndrome 2" ], "gold_answer": "Abnormal hairshaft morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00178", "question": "What is associated with Increased neuronal autofluorescent lipopigment?", "seeds": [ "Increased neuronal autofluorescent lipopigment" ], "gold_answer": "Increased cerebral lipofuscin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00179", "question": "What is associated with Macular dystrophy, retinal, 3?", "seeds": [ "Macular dystrophy, retinal, 3" ], "gold_answer": "Drusen", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00180", "question": "What is associated with Addictive substance use?", "seeds": [ "Addictive substance use" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00181", "question": "What is associated with Terminal hepatic lobular vascular occlusion?", "seeds": [ "Terminal hepatic lobular vascular occlusion" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00182", "question": "What phenotype is associated with Follicular lymphoma, susceptibility to, 1?", "seeds": [ "Follicular lymphoma, susceptibility to, 1" ], "gold_answer": "Follicular lymphoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00183", "question": "What is associated with 22q11.2 deletion syndrome?", "seeds": [ "22q11.2 deletion syndrome" ], "gold_answer": "Abnormal lung development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00184", "question": "What phenotype is associated with Myopathy, myosin storage, autosomal dominant?", "seeds": [ "Myopathy, myosin storage, autosomal dominant" ], "gold_answer": "Neck flexor weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00185", "question": "What is associated with Spinal and bulbar muscular atrophy, X-linked 1?", "seeds": [ "Spinal and bulbar muscular atrophy, X-linked 1" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00186", "question": "What phenotype is associated with Thyroid hormone metabolism, abnormal?", "seeds": [ "Thyroid hormone metabolism, abnormal" ], "gold_answer": "Delayed skeletal maturation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00187", "question": "What is associated with Platystencephaly?", "seeds": [ "Platystencephaly" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00188", "question": "What is associated with Oral synechia?", "seeds": [ "Oral synechia" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00189", "question": "What is associated with Convulsions, familial infantile, with paroxysmal choreoathetosis?", "seeds": [ "Convulsions, familial infantile, with paroxysmal choreoathetosis" ], "gold_answer": "Athetosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00190", "question": "What is associated with Epilepsy, nocturnal frontal lobe, type 1?", "seeds": [ "Epilepsy, nocturnal frontal lobe, type 1" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00191", "question": "What is associated with Hemolytic anemia?", "seeds": [ "Hemolytic anemia" ], "gold_answer": "Anemia due to reduced life span of red cells", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00192", "question": "What is associated with Cataract 13 with adult i phenotype?", "seeds": [ "Cataract 13 with adult i phenotype" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00193", "question": "What is associated with Aberrant melanosome maturation?", "seeds": [ "Aberrant melanosome maturation" ], "gold_answer": "Abnormality of dermal melanosomes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00194", "question": "What is associated with Smooth philtrum?", "seeds": [ "Smooth philtrum" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00195", "question": "What is associated with Microform bilateral cleft lip?", "seeds": [ "Microform bilateral cleft lip" ], "gold_answer": "Non-midline cleft of the upper lip", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00196", "question": "What is associated with Muscle fiber intracytoplasmic reducing inclusion bodies?", "seeds": [ "Muscle fiber intracytoplasmic reducing inclusion bodies" ], "gold_answer": "Muscle fiber cytoplasmatic inclusion bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00197", "question": "What phenotype is associated with Ramon syndrome?", "seeds": [ "Ramon syndrome" ], "gold_answer": "Hypertrichosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00198", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 108?", "seeds": [ "Developmental and epileptic encephalopathy 108" ], "gold_answer": "Focal impaired awareness seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00199", "question": "What is associated with Genochondromatosis type 1?", "seeds": [ "Genochondromatosis type 1" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00200", "question": "What phenotype is associated with Multiple enchondromatosis, Maffucci type?", "seeds": [ "Multiple enchondromatosis, Maffucci type" ], "gold_answer": "Hemangioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00201", "question": "What is associated with Abnormal HDL3a concentration?", "seeds": [ "Abnormal HDL3a concentration" ], "gold_answer": "Abnormal HDL subfraction concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00202", "question": "What is associated with Otitis media?", "seeds": [ "Otitis media" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00203", "question": "What phenotype is associated with Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome?", "seeds": [ "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00204", "question": "What is associated with Small epiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Small epiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Abnormality of the epiphysis of the middle phalanx of the 4th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00205", "question": "What is associated with Tubulonodular pericallosal lipoma?", "seeds": [ "Tubulonodular pericallosal lipoma" ], "gold_answer": "Pericallosal lipoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00206", "question": "What is associated with Encephalopathy, progressive, early-onset, with brain atrophy and spasticity?", "seeds": [ "Encephalopathy, progressive, early-onset, with brain atrophy and spasticity" ], "gold_answer": "EEG with generalized epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00207", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00208", "question": "What phenotype is associated with Amyotrophic lateral sclerosis 21?", "seeds": [ "Amyotrophic lateral sclerosis 21" ], "gold_answer": "Bowing of the vocal cords", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00209", "question": "What is associated with Waardenburg syndrome type 2?", "seeds": [ "Waardenburg syndrome type 2" ], "gold_answer": "SNAI2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00210", "question": "What is associated with Positive meconium methadone test?", "seeds": [ "Positive meconium methadone test" ], "gold_answer": "Meconium xenobiotic", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00211", "question": "What is associated with Elevated urinary creatine/creatinine ratio?", "seeds": [ "Elevated urinary creatine/creatinine ratio" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00212", "question": "What is associated with Patchy sclerosis of the distal phalanx of the 4th finger?", "seeds": [ "Patchy sclerosis of the distal phalanx of the 4th finger" ], "gold_answer": "Patchy sclerosis of finger phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00213", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 6?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 6" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00214", "question": "What is associated with Fractured 1st metacarpal?", "seeds": [ "Fractured 1st metacarpal" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00215", "question": "What is associated with Triceps hyporeflexia?", "seeds": [ "Triceps hyporeflexia" ], "gold_answer": "Hyporeflexia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00216", "question": "What is associated with Pachyonychia congenita?", "seeds": [ "Pachyonychia congenita" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00217", "question": "What is associated with Rightward direction of ventricular apex?", "seeds": [ "Rightward direction of ventricular apex" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00218", "question": "What is associated with Nodular pattern on pulmonary HRCT?", "seeds": [ "Nodular pattern on pulmonary HRCT" ], "gold_answer": "Abnormal pulmonary thoracic imaging finding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00219", "question": "What phenotype is associated with Myopia 26, X-linked, female-limited?", "seeds": [ "Myopia 26, X-linked, female-limited" ], "gold_answer": "High myopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00220", "question": "What is associated with Taurodontia?", "seeds": [ "Taurodontia" ], "gold_answer": "Abnormality of molar", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00221", "question": "What phenotype is associated with ANDROSTENONE, ABILITY TO SMELL?", "seeds": [ "ANDROSTENONE, ABILITY TO SMELL" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00222", "question": "What is associated with Absent Birbeck granules in Langerhans cells?", "seeds": [ "Absent Birbeck granules in Langerhans cells" ], "gold_answer": "Abnormal cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00223", "question": "What is associated with Degeneration of anterior horn cells?", "seeds": [ "Degeneration of anterior horn cells" ], "gold_answer": "Abnormal anterior horn cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00224", "question": "What is associated with Reduced response to gonadotropin-releasing hormone stimulation test?", "seeds": [ "Reduced response to gonadotropin-releasing hormone stimulation test" ], "gold_answer": "Abnormal response to gonadotropin-releasing hormone stimulation test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00225", "question": "What is associated with Angiostrongyliasis?", "seeds": [ "Angiostrongyliasis" ], "gold_answer": "Nausea and vomiting", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00226", "question": "What is associated with Myocardial immune cell infiltration?", "seeds": [ "Myocardial immune cell infiltration" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00227", "question": "What is associated with Lack of peer relationships?", "seeds": [ "Lack of peer relationships" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00228", "question": "What is associated with Impaired ocular abduction?", "seeds": [ "Impaired ocular abduction" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00229", "question": "What is associated with Pinealoma?", "seeds": [ "Pinealoma" ], "gold_answer": "Neuroepithelial neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00230", "question": "What phenotype is associated with Nephronophthisis 11?", "seeds": [ "Nephronophthisis 11" ], "gold_answer": "Renal corticomedullary cysts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00231", "question": "What is associated with Dental root fusion?", "seeds": [ "Dental root fusion" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00232", "question": "What is associated with Sclerosis of the 1st metatarsal?", "seeds": [ "Sclerosis of the 1st metatarsal" ], "gold_answer": "Sclerosis of hallux phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00233", "question": "What is associated with Spermatogenic failure 11?", "seeds": [ "Spermatogenic failure 11" ], "gold_answer": "Infertility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00234", "question": "What is associated with Cervical segmentation defect?", "seeds": [ "Cervical segmentation defect" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00235", "question": "What is associated with Acrodermatitis enteropathica, Zinc-Deficiency type?", "seeds": [ "Acrodermatitis enteropathica, Zinc-Deficiency type" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00236", "question": "What is associated with Perisylvian FDG hypermetabolism?", "seeds": [ "Perisylvian FDG hypermetabolism" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00237", "question": "What phenotype is associated with Multicystic dysplastic kidney?", "seeds": [ "Multicystic dysplastic kidney" ], "gold_answer": "Ureteral agenesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00238", "question": "What phenotype is associated with Kabuki syndrome 1?", "seeds": [ "Kabuki syndrome 1" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00239", "question": "What is associated with NAILBEDS, PIGMENTATION OF?", "seeds": [ "NAILBEDS, PIGMENTATION OF" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00240", "question": "What is associated with Lipodystrophy, familial partial, type 1?", "seeds": [ "Lipodystrophy, familial partial, type 1" ], "gold_answer": "Diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00241", "question": "What is associated with Reticulocytopenia?", "seeds": [ "Reticulocytopenia" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00242", "question": "What is associated with Vowel expressive impediment?", "seeds": [ "Vowel expressive impediment" ], "gold_answer": "Speech articulation difficulties", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00243", "question": "What is associated with Ruffled acrosome?", "seeds": [ "Ruffled acrosome" ], "gold_answer": "Abnormal sperm head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00244", "question": "What is associated with Contracture of the distal interphalangeal joint of the 2nd finger?", "seeds": [ "Contracture of the distal interphalangeal joint of the 2nd finger" ], "gold_answer": "Flexion contracture of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00245", "question": "What is associated with Calf muscle pseudohypertrophy?", "seeds": [ "Calf muscle pseudohypertrophy" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00246", "question": "What is associated with Triggered by viral infection?", "seeds": [ "Triggered by viral infection" ], "gold_answer": "Triggered by infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00247", "question": "What is associated with Duplicated colon?", "seeds": [ "Duplicated colon" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00248", "question": "What is associated with Juvenile type testicular granulosa cell tumor?", "seeds": [ "Juvenile type testicular granulosa cell tumor" ], "gold_answer": "Gonadal neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00249", "question": "What is associated with EEG with parietal sharp slow waves?", "seeds": [ "EEG with parietal sharp slow waves" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00250", "question": "What is associated with Osteodysplasty, precocious, of danks, mayne, and kozlowski?", "seeds": [ "Osteodysplasty, precocious, of danks, mayne, and kozlowski" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00251", "question": "What is associated with T2 hypointense basal ganglia?", "seeds": [ "T2 hypointense basal ganglia" ], "gold_answer": "Abnormal basal ganglia MRI signal intensity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00252", "question": "What is associated with Contracture of the interphalangeal joint of the hallux?", "seeds": [ "Contracture of the interphalangeal joint of the hallux" ], "gold_answer": "Flexion contracture of toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00253", "question": "What phenotype is associated with Deafness, autosomal dominant 84?", "seeds": [ "Deafness, autosomal dominant 84" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00254", "question": "What is associated with Conspicuously happy disposition?", "seeds": [ "Conspicuously happy disposition" ], "gold_answer": "Abnormal demeanor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00255", "question": "What is associated with Wide proximal femoral metaphysis?", "seeds": [ "Wide proximal femoral metaphysis" ], "gold_answer": "Abnormal femoral metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00256", "question": "What is associated with INCISORS, LONG UPPER CENTRAL?", "seeds": [ "INCISORS, LONG UPPER CENTRAL" ], "gold_answer": "Incisor macrodontia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00257", "question": "What is associated with Enlarged epiphyses of the 4th finger?", "seeds": [ "Enlarged epiphyses of the 4th finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00258", "question": "What is associated with Vaginal pyocele?", "seeds": [ "Vaginal pyocele" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00259", "question": "What is associated with Anti-streptococcus deoxyribonuclease-B antibody positivity?", "seeds": [ "Anti-streptococcus deoxyribonuclease-B antibody positivity" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00260", "question": "What is associated with Ivory epiphysis of the proximal phalanx of the 2nd toe?", "seeds": [ "Ivory epiphysis of the proximal phalanx of the 2nd toe" ], "gold_answer": "Ivory epiphyses of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00261", "question": "What is associated with Dysplastic corpus callosum?", "seeds": [ "Dysplastic corpus callosum" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00262", "question": "What is associated with Positive oropharynx poliovirus nucleic acid test?", "seeds": [ "Positive oropharynx poliovirus nucleic acid test" ], "gold_answer": "Positive oropharangeal infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00263", "question": "What phenotype is associated with Genitourinary tract anomalies?", "seeds": [ "Genitourinary tract anomalies" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00264", "question": "What is associated with Dentinogenesis imperfecta limited to primary teeth?", "seeds": [ "Dentinogenesis imperfecta limited to primary teeth" ], "gold_answer": "Dentinogenesis imperfecta", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00265", "question": "What is associated with Neoplasm of the rectum?", "seeds": [ "Neoplasm of the rectum" ], "gold_answer": "Abnormal large intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00266", "question": "What is associated with Mosaic trisomy 3 syndrome?", "seeds": [ "Mosaic trisomy 3 syndrome" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00267", "question": "What is associated with Abnormal muscle fiber merosin expression?", "seeds": [ "Abnormal muscle fiber merosin expression" ], "gold_answer": "Abnormal muscle fiber protein expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00268", "question": "What is associated with Lower eyelid edema?", "seeds": [ "Lower eyelid edema" ], "gold_answer": "Palpebral edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00269", "question": "What is associated with Triangular epiphyses of the phalanges of the hand?", "seeds": [ "Triangular epiphyses of the phalanges of the hand" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00270", "question": "What is associated with Decreased glucose-6-phosphate dehydrogenase level in dried blood spot?", "seeds": [ "Decreased glucose-6-phosphate dehydrogenase level in dried blood spot" ], "gold_answer": "Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00271", "question": "What is associated with Hernia?", "seeds": [ "Hernia" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00272", "question": "What is associated with Progressive distal muscular atrophy?", "seeds": [ "Progressive distal muscular atrophy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00273", "question": "What is associated with Cervical spondylosis?", "seeds": [ "Cervical spondylosis" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00274", "question": "What is associated with Contracture of the proximal interphalangeal joint of the 2nd toe?", "seeds": [ "Contracture of the proximal interphalangeal joint of the 2nd toe" ], "gold_answer": "Abnormal second toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00275", "question": "What is associated with Central sleep apnea?", "seeds": [ "Central sleep apnea" ], "gold_answer": "Sleep-related breathing disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00276", "question": "What is associated with Beaded vitreous appearance?", "seeds": [ "Beaded vitreous appearance" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00277", "question": "What is associated with Reduced circulating leukotriene C4 concentration?", "seeds": [ "Reduced circulating leukotriene C4 concentration" ], "gold_answer": "Abnormal circulating unsaturated fatty acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00278", "question": "What is associated with Small epiphyses of the 2nd toe?", "seeds": [ "Small epiphyses of the 2nd toe" ], "gold_answer": "Abnormality of the epiphyses of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00279", "question": "What is associated with Prolonged bleeding time?", "seeds": [ "Prolonged bleeding time" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00280", "question": "What is associated with Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome?", "seeds": [ "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome" ], "gold_answer": "Abnormality of the chin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00281", "question": "What is associated with Hypopituitarism?", "seeds": [ "Hypopituitarism" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00282", "question": "What is associated with Pattern dystrophy of the retina?", "seeds": [ "Pattern dystrophy of the retina" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00283", "question": "What is associated with Abnormal platelet lysosome secretion?", "seeds": [ "Abnormal platelet lysosome secretion" ], "gold_answer": "Abnormal platelet function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00284", "question": "What is associated with Advanced pneumatization of the mastoid process?", "seeds": [ "Advanced pneumatization of the mastoid process" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00285", "question": "What is associated with Extremely preterm birth?", "seeds": [ "Extremely preterm birth" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00286", "question": "What is associated with Charcot-Marie-Tooth disease, type 4D?", "seeds": [ "Charcot-Marie-Tooth disease, type 4D" ], "gold_answer": "Abnormality of refraction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00287", "question": "What is associated with Testicular neoplasm?", "seeds": [ "Testicular neoplasm" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00288", "question": "What is associated with Volar wrist pain?", "seeds": [ "Volar wrist pain" ], "gold_answer": "Limb pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00289", "question": "What is associated with Impacted tooth?", "seeds": [ "Impacted tooth" ], "gold_answer": "Abnormality of dental eruption", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00290", "question": "What is associated with Osteolytic defects of the phalanges of the 3rd finger?", "seeds": [ "Osteolytic defects of the phalanges of the 3rd finger" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00291", "question": "What is associated with Pseudo-fractures?", "seeds": [ "Pseudo-fractures" ], "gold_answer": "Abnormal bone structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00292", "question": "What is associated with Aplasia of the musculature?", "seeds": [ "Aplasia of the musculature" ], "gold_answer": "Abnormality of muscle size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00293", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 9/26?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 9/26" ], "gold_answer": "Severe intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00294", "question": "What is associated with Clinodactyly of the 4th toe?", "seeds": [ "Clinodactyly of the 4th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00295", "question": "What is associated with Abnormal dark-adapted bright flash electroretinogram?", "seeds": [ "Abnormal dark-adapted bright flash electroretinogram" ], "gold_answer": "Abnormal dark-adapted electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00296", "question": "What is associated with Coffin-Siris syndrome 11?", "seeds": [ "Coffin-Siris syndrome 11" ], "gold_answer": "Abnormal shape of the frontal region", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00297", "question": "What is associated with Increased circulating aspartic acid concentration?", "seeds": [ "Increased circulating aspartic acid concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00298", "question": "What is associated with Intrauterine limb amputation?", "seeds": [ "Intrauterine limb amputation" ], "gold_answer": "Intrauterine amputation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00299", "question": "What is associated with Leukotriene C4 synthase deficiency?", "seeds": [ "Leukotriene C4 synthase deficiency" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00300", "question": "What is associated with Undermodeled humerus?", "seeds": [ "Undermodeled humerus" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00301", "question": "What phenotype is associated with Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome?", "seeds": [ "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome" ], "gold_answer": "EMG: chronic denervation signs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00302", "question": "What is associated with Hypoplastic sacrum?", "seeds": [ "Hypoplastic sacrum" ], "gold_answer": "Aplasia/Hypoplasia involving the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00303", "question": "What is associated with Aplasia/Hypoplasia of the fallopian tube?", "seeds": [ "Aplasia/Hypoplasia of the fallopian tube" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00304", "question": "What is associated with Increased HbA2 hemoglobin?", "seeds": [ "Increased HbA2 hemoglobin" ], "gold_answer": "Abnormal hemoglobin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00305", "question": "What is associated with Increased circulating myristoleate level?", "seeds": [ "Increased circulating myristoleate level" ], "gold_answer": "Abnormal circulating long-chain fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00306", "question": "What is associated with Confluent hypointensity of cerebral white matter on MRI?", "seeds": [ "Confluent hypointensity of cerebral white matter on MRI" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00307", "question": "What is associated with Compound motor action potential abnormality?", "seeds": [ "Compound motor action potential abnormality" ], "gold_answer": "Abnormal nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00308", "question": "What is associated with Abnormal myeloid cell morphology?", "seeds": [ "Abnormal myeloid cell morphology" ], "gold_answer": "Abnormal bone marrow cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00309", "question": "What is associated with Intracranial hemorrhage?", "seeds": [ "Intracranial hemorrhage" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00310", "question": "What is associated with Cutaneous sclerotic plaque?", "seeds": [ "Cutaneous sclerotic plaque" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00311", "question": "What is associated with Microcephaly and chorioretinopathy, autosomal recessive, 3?", "seeds": [ "Microcephaly and chorioretinopathy, autosomal recessive, 3" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00312", "question": "What is associated with Abnormal pelvic girdle bone morphology?", "seeds": [ "Abnormal pelvic girdle bone morphology" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00313", "question": "What phenotype is associated with Bohring-Opitz syndrome?", "seeds": [ "Bohring-Opitz syndrome" ], "gold_answer": "Progressive visual loss", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00314", "question": "What is associated with Incomplete ossification of palatine bone?", "seeds": [ "Incomplete ossification of palatine bone" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00315", "question": "What is associated with Pseudoxanthomatous diffuse cutaneous mastocytosis?", "seeds": [ "Pseudoxanthomatous diffuse cutaneous mastocytosis" ], "gold_answer": "Mastocytosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00316", "question": "What is associated with Lumbosacral hemangioma?", "seeds": [ "Lumbosacral hemangioma" ], "gold_answer": "Hemangioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00317", "question": "What is associated with Atrial septal defect, ostium primum type?", "seeds": [ "Atrial septal defect, ostium primum type" ], "gold_answer": "Abnormal atrioventricular conduction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00318", "question": "What phenotype is associated with CHILD syndrome?", "seeds": [ "CHILD syndrome" ], "gold_answer": "Multiple joint contractures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00319", "question": "What is associated with Intellectual developmental disorder with language impairment with or without autistic features?", "seeds": [ "Intellectual developmental disorder with language impairment with or without autistic features" ], "gold_answer": "Increased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00320", "question": "What is associated with Impaired renal tubular reabsorption of low molecular weight protein?", "seeds": [ "Impaired renal tubular reabsorption of low molecular weight protein" ], "gold_answer": "Renal tubular dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00321", "question": "What phenotype is associated with Congenital myopathy 26?", "seeds": [ "Congenital myopathy 26" ], "gold_answer": "Distal upper limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00322", "question": "What is associated with Near exotropia?", "seeds": [ "Near exotropia" ], "gold_answer": "Exodeviation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00323", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 27?", "seeds": [ "Autosomal recessive spastic paraplegia type 27" ], "gold_answer": "Abnormality of somatosensory evoked potentials", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00324", "question": "What is associated with Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset?", "seeds": [ "Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00325", "question": "What is associated with Mastocytosis, cutaneous?", "seeds": [ "Mastocytosis, cutaneous" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00326", "question": "What is associated with Glomerular basement membrane disruption?", "seeds": [ "Glomerular basement membrane disruption" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00327", "question": "What is associated with GNB5-related intellectual disability-cardiac arrhythmia syndrome?", "seeds": [ "GNB5-related intellectual disability-cardiac arrhythmia syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00328", "question": "What is associated with Tracheal agenesis?", "seeds": [ "Tracheal agenesis" ], "gold_answer": "Abnormal lung development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00329", "question": "What is associated with 1p21.3 microdeletion syndrome?", "seeds": [ "1p21.3 microdeletion syndrome" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00330", "question": "What phenotype is associated with Short-Rib thoracic dysplasia 14 with polydactyly?", "seeds": [ "Short-Rib thoracic dysplasia 14 with polydactyly" ], "gold_answer": "Intestinal malrotation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00331", "question": "What is associated with Microtia-anotia?", "seeds": [ "Microtia-anotia" ], "gold_answer": "Abnormal penis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00332", "question": "What is associated with Short phalanx of the thumb?", "seeds": [ "Short phalanx of the thumb" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00333", "question": "What is associated with Congenital fibrosis of extraocular muscles?", "seeds": [ "Congenital fibrosis of extraocular muscles" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00334", "question": "What is associated with Broad forehead?", "seeds": [ "Broad forehead" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00335", "question": "What is associated with Agammaglobulinemia 4, autosomal recessive?", "seeds": [ "Agammaglobulinemia 4, autosomal recessive" ], "gold_answer": "Abnormal circulating IgM concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00336", "question": "What is associated with Faundes-Banka syndrome?", "seeds": [ "Faundes-Banka syndrome" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00337", "question": "What phenotype is associated with Lethal ataxia with deafness and optic atrophy?", "seeds": [ "Lethal ataxia with deafness and optic atrophy" ], "gold_answer": "Blindness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00338", "question": "What is associated with Atopic dermatitis?", "seeds": [ "Atopic dermatitis" ], "gold_answer": "Eczematoid dermatitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00339", "question": "What is associated with Abnormal odontoid tissue morphology?", "seeds": [ "Abnormal odontoid tissue morphology" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00340", "question": "What is associated with Prominent supraorbital arches in adult?", "seeds": [ "Prominent supraorbital arches in adult" ], "gold_answer": "Abnormality of the periorbital region", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00341", "question": "What is associated with Lymphatic malformation 2?", "seeds": [ "Lymphatic malformation 2" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00342", "question": "What is associated with Triggered by monoamine oxidase inhibitor?", "seeds": [ "Triggered by monoamine oxidase inhibitor" ], "gold_answer": "Triggered by exposure to medication", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00343", "question": "What phenotype is associated with Atrial fibrillation, familial, 3?", "seeds": [ "Atrial fibrillation, familial, 3" ], "gold_answer": "Atrial fibrillation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00344", "question": "What phenotype is associated with Birt-Hogg-Dube syndrome?", "seeds": [ "Birt-Hogg-Dube syndrome" ], "gold_answer": "Cutaneous leiomyosarcoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00345", "question": "What is associated with Fractured lateral malleolus of fibula?", "seeds": [ "Fractured lateral malleolus of fibula" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00346", "question": "What is associated with Decreased skull ossification?", "seeds": [ "Decreased skull ossification" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00347", "question": "What is associated with Giant hypertrophic gastritis?", "seeds": [ "Giant hypertrophic gastritis" ], "gold_answer": "Abnormal stomach morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00348", "question": "What phenotype is associated with LARYNGOMALACIA?", "seeds": [ "LARYNGOMALACIA" ], "gold_answer": "Respiratory distress", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00349", "question": "What is associated with Sclerotic vertebral body?", "seeds": [ "Sclerotic vertebral body" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00350", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00351", "question": "What is associated with Trigonocephaly with short stature and developmental delay?", "seeds": [ "Trigonocephaly with short stature and developmental delay" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00352", "question": "What is associated with Increased circulating interleukin 22 concentration?", "seeds": [ "Increased circulating interleukin 22 concentration" ], "gold_answer": "Abnormal circulating interleukin 22 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00353", "question": "What is associated with Dumbbell-shaped metaphyses?", "seeds": [ "Dumbbell-shaped metaphyses" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00354", "question": "What is associated with Hip internal rotation contracture?", "seeds": [ "Hip internal rotation contracture" ], "gold_answer": "Abnormal hip joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00355", "question": "What is associated with Ulnar deviation of the hand or of fingers of the hand?", "seeds": [ "Ulnar deviation of the hand or of fingers of the hand" ], "gold_answer": "Deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00356", "question": "What is associated with Aplasia of the parotid gland?", "seeds": [ "Aplasia of the parotid gland" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00357", "question": "What is associated with Widely-spaced incisors?", "seeds": [ "Widely-spaced incisors" ], "gold_answer": "Misalignment of incisors", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00358", "question": "What is associated with Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome?", "seeds": [ "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" ], "gold_answer": "RFX6", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00359", "question": "What is associated with Candida esophagitis?", "seeds": [ "Candida esophagitis" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00360", "question": "What is associated with Fetal intraventricular hemorrhage with ventriculomegaly?", "seeds": [ "Fetal intraventricular hemorrhage with ventriculomegaly" ], "gold_answer": "Fetal intracranial hemorrhage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00361", "question": "What is associated with Abnormal liver lobulation?", "seeds": [ "Abnormal liver lobulation" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00362", "question": "What is associated with Impaired Ig class switch recombination?", "seeds": [ "Impaired Ig class switch recombination" ], "gold_answer": "Abnormal leukocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00363", "question": "What is associated with Shortening of all middle phalanges of the toes?", "seeds": [ "Shortening of all middle phalanges of the toes" ], "gold_answer": "Abnormality of the middle phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00364", "question": "What is associated with Hemihypertrophy of lower limb?", "seeds": [ "Hemihypertrophy of lower limb" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00365", "question": "What is associated with Acrorenal syndrome?", "seeds": [ "Acrorenal syndrome" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00366", "question": "What is associated with Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome?", "seeds": [ "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00367", "question": "What is associated with Aplasia of the 1st metacarpal?", "seeds": [ "Aplasia of the 1st metacarpal" ], "gold_answer": "Aplasia/Hypoplasia of the thumb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00368", "question": "What is associated with Myofibromatosis, infantile, 1?", "seeds": [ "Myofibromatosis, infantile, 1" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00369", "question": "What is associated with Small intestinal stenosis?", "seeds": [ "Small intestinal stenosis" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00370", "question": "What is associated with Glomerular extracapillary fibrin?", "seeds": [ "Glomerular extracapillary fibrin" ], "gold_answer": "Abnormal Bowman space morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00371", "question": "What is associated with Epileptic encephalopathy, early infantile, 43?", "seeds": [ "Epileptic encephalopathy, early infantile, 43" ], "gold_answer": "Non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00372", "question": "What is associated with Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease?", "seeds": [ "Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease" ], "gold_answer": "LMO1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_00373", "question": "What is associated with Sensory exotropia?", "seeds": [ "Sensory exotropia" ], "gold_answer": "Exotropia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00374", "question": "What is associated with Oculocerebral hypopigmentation syndrome, Preus type?", "seeds": [ "Oculocerebral hypopigmentation syndrome, Preus type" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00375", "question": "What is associated with Secretory IgA deficiency?", "seeds": [ "Secretory IgA deficiency" ], "gold_answer": "Decreased immunoglobulin level in body fluid", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00376", "question": "What is associated with Poirier-Bienvenu neurodevelopmental syndrome?", "seeds": [ "Poirier-Bienvenu neurodevelopmental syndrome" ], "gold_answer": "Abnormality of the tongue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00377", "question": "What is associated with Cortically dense long tubular bones?", "seeds": [ "Cortically dense long tubular bones" ], "gold_answer": "Thickened cortex of long bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00378", "question": "What phenotype is associated with Mitochondrial complex IV deficiency, nuclear type 16?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 16" ], "gold_answer": "Poor head control", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00379", "question": "What is associated with Senior-Loken syndrome 3?", "seeds": [ "Senior-Loken syndrome 3" ], "gold_answer": "Chronic kidney disease", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00380", "question": "What is associated with Duplicated tragus?", "seeds": [ "Duplicated tragus" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00381", "question": "What is associated with Citrullinemia, type II, adult-onset?", "seeds": [ "Citrullinemia, type II, adult-onset" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00382", "question": "What is associated with Branchiootorenal syndrome 1?", "seeds": [ "Branchiootorenal syndrome 1" ], "gold_answer": "Skin tags", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00383", "question": "What phenotype is associated with Lipodystrophy, congenital generalized, type 3?", "seeds": [ "Lipodystrophy, congenital generalized, type 3" ], "gold_answer": "Acanthosis nigricans", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00384", "question": "What is associated with Deep neck abscess?", "seeds": [ "Deep neck abscess" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00385", "question": "What phenotype is associated with Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome?", "seeds": [ "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome" ], "gold_answer": "Hypospadias", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00386", "question": "What phenotype is associated with Citrullinemia, type II, neonatal-onset?", "seeds": [ "Citrullinemia, type II, neonatal-onset" ], "gold_answer": "Hyperlysinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00387", "question": "What is associated with Hirschsprung disease-deafness-polydactyly syndrome?", "seeds": [ "Hirschsprung disease-deafness-polydactyly syndrome" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00388", "question": "What is associated with Beau's lines?", "seeds": [ "Beau's lines" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00389", "question": "What is associated with Teebi-Shaltout syndrome?", "seeds": [ "Teebi-Shaltout syndrome" ], "gold_answer": "Abnormal location of ears", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00390", "question": "What is associated with Post-angioplasty coronary artery restenosis?", "seeds": [ "Post-angioplasty coronary artery restenosis" ], "gold_answer": "Atherosclerosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00391", "question": "What is associated with Broad distal phalanx of the 2nd toe?", "seeds": [ "Broad distal phalanx of the 2nd toe" ], "gold_answer": "Abnormality of the distal phalanx of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00392", "question": "What is associated with Glomerular crescent formation?", "seeds": [ "Glomerular crescent formation" ], "gold_answer": "Abnormal Bowman space morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00393", "question": "What phenotype is associated with Acquired angioedema?", "seeds": [ "Acquired angioedema" ], "gold_answer": "Angioedema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00394", "question": "What is associated with Frontal cortical atrophy?", "seeds": [ "Frontal cortical atrophy" ], "gold_answer": "Abnormal cerebral cortex morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00395", "question": "What is associated with ABeta amyloidosis, Dutch type?", "seeds": [ "ABeta amyloidosis, Dutch type" ], "gold_answer": "Intracranial calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00396", "question": "What phenotype is associated with Amyotrophy, hereditary neuralgic?", "seeds": [ "Amyotrophy, hereditary neuralgic" ], "gold_answer": "Cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00397", "question": "What is associated with Orofaciodigital syndrome type 4?", "seeds": [ "Orofaciodigital syndrome type 4" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00398", "question": "What is associated with Pilonidal abscess?", "seeds": [ "Pilonidal abscess" ], "gold_answer": "Abnormal immune system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00399", "question": "What phenotype is associated with Cardiomyopathy, dilated, 1V?", "seeds": [ "Cardiomyopathy, dilated, 1V" ], "gold_answer": "Atrial fibrillation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00400", "question": "What phenotype is associated with Hemoglobin-Variants for which the chain carrying the mutation isunknown or uncertain?", "seeds": [ "Hemoglobin-Variants for which the chain carrying the mutation isunknown or uncertain" ], "gold_answer": "Increased hemoglobin oxygen affinity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00401", "question": "What is associated with Recurrent infection of the gastrointestinal tract?", "seeds": [ "Recurrent infection of the gastrointestinal tract" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00402", "question": "What is associated with Intra-oral hyperpigmentation?", "seeds": [ "Intra-oral hyperpigmentation" ], "gold_answer": "Abnormal pigmentation of the oral mucosa", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00403", "question": "What is associated with Elevated circulating thrombopoietin concentration?", "seeds": [ "Elevated circulating thrombopoietin concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00404", "question": "What is associated with Increased CSF/serum albumin ratio?", "seeds": [ "Increased CSF/serum albumin ratio" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00405", "question": "What is associated with Agalactia?", "seeds": [ "Agalactia" ], "gold_answer": "Abnormality of the breast", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00406", "question": "What is associated with Anti-GD1b antibody positivity?", "seeds": [ "Anti-GD1b antibody positivity" ], "gold_answer": "Anti-ganglioside antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00407", "question": "What is associated with Increased urinary epithelial cell count?", "seeds": [ "Increased urinary epithelial cell count" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00408", "question": "What is associated with Small epiphysis of the middle phalanx of the 5th finger?", "seeds": [ "Small epiphysis of the middle phalanx of the 5th finger" ], "gold_answer": "Small epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00409", "question": "What is associated with Decreased CSF neopterin level?", "seeds": [ "Decreased CSF neopterin level" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00410", "question": "What is associated with Elevated maternal circulating alpha-fetoprotein concentration?", "seeds": [ "Elevated maternal circulating alpha-fetoprotein concentration" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00411", "question": "What is associated with Abnormal glucose-6-phosphate dehydrogenase level in leukocytes?", "seeds": [ "Abnormal glucose-6-phosphate dehydrogenase level in leukocytes" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00412", "question": "What is associated with Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant?", "seeds": [ "Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00413", "question": "What is associated with Early onset absence seizures?", "seeds": [ "Early onset absence seizures" ], "gold_answer": "Dialeptic seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00414", "question": "What is associated with Protruding coccyx?", "seeds": [ "Protruding coccyx" ], "gold_answer": "Abnormal coccyx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00415", "question": "What is associated with Nonimmune hydrops fetalis?", "seeds": [ "Nonimmune hydrops fetalis" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00416", "question": "What is associated with Increased complex N-glycan level?", "seeds": [ "Increased complex N-glycan level" ], "gold_answer": "Abnormal protein N-linked glycosylation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00417", "question": "What is associated with Progressive clavicular acroosteolysis?", "seeds": [ "Progressive clavicular acroosteolysis" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00418", "question": "What is associated with Hyperglycemia?", "seeds": [ "Hyperglycemia" ], "gold_answer": "Abnormal blood glucose concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00419", "question": "What is associated with Abnormal thoracic duct morphology?", "seeds": [ "Abnormal thoracic duct morphology" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00420", "question": "What is associated with Absent epiphyses of the proximal phalanges of the hand?", "seeds": [ "Absent epiphyses of the proximal phalanges of the hand" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00421", "question": "What is associated with Brachydactyly-syndactyly, Zhao type?", "seeds": [ "Brachydactyly-syndactyly, Zhao type" ], "gold_answer": "Abnormality of the middle phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00422", "question": "What is associated with Bullet-shaped thumb phalanx?", "seeds": [ "Bullet-shaped thumb phalanx" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00423", "question": "What is associated with Monoclonal elevation of IgG light chain?", "seeds": [ "Monoclonal elevation of IgG light chain" ], "gold_answer": "Abnormal circulating IgG concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00424", "question": "What is associated with Increased circulating interferon-gamma concentration?", "seeds": [ "Increased circulating interferon-gamma concentration" ], "gold_answer": "Abnormal circulating interferon-gamma concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00425", "question": "What is associated with Glomerular endothelial tubuloreticular inclusion?", "seeds": [ "Glomerular endothelial tubuloreticular inclusion" ], "gold_answer": "Abnormal glomerular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00426", "question": "What phenotype is associated with Amelogenesis imperfecta, type IA?", "seeds": [ "Amelogenesis imperfecta, type IA" ], "gold_answer": "Taurodontia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00427", "question": "What phenotype is associated with Immunodeficiency due to purine nucleoside phosphorylase deficiency?", "seeds": [ "Immunodeficiency due to purine nucleoside phosphorylase deficiency" ], "gold_answer": "Sinusitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00428", "question": "What is associated with Hyper-IgM syndrome type 3?", "seeds": [ "Hyper-IgM syndrome type 3" ], "gold_answer": "CD40", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00429", "question": "What is associated with Hypoplastic left atrium?", "seeds": [ "Hypoplastic left atrium" ], "gold_answer": "Abnormal left atrium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00430", "question": "What is associated with Fatigable weakness of swallowing muscles?", "seeds": [ "Fatigable weakness of swallowing muscles" ], "gold_answer": "Fatigable weakness of bulbar muscles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00431", "question": "What is associated with Facial palsy?", "seeds": [ "Facial palsy" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00432", "question": "What is associated with Biliary dyskinesia?", "seeds": [ "Biliary dyskinesia" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00433", "question": "What is associated with Cystic hamartoma of lung and kidney?", "seeds": [ "Cystic hamartoma of lung and kidney" ], "gold_answer": "Increased blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00434", "question": "What is associated with Increased circulating IgE concentration?", "seeds": [ "Increased circulating IgE concentration" ], "gold_answer": "Abnormal circulating IgE concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00435", "question": "What is associated with Asymmetrical gluteal crease?", "seeds": [ "Asymmetrical gluteal crease" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00436", "question": "What is associated with Dysgenesis of the hypothalamus?", "seeds": [ "Dysgenesis of the hypothalamus" ], "gold_answer": "Abnormal diencephalon morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00437", "question": "What is associated with Irregular epiphysis of the 1st metatarsal?", "seeds": [ "Irregular epiphysis of the 1st metatarsal" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00438", "question": "What is associated with Immune defect due to absence of thymus?", "seeds": [ "Immune defect due to absence of thymus" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00439", "question": "What is associated with Ingrown nail?", "seeds": [ "Ingrown nail" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00440", "question": "What is associated with Periorbital dermoid cyst?", "seeds": [ "Periorbital dermoid cyst" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00441", "question": "What is associated with Duplication of the middle phalanx of the 4th finger?", "seeds": [ "Duplication of the middle phalanx of the 4th finger" ], "gold_answer": "Abnormal 4th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00442", "question": "What phenotype is associated with Renal hypodysplasia/aplasia 2?", "seeds": [ "Renal hypodysplasia/aplasia 2" ], "gold_answer": "Potter facies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00443", "question": "What phenotype is associated with Aicardi-Goutieres syndrome 4?", "seeds": [ "Aicardi-Goutieres syndrome 4" ], "gold_answer": "Dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00444", "question": "What is associated with Rubeosis iridis?", "seeds": [ "Rubeosis iridis" ], "gold_answer": "Abnormal uvea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00445", "question": "What is associated with Alsahan-Harris syndrome?", "seeds": [ "Alsahan-Harris syndrome" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the skull", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00446", "question": "What is associated with Bardet-Biedl syndrome 20?", "seeds": [ "Bardet-Biedl syndrome 20" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00447", "question": "What is associated with Fg syndrome 2?", "seeds": [ "Fg syndrome 2" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00448", "question": "What phenotype is associated with Tuberous sclerosis complex?", "seeds": [ "Tuberous sclerosis complex" ], "gold_answer": "Shagreen patch", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00449", "question": "What phenotype is associated with Optic atrophy 16?", "seeds": [ "Optic atrophy 16" ], "gold_answer": "Dyschromatopsia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00450", "question": "What is associated with Caudal appendage?", "seeds": [ "Caudal appendage" ], "gold_answer": "Abnormal coccyx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00451", "question": "What phenotype is associated with Keratoderma, palmoplantar, punctate type IA?", "seeds": [ "Keratoderma, palmoplantar, punctate type IA" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00452", "question": "What is associated with Absent dorsal skin creases over affected joints?", "seeds": [ "Absent dorsal skin creases over affected joints" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00453", "question": "What is associated with Congenital posterior urethral valve?", "seeds": [ "Congenital posterior urethral valve" ], "gold_answer": "Urethral valve", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00454", "question": "What phenotype is associated with Deafness, neurosensory, autosomal recessive 2?", "seeds": [ "Deafness, neurosensory, autosomal recessive 2" ], "gold_answer": "Vertigo", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00455", "question": "What is associated with Ground glass opacity of humeral diaphysis?", "seeds": [ "Ground glass opacity of humeral diaphysis" ], "gold_answer": "Anomaly of the upper limb diaphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00456", "question": "What is associated with Episodic paroxysmal anxiety?", "seeds": [ "Episodic paroxysmal anxiety" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00457", "question": "What is associated with Unilateral sensorineural hearing impairment?", "seeds": [ "Unilateral sensorineural hearing impairment" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00458", "question": "What is associated with Thrombocytopenia 3?", "seeds": [ "Thrombocytopenia 3" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00459", "question": "What is associated with Absent facial hair?", "seeds": [ "Absent facial hair" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00460", "question": "What is associated with Irregular epiphyses of the metacarpals?", "seeds": [ "Irregular epiphyses of the metacarpals" ], "gold_answer": "Irregular epiphyses of the upper limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00461", "question": "What is associated with Cardiomyopathy, dilated, 1B?", "seeds": [ "Cardiomyopathy, dilated, 1B" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00462", "question": "What is associated with Benign neoplasm of the central nervous system?", "seeds": [ "Benign neoplasm of the central nervous system" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00463", "question": "What is associated with Biotinidase deficiency?", "seeds": [ "Biotinidase deficiency" ], "gold_answer": "Ketoacidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00464", "question": "What phenotype is associated with Microcephaly, short stature, and polymicrogyria with or without seizures?", "seeds": [ "Microcephaly, short stature, and polymicrogyria with or without seizures" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00465", "question": "What is associated with Cogan syndrome?", "seeds": [ "Cogan syndrome" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00466", "question": "What is associated with Hypertrichosis?", "seeds": [ "Hypertrichosis" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00467", "question": "What is associated with Microcephalic primordial dwarfism, Montreal type?", "seeds": [ "Microcephalic primordial dwarfism, Montreal type" ], "gold_answer": "Premature skin wrinkling", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00468", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 9?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 9" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00469", "question": "What is associated with Abnormal palmar dermal ridges?", "seeds": [ "Abnormal palmar dermal ridges" ], "gold_answer": "Abnormal dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00470", "question": "What is associated with IMINOGLYCINURIA?", "seeds": [ "IMINOGLYCINURIA" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00471", "question": "What is associated with Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome?", "seeds": [ "Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome" ], "gold_answer": "SMC1A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00472", "question": "What is associated with Hyperphalangy of the 2nd finger?", "seeds": [ "Hyperphalangy of the 2nd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00473", "question": "What is associated with Bullet-shaped 2nd toe phalanx?", "seeds": [ "Bullet-shaped 2nd toe phalanx" ], "gold_answer": "Abnormal second toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00474", "question": "What is associated with Jerky head movements?", "seeds": [ "Jerky head movements" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00475", "question": "What phenotype is associated with Spinocerebellar ataxia, autosomal recessive 20?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 20" ], "gold_answer": "Delayed ability to sit", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00476", "question": "What is associated with Aspergillosis?", "seeds": [ "Aspergillosis" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00477", "question": "What is associated with Abnormal vestibular saccule morphology?", "seeds": [ "Abnormal vestibular saccule morphology" ], "gold_answer": "Abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00478", "question": "What is associated with Triggered by excitement?", "seeds": [ "Triggered by excitement" ], "gold_answer": "Triggered by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00479", "question": "What is associated with Triangular epiphysis of the distal phalanx of the 3rd finger?", "seeds": [ "Triangular epiphysis of the distal phalanx of the 3rd finger" ], "gold_answer": "Triangular epiphyses of the distal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00480", "question": "What is associated with Pleuritic chest pain?", "seeds": [ "Pleuritic chest pain" ], "gold_answer": "Chest pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00481", "question": "What is associated with Increased circulating myristoleate level?", "seeds": [ "Increased circulating myristoleate level" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00482", "question": "What is associated with Increased hepatitis B virus antibody level?", "seeds": [ "Increased hepatitis B virus antibody level" ], "gold_answer": "Increased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00483", "question": "What is associated with Partial absence of cerebellar vermis?", "seeds": [ "Partial absence of cerebellar vermis" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00484", "question": "What is associated with Starch intolerance?", "seeds": [ "Starch intolerance" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00485", "question": "What is associated with Athetoid cerebral palsy?", "seeds": [ "Athetoid cerebral palsy" ], "gold_answer": "Cerebral palsy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00486", "question": "What is associated with Acute encephalopathy?", "seeds": [ "Acute encephalopathy" ], "gold_answer": "Encephalopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00487", "question": "What is associated with Ventricular septal defect 3?", "seeds": [ "Ventricular septal defect 3" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00488", "question": "What is associated with Glomerular synechial adhesion?", "seeds": [ "Glomerular synechial adhesion" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00489", "question": "What is associated with Parkinsonism with spasticity, X-linked?", "seeds": [ "Parkinsonism with spasticity, X-linked" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00490", "question": "What is associated with Paracentral scotoma?", "seeds": [ "Paracentral scotoma" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00491", "question": "What is associated with Multiple mitochondrial dysfunctions syndrome 4?", "seeds": [ "Multiple mitochondrial dysfunctions syndrome 4" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00492", "question": "What is associated with Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome?", "seeds": [ "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome" ], "gold_answer": "KIF14", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_00493", "question": "What is associated with Impaired ability to shift attention?", "seeds": [ "Impaired ability to shift attention" ], "gold_answer": "Impaired executive functioning", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00494", "question": "What is associated with Patchy sclerosis of the 1st metacarpal?", "seeds": [ "Patchy sclerosis of the 1st metacarpal" ], "gold_answer": "Sclerosis of the 1st metacarpal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00495", "question": "What phenotype is associated with Focal facial dermal dysplasia type I?", "seeds": [ "Focal facial dermal dysplasia type I" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00496", "question": "What is associated with Pulmonary artery atresia?", "seeds": [ "Pulmonary artery atresia" ], "gold_answer": "Abnormality of the pulmonary vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00497", "question": "What is associated with Laryngeal calcification?", "seeds": [ "Laryngeal calcification" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00498", "question": "What is associated with Cardiomyocyte mitochondrial proliferation?", "seeds": [ "Cardiomyocyte mitochondrial proliferation" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00499", "question": "What phenotype is associated with Seizures, cortical blindness, and microcephaly syndrome?", "seeds": [ "Seizures, cortical blindness, and microcephaly syndrome" ], "gold_answer": "Focal cortical dysplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00500", "question": "What is associated with Reduced epidermal collagen VII protein expression?", "seeds": [ "Reduced epidermal collagen VII protein expression" ], "gold_answer": "Abnormal epidermal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00501", "question": "What is associated with Dimple on nasal tip?", "seeds": [ "Dimple on nasal tip" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00502", "question": "What is associated with Anterior chamber cells grade 4+?", "seeds": [ "Anterior chamber cells grade 4+" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00503", "question": "What phenotype is associated with Adult acute respiratory distress syndrome?", "seeds": [ "Adult acute respiratory distress syndrome" ], "gold_answer": "Shock", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00504", "question": "What is associated with Neonatal inspiratory stridor?", "seeds": [ "Neonatal inspiratory stridor" ], "gold_answer": "Respiratory insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00505", "question": "What is associated with EEG with generalized slow activity grade 1?", "seeds": [ "EEG with generalized slow activity grade 1" ], "gold_answer": "EEG with generalized slow activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00506", "question": "What is associated with Immunodeficiency 53?", "seeds": [ "Immunodeficiency 53" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00507", "question": "What phenotype is associated with Folinic acid-responsive seizures?", "seeds": [ "Folinic acid-responsive seizures" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00508", "question": "What is associated with Right ventricular failure?", "seeds": [ "Right ventricular failure" ], "gold_answer": "Abnormal right ventricular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00509", "question": "What phenotype is associated with Peroxisome biogenesis disorder 4B?", "seeds": [ "Peroxisome biogenesis disorder 4B" ], "gold_answer": "Single transverse palmar crease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00510", "question": "What is associated with Pyuria?", "seeds": [ "Pyuria" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00511", "question": "What is associated with Microcephalic osteodysplastic primordial dwarfism type II?", "seeds": [ "Microcephalic osteodysplastic primordial dwarfism type II" ], "gold_answer": "Hypopigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00512", "question": "What is associated with Reduced neutrophil myeloperoxidase activity?", "seeds": [ "Reduced neutrophil myeloperoxidase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00513", "question": "What is associated with Abnormal liver enzyme activity or concentration?", "seeds": [ "Abnormal liver enzyme activity or concentration" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00514", "question": "What phenotype is associated with Crisponi syndrome?", "seeds": [ "Crisponi syndrome" ], "gold_answer": "High palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00515", "question": "What is associated with Developmental delay with sleep apnea?", "seeds": [ "Developmental delay with sleep apnea" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00516", "question": "What is associated with Pulsatile liver?", "seeds": [ "Pulsatile liver" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00517", "question": "What is associated with Abnormal posterior circulating artery morphology?", "seeds": [ "Abnormal posterior circulating artery morphology" ], "gold_answer": "Abnormal circle of Willis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00518", "question": "What is associated with Auriculocondylar syndrome 3?", "seeds": [ "Auriculocondylar syndrome 3" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00519", "question": "What is associated with Pulmonary cavity?", "seeds": [ "Pulmonary cavity" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00520", "question": "What is associated with Elevated imprint of the transverse sinuses?", "seeds": [ "Elevated imprint of the transverse sinuses" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00521", "question": "What is associated with Abnormal cervical spine morphology?", "seeds": [ "Abnormal cervical spine morphology" ], "gold_answer": "Abnormality of the cervical spine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00522", "question": "What phenotype is associated with Meester-Loeys syndrome?", "seeds": [ "Meester-Loeys syndrome" ], "gold_answer": "Poor wound healing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00523", "question": "What is associated with Elevated urinary pyrroline hydroxycarboxylic acid level?", "seeds": [ "Elevated urinary pyrroline hydroxycarboxylic acid level" ], "gold_answer": "Organic aciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00524", "question": "What is associated with Optic atrophy 8?", "seeds": [ "Optic atrophy 8" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00525", "question": "What is associated with Combined immunodeficiency due to CRAC channel dysfunction?", "seeds": [ "Combined immunodeficiency due to CRAC channel dysfunction" ], "gold_answer": "Anemia due to reduced life span of red cells", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00526", "question": "What is associated with Transient unilateral blurring of vision?", "seeds": [ "Transient unilateral blurring of vision" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00527", "question": "What is associated with Unossified vertebral bodies?", "seeds": [ "Unossified vertebral bodies" ], "gold_answer": "Abnormally ossified vertebrae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00528", "question": "What is associated with Enlarged epiphysis of the distal phalanx of the 4th finger?", "seeds": [ "Enlarged epiphysis of the distal phalanx of the 4th finger" ], "gold_answer": "Abnormal 4th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00529", "question": "What is associated with Rosenthal fibers?", "seeds": [ "Rosenthal fibers" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00530", "question": "What is associated with Spondylometaphyseal dysplasia, 'corner fracture' type?", "seeds": [ "Spondylometaphyseal dysplasia, 'corner fracture' type" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00531", "question": "What is associated with Fetal cystic hygroma?", "seeds": [ "Fetal cystic hygroma" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00532", "question": "What is associated with Fused labia minora?", "seeds": [ "Fused labia minora" ], "gold_answer": "Abnormal labia minora morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00533", "question": "What is associated with Bunionette deformity?", "seeds": [ "Bunionette deformity" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00534", "question": "What is associated with Gastrointestinal carcinoma?", "seeds": [ "Gastrointestinal carcinoma" ], "gold_answer": "Malignant gastrointestinal tract tumors", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00535", "question": "What is associated with Lateral venous anomaly?", "seeds": [ "Lateral venous anomaly" ], "gold_answer": "Prominent superficial veins", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00536", "question": "What is associated with Abnormal head movements?", "seeds": [ "Abnormal head movements" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00537", "question": "What is associated with Contractures-developmental delay-Pierre Robin syndrome?", "seeds": [ "Contractures-developmental delay-Pierre Robin syndrome" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00538", "question": "What phenotype is associated with Metaphyseal dysplasia without hypotrichosis?", "seeds": [ "Metaphyseal dysplasia without hypotrichosis" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00539", "question": "What is associated with Sclerosis of the proximal phalanx of the 3rd toe?", "seeds": [ "Sclerosis of the proximal phalanx of the 3rd toe" ], "gold_answer": "Sclerosis of proximal phalanx of toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00540", "question": "What phenotype is associated with Fibronectin glomerulopathy?", "seeds": [ "Fibronectin glomerulopathy" ], "gold_answer": "Mesangial abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00541", "question": "What phenotype is associated with Nystagmus, congenital motor, autosomal recessive?", "seeds": [ "Nystagmus, congenital motor, autosomal recessive" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00542", "question": "What phenotype is associated with Proximal 3rd toe symphalangism?", "seeds": [ "Proximal 3rd toe symphalangism" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00543", "question": "What is associated with Periportal emperipolesis?", "seeds": [ "Periportal emperipolesis" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00544", "question": "What is associated with Abnormal timing of dark-adapted dim flash electroretinogram?", "seeds": [ "Abnormal timing of dark-adapted dim flash electroretinogram" ], "gold_answer": "Abnormal dark-adapted dim flash electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00545", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 3?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 3" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00546", "question": "What is associated with Abnormal thalamic MRI signal intensity?", "seeds": [ "Abnormal thalamic MRI signal intensity" ], "gold_answer": "Abnormal diencephalon morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00547", "question": "What is associated with Primary erythromelalgia?", "seeds": [ "Primary erythromelalgia" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00548", "question": "What phenotype is associated with Split lower lip?", "seeds": [ "Split lower lip" ], "gold_answer": "Abnormal lower lip morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00549", "question": "What phenotype is associated with Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome?", "seeds": [ "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" ], "gold_answer": "Axial hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00550", "question": "What is associated with Blue cone monochromacy?", "seeds": [ "Blue cone monochromacy" ], "gold_answer": "Monochromacy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00551", "question": "What is associated with Autosomal dominant adult-onset proximal spinal muscular atrophy?", "seeds": [ "Autosomal dominant adult-onset proximal spinal muscular atrophy" ], "gold_answer": "Limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00552", "question": "What is associated with Fibrotic non-specific interstitial pneumonia?", "seeds": [ "Fibrotic non-specific interstitial pneumonia" ], "gold_answer": "Abnormal pulmonary interstitial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00553", "question": "What is associated with Limb-Mammary syndrome?", "seeds": [ "Limb-Mammary syndrome" ], "gold_answer": "Abnormal nasolacrimal system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00554", "question": "What is associated with Tendon pain?", "seeds": [ "Tendon pain" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00555", "question": "What is associated with 46,xx sex reversal 4?", "seeds": [ "46,xx sex reversal 4" ], "gold_answer": "Hypoplasia of penis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00556", "question": "What is associated with Neuromuscular disease and ocular or auditory anomalies with or without seizures?", "seeds": [ "Neuromuscular disease and ocular or auditory anomalies with or without seizures" ], "gold_answer": "Talipes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00557", "question": "What is associated with Positive CSF Tropheryma whipplei bacteria microscopy?", "seeds": [ "Positive CSF Tropheryma whipplei bacteria microscopy" ], "gold_answer": "Positive CSF infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00558", "question": "What is associated with Arcuate vein medial/intimal liquefactive necrosis?", "seeds": [ "Arcuate vein medial/intimal liquefactive necrosis" ], "gold_answer": "Abnormal arcuate vein intima/media morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00559", "question": "What is associated with DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH?", "seeds": [ "DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH" ], "gold_answer": "Abnormal palm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00560", "question": "What is associated with Non-progressive cerebellar ataxia with intellectual disability?", "seeds": [ "Non-progressive cerebellar ataxia with intellectual disability" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00561", "question": "What is associated with Anomalous origin of the left anterior descending artery from the pulmonary artery?", "seeds": [ "Anomalous origin of the left anterior descending artery from the pulmonary artery" ], "gold_answer": "Abnormal coronary artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00562", "question": "What phenotype is associated with Neurodevelopmental disorder with hypotonia and seizures?", "seeds": [ "Neurodevelopmental disorder with hypotonia and seizures" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00563", "question": "What phenotype is associated with Keratosis follicularis spinulosa decalvans?", "seeds": [ "Keratosis follicularis spinulosa decalvans" ], "gold_answer": "Sparse eyebrow", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00564", "question": "What is associated with Deafness, autosomal recessive 32, with or without immotile sperm?", "seeds": [ "Deafness, autosomal recessive 32, with or without immotile sperm" ], "gold_answer": "Reduced sperm motility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00565", "question": "What is associated with Pretragal ectopia?", "seeds": [ "Pretragal ectopia" ], "gold_answer": "Abnormal periauricular region morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00566", "question": "What is associated with Fish odor?", "seeds": [ "Fish odor" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00567", "question": "What is associated with Amyloid deposition by anatomical site?", "seeds": [ "Amyloid deposition by anatomical site" ], "gold_answer": "Amyloid deposition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00568", "question": "What is associated with Positive CSF herpes simplex virus nucleic acid test?", "seeds": [ "Positive CSF herpes simplex virus nucleic acid test" ], "gold_answer": "Positive CSF infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00569", "question": "What is associated with Apneic episodes in infancy?", "seeds": [ "Apneic episodes in infancy" ], "gold_answer": "Apnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00570", "question": "What is associated with Ankyloblepharon filiforme adnatum-cleft palate syndrome?", "seeds": [ "Ankyloblepharon filiforme adnatum-cleft palate syndrome" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00571", "question": "What is associated with Abnormal scleral thickness?", "seeds": [ "Abnormal scleral thickness" ], "gold_answer": "Abnormal sclera morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00572", "question": "What is associated with Thin ear helix?", "seeds": [ "Thin ear helix" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00573", "question": "What is associated with Large foramen magnum?", "seeds": [ "Large foramen magnum" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00574", "question": "What is associated with Polydactyly, postaxial, type A10?", "seeds": [ "Polydactyly, postaxial, type A10" ], "gold_answer": "IQCE", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00575", "question": "What is associated with Hypoplasia of right ventricle?", "seeds": [ "Hypoplasia of right ventricle" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00576", "question": "What is associated with Erythroderma, lethal congenital?", "seeds": [ "Erythroderma, lethal congenital" ], "gold_answer": "Abnormal circulating albumin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00577", "question": "What is associated with VACTERL association, X-linked?", "seeds": [ "VACTERL association, X-linked" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00578", "question": "What phenotype is associated with Recurrent respiratory papillomatosis?", "seeds": [ "Recurrent respiratory papillomatosis" ], "gold_answer": "Dysphagia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00579", "question": "What is associated with Bidirectional ventricular ectopy?", "seeds": [ "Bidirectional ventricular ectopy" ], "gold_answer": "Ventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00580", "question": "What is associated with Pituicytoma?", "seeds": [ "Pituicytoma" ], "gold_answer": "Abnormal circulating testosterone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00581", "question": "What is associated with Abnormal finger phalanx morphology?", "seeds": [ "Abnormal finger phalanx morphology" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00582", "question": "What phenotype is associated with Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency?", "seeds": [ "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" ], "gold_answer": "Broad metatarsal", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00583", "question": "What is associated with Vasculopathy, retinal, with cerebral leukodystrophy?", "seeds": [ "Vasculopathy, retinal, with cerebral leukodystrophy" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00584", "question": "What phenotype is associated with Fanconi anemia, complementation group J?", "seeds": [ "Fanconi anemia, complementation group J" ], "gold_answer": "Multiple cafe-au-lait spots", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00585", "question": "What phenotype is associated with Basal cell nevus syndrome?", "seeds": [ "Basal cell nevus syndrome" ], "gold_answer": "Hemivertebrae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00586", "question": "What is associated with Cutaneous necrosis?", "seeds": [ "Cutaneous necrosis" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00587", "question": "What is associated with Increased urine phenylacetylglutamine level?", "seeds": [ "Increased urine phenylacetylglutamine level" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00588", "question": "What is associated with Congenital nephrotic syndrome?", "seeds": [ "Congenital nephrotic syndrome" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00589", "question": "What is associated with Transitional atrioventricular canal defect?", "seeds": [ "Transitional atrioventricular canal defect" ], "gold_answer": "Atrioventricular canal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00590", "question": "What is associated with Pilonidal sinus?", "seeds": [ "Pilonidal sinus" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00591", "question": "What is associated with Abnormal pulmonary valve morphology?", "seeds": [ "Abnormal pulmonary valve morphology" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00592", "question": "What is associated with Foveal retinal pigment epithelial loss on macular OCT?", "seeds": [ "Foveal retinal pigment epithelial loss on macular OCT" ], "gold_answer": "Abnormal retinal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00593", "question": "What is associated with Short nasal bridge?", "seeds": [ "Short nasal bridge" ], "gold_answer": "Abnormal nasal bridge morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00594", "question": "What is associated with Myoclonic status epilepticus without coma?", "seeds": [ "Myoclonic status epilepticus without coma" ], "gold_answer": "Myoclonic status epilepticus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00595", "question": "What is associated with Benign chronic pemphigus?", "seeds": [ "Benign chronic pemphigus" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00596", "question": "What is associated with Long clavicles?", "seeds": [ "Long clavicles" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00597", "question": "What is associated with Short 3rd toe?", "seeds": [ "Short 3rd toe" ], "gold_answer": "Short toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00598", "question": "What is associated with Severe combined immunodeficiency, X-linked?", "seeds": [ "Severe combined immunodeficiency, X-linked" ], "gold_answer": "Immunodeficiency", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00599", "question": "What is associated with Chronic cutaneous wound?", "seeds": [ "Chronic cutaneous wound" ], "gold_answer": "Cutaneous wound", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00600", "question": "What is associated with Bullet-shaped distal phalanx of the 4th toe?", "seeds": [ "Bullet-shaped distal phalanx of the 4th toe" ], "gold_answer": "Bullet-shaped toe phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00601", "question": "What is associated with Hypoxanthine guanine phosphoribosyltransferase partial deficiency?", "seeds": [ "Hypoxanthine guanine phosphoribosyltransferase partial deficiency" ], "gold_answer": "Hematuria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00602", "question": "What is associated with Glomerular fibrin thrombus?", "seeds": [ "Glomerular fibrin thrombus" ], "gold_answer": "Abnormal glomerular capillary lumen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00603", "question": "What phenotype is associated with Homocystinuria due to methylene tetrahydrofolate reductase deficiency?", "seeds": [ "Homocystinuria due to methylene tetrahydrofolate reductase deficiency" ], "gold_answer": "Cystathioninemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00604", "question": "What is associated with H syndrome?", "seeds": [ "H syndrome" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00605", "question": "What is associated with Fetal valproate spectrum disorder?", "seeds": [ "Fetal valproate spectrum disorder" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00606", "question": "What is associated with Shoulder impingement?", "seeds": [ "Shoulder impingement" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00607", "question": "What is associated with Multiple mitochondrial DNA deletions?", "seeds": [ "Multiple mitochondrial DNA deletions" ], "gold_answer": "Muscle abnormality related to mitochondrial dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00608", "question": "What phenotype is associated with Muscular hypertonia, lethal?", "seeds": [ "Muscular hypertonia, lethal" ], "gold_answer": "Decreased fetal movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00609", "question": "What is associated with Thought echo?", "seeds": [ "Thought echo" ], "gold_answer": "Delusion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00610", "question": "What is associated with Auralcephalosyndactyly?", "seeds": [ "Auralcephalosyndactyly" ], "gold_answer": "Abnormal cranial suture/fontanelle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00611", "question": "What is associated with Alveolar echinococcosis?", "seeds": [ "Alveolar echinococcosis" ], "gold_answer": "Visceromegaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00612", "question": "What is associated with Abnormal morphology of musculature of pharynx?", "seeds": [ "Abnormal morphology of musculature of pharynx" ], "gold_answer": "Abnormality of the pharynx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00613", "question": "What is associated with Bilateral wrist flexion contracture?", "seeds": [ "Bilateral wrist flexion contracture" ], "gold_answer": "Wrist flexion contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00614", "question": "What is associated with Squamous cell carcinoma of the anal canal?", "seeds": [ "Squamous cell carcinoma of the anal canal" ], "gold_answer": "Neoplasm of the respiratory system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00615", "question": "What is associated with Interstitial lung disease due to ABCA3 deficiency?", "seeds": [ "Interstitial lung disease due to ABCA3 deficiency" ], "gold_answer": "ABCA3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_00616", "question": "What is associated with Prominent palmar flexion creases?", "seeds": [ "Prominent palmar flexion creases" ], "gold_answer": "Abnormality of the palmar creases", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00617", "question": "What is associated with Aplasia/Hypoplasia of the optic nerve?", "seeds": [ "Aplasia/Hypoplasia of the optic nerve" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00618", "question": "What is associated with Tibial bowing?", "seeds": [ "Tibial bowing" ], "gold_answer": "Bowing of the long bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00619", "question": "What is associated with Low plasma citrulline?", "seeds": [ "Low plasma citrulline" ], "gold_answer": "Abnormal circulating citrulline concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00620", "question": "What is associated with Enlargement of the ankles?", "seeds": [ "Enlargement of the ankles" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00621", "question": "What is associated with Anonychia with flexural pigmentation?", "seeds": [ "Anonychia with flexural pigmentation" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00622", "question": "What is associated with Punctate periventricular T2 hyperintense foci?", "seeds": [ "Punctate periventricular T2 hyperintense foci" ], "gold_answer": "Leukoencephalopathy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00623", "question": "What is associated with Optic disc coloboma?", "seeds": [ "Optic disc coloboma" ], "gold_answer": "Abnormal optic disc morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00624", "question": "What is associated with Coronary sinus atrial septal defect?", "seeds": [ "Coronary sinus atrial septal defect" ], "gold_answer": "Abnormal cardiac septum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00625", "question": "What is associated with Primary congenital glaucoma?", "seeds": [ "Primary congenital glaucoma" ], "gold_answer": "Developmental glaucoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00626", "question": "What is associated with Bird-like facies?", "seeds": [ "Bird-like facies" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00627", "question": "What is associated with Epilepsy with eyelid myoclonia?", "seeds": [ "Epilepsy with eyelid myoclonia" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00628", "question": "What phenotype is associated with X-linked intellectual disability, Stoll type?", "seeds": [ "X-linked intellectual disability, Stoll type" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00629", "question": "What is associated with Silver-Russell syndrome 4?", "seeds": [ "Silver-Russell syndrome 4" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00630", "question": "What is associated with Amyotrophy of the musculature of the pelvis?", "seeds": [ "Amyotrophy of the musculature of the pelvis" ], "gold_answer": "Aplasia/Hypoplasia of the musculature of the pelvis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00631", "question": "What is associated with Mesomelic limb shortening and bowing?", "seeds": [ "Mesomelic limb shortening and bowing" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00632", "question": "What is associated with Hypocalciuric hypercalcemia, familial, type I?", "seeds": [ "Hypocalciuric hypercalcemia, familial, type I" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00633", "question": "What phenotype is associated with Craniofrontonasal syndrome?", "seeds": [ "Craniofrontonasal syndrome" ], "gold_answer": "Agenesis of corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00634", "question": "What is associated with Retinitis pigmentosa 4?", "seeds": [ "Retinitis pigmentosa 4" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00635", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly" ], "gold_answer": "Megalencephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00636", "question": "What is associated with Single umbilical artery?", "seeds": [ "Single umbilical artery" ], "gold_answer": "Fetal ultrasound soft marker", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00637", "question": "What is associated with Elevated circulating tetracosanoic acid concentration?", "seeds": [ "Elevated circulating tetracosanoic acid concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00638", "question": "What is associated with Dent disease 2?", "seeds": [ "Dent disease 2" ], "gold_answer": "Abnormal abdominal wall morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00639", "question": "What is associated with EEG with intermittent slow activity?", "seeds": [ "EEG with intermittent slow activity" ], "gold_answer": "EEG with generalized slow activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00640", "question": "What is associated with Cardiomyopathy, dilated, 1BB?", "seeds": [ "Cardiomyopathy, dilated, 1BB" ], "gold_answer": "Heart block", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00641", "question": "What is associated with Niemann-Pick disease type C?", "seeds": [ "Niemann-Pick disease type C" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00642", "question": "What is associated with Nonexudative conjunctivitis?", "seeds": [ "Nonexudative conjunctivitis" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00643", "question": "What is associated with Impaired ocular adduction?", "seeds": [ "Impaired ocular adduction" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00644", "question": "What is associated with Metaphyseal chondromatosis of ulna?", "seeds": [ "Metaphyseal chondromatosis of ulna" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00645", "question": "What is associated with Autosomal dominant spastic paraplegia type 73?", "seeds": [ "Autosomal dominant spastic paraplegia type 73" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00646", "question": "What is associated with Glycogen storage disease Ia?", "seeds": [ "Glycogen storage disease Ia" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00647", "question": "What is associated with Toe clinodactyly?", "seeds": [ "Toe clinodactyly" ], "gold_answer": "Deviation of toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00648", "question": "What is associated with Partial fusion of proximal row of carpal bones?", "seeds": [ "Partial fusion of proximal row of carpal bones" ], "gold_answer": "Carpal synostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00649", "question": "What is associated with Complete right bundle branch block?", "seeds": [ "Complete right bundle branch block" ], "gold_answer": "Cardiac conduction abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00650", "question": "What is associated with Short 2nd toe?", "seeds": [ "Short 2nd toe" ], "gold_answer": "Short toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00651", "question": "What is associated with EEG with generalized polyspikes?", "seeds": [ "EEG with generalized polyspikes" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00652", "question": "What is associated with Broad hallux phalanx?", "seeds": [ "Broad hallux phalanx" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00653", "question": "What is associated with Weak pulse?", "seeds": [ "Weak pulse" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00654", "question": "What phenotype is associated with Amyotrophic lateral sclerosis, juvenile, with dementia?", "seeds": [ "Amyotrophic lateral sclerosis, juvenile, with dementia" ], "gold_answer": "Upper limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00655", "question": "What phenotype is associated with Retinitis pigmentosa 26?", "seeds": [ "Retinitis pigmentosa 26" ], "gold_answer": "Attenuation of retinal blood vessels", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00656", "question": "What is associated with Ichthyosis-prematurity syndrome?", "seeds": [ "Ichthyosis-prematurity syndrome" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00657", "question": "What is associated with Carbamazepine exposure?", "seeds": [ "Carbamazepine exposure" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00658", "question": "What is associated with Granuloma?", "seeds": [ "Granuloma" ], "gold_answer": "Abnormal immune system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00659", "question": "What is associated with Multiple unerupted teeth?", "seeds": [ "Multiple unerupted teeth" ], "gold_answer": "Eruption failure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00660", "question": "What is associated with Elevated urine hydroxyphenyllactic acid level?", "seeds": [ "Elevated urine hydroxyphenyllactic acid level" ], "gold_answer": "Increased urinary non-proteinogenic amino acid level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00661", "question": "What is associated with Two-raphe bicuspid aortic valve?", "seeds": [ "Two-raphe bicuspid aortic valve" ], "gold_answer": "Abnormal aortic valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00662", "question": "What is associated with Renal glucosuria?", "seeds": [ "Renal glucosuria" ], "gold_answer": "Abnormal consumption behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00663", "question": "What is associated with STXBP1-related encephalopathy?", "seeds": [ "STXBP1-related encephalopathy" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00664", "question": "What is associated with Abnormal germ cell morphology?", "seeds": [ "Abnormal germ cell morphology" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00665", "question": "What is associated with Typified by somatic mosaicism?", "seeds": [ "Typified by somatic mosaicism" ], "gold_answer": "Mode of inheritance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00666", "question": "What is associated with Beemer lethal malformation syndrome?", "seeds": [ "Beemer lethal malformation syndrome" ], "gold_answer": "Abnormal external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00667", "question": "What is associated with Radial nerve distribution?", "seeds": [ "Radial nerve distribution" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00668", "question": "What is associated with Autosomal recessive cutis laxa type 2B?", "seeds": [ "Autosomal recessive cutis laxa type 2B" ], "gold_answer": "PYCR1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_00669", "question": "What is associated with Diarrhea?", "seeds": [ "Diarrhea" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00670", "question": "What is associated with Elevated urinary succinylaminoimidazole carboxamide riboside level?", "seeds": [ "Elevated urinary succinylaminoimidazole carboxamide riboside level" ], "gold_answer": "Abnormal urinary purine level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00671", "question": "What is associated with Empty delta sign?", "seeds": [ "Empty delta sign" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00672", "question": "What is associated with Confusion?", "seeds": [ "Confusion" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00673", "question": "What is associated with Abnormal placental adhesion into the uterine wall?", "seeds": [ "Abnormal placental adhesion into the uterine wall" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00674", "question": "What is associated with Premature fusion of phalangeal epiphyses?", "seeds": [ "Premature fusion of phalangeal epiphyses" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00675", "question": "What is associated with Progressive conductive hearing impairment?", "seeds": [ "Progressive conductive hearing impairment" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00676", "question": "What is associated with Peripheral motor neuropathy, childhood-onset, biotin-responsive?", "seeds": [ "Peripheral motor neuropathy, childhood-onset, biotin-responsive" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00677", "question": "What is associated with Elevated circulating acetoacetic acid concentration?", "seeds": [ "Elevated circulating acetoacetic acid concentration" ], "gold_answer": "Hyperketonemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00678", "question": "What is associated with Aspergillosis?", "seeds": [ "Aspergillosis" ], "gold_answer": "Inflammatory abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00679", "question": "What is associated with Periosteal thickening of long tubular bones?", "seeds": [ "Periosteal thickening of long tubular bones" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00680", "question": "What is associated with Abnormal lymph-node cellular B-cell marker expression?", "seeds": [ "Abnormal lymph-node cellular B-cell marker expression" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00681", "question": "What is associated with Anti-GD1b IgG antibody positivity?", "seeds": [ "Anti-GD1b IgG antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00682", "question": "What is associated with Myoclonic absence status epilepticus?", "seeds": [ "Myoclonic absence status epilepticus" ], "gold_answer": "Status epilepticus without prominent motor symptoms", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00683", "question": "What is associated with Popliteal pterygium syndrome, Bartsocas-Papas type 2?", "seeds": [ "Popliteal pterygium syndrome, Bartsocas-Papas type 2" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00684", "question": "What is associated with Reduced muscle fiber perlecan?", "seeds": [ "Reduced muscle fiber perlecan" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00685", "question": "What is associated with Triggered by emotion?", "seeds": [ "Triggered by emotion" ], "gold_answer": "Triggered by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00686", "question": "What phenotype is associated with Intellectual disability-cataracts-calcified pinnae-myopathy syndrome?", "seeds": [ "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00687", "question": "What is associated with Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities?", "seeds": [ "Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00688", "question": "What is associated with Slow-growing hair?", "seeds": [ "Slow-growing hair" ], "gold_answer": "Abnormality of hair growth rate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00689", "question": "What is associated with Autoimmune lymphoproliferative syndrome, type V?", "seeds": [ "Autoimmune lymphoproliferative syndrome, type V" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00690", "question": "What is associated with Hematochezia?", "seeds": [ "Hematochezia" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00691", "question": "What phenotype is associated with Craniosynostosis and dental anomalies?", "seeds": [ "Craniosynostosis and dental anomalies" ], "gold_answer": "Sagittal craniosynostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00692", "question": "What phenotype is associated with Brachydactyly type B?", "seeds": [ "Brachydactyly type B" ], "gold_answer": "Symphalangism affecting the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00693", "question": "What is associated with Ivory epiphysis of the distal phalanx of the 4th finger?", "seeds": [ "Ivory epiphysis of the distal phalanx of the 4th finger" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00694", "question": "What is associated with Myasthenic syndrome, congenital, 24, presynaptic?", "seeds": [ "Myasthenic syndrome, congenital, 24, presynaptic" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00695", "question": "What phenotype is associated with Spastic paraplegia 56, autosomal recessive?", "seeds": [ "Spastic paraplegia 56, autosomal recessive" ], "gold_answer": "Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00696", "question": "What is associated with Aplasia/Hypoplasia of the distal phalanges of the hand?", "seeds": [ "Aplasia/Hypoplasia of the distal phalanges of the hand" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00697", "question": "What is associated with Complement component 4A deficiency?", "seeds": [ "Complement component 4A deficiency" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00698", "question": "What is associated with Focal aware cognitive seizure with receptive dysphasia/aphasia?", "seeds": [ "Focal aware cognitive seizure with receptive dysphasia/aphasia" ], "gold_answer": "Focal aware seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00699", "question": "What is associated with Reduced muscle phosphoglycerate mutase activity?", "seeds": [ "Reduced muscle phosphoglycerate mutase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00700", "question": "What is associated with Absence of the pulmonary artery?", "seeds": [ "Absence of the pulmonary artery" ], "gold_answer": "Abnormal heart sound", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00701", "question": "What is associated with Pulmonary lymphoma?", "seeds": [ "Pulmonary lymphoma" ], "gold_answer": "Neoplasm of the lung", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00702", "question": "What is associated with Abnormal aortic morphology?", "seeds": [ "Abnormal aortic morphology" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00703", "question": "What is associated with Cold-sensitive myotonia?", "seeds": [ "Cold-sensitive myotonia" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00704", "question": "What phenotype is associated with Coenzyme Q10 deficiency, primary, 9?", "seeds": [ "Coenzyme Q10 deficiency, primary, 9" ], "gold_answer": "Encephalopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00705", "question": "What is associated with Osteolytic defects of the middle phalanges of the toes?", "seeds": [ "Osteolytic defects of the middle phalanges of the toes" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00706", "question": "What is associated with Increased circulating IgG4 level?", "seeds": [ "Increased circulating IgG4 level" ], "gold_answer": "Increased circulating IgG subclass", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00707", "question": "What is associated with Sertoli cell hypoplasia?", "seeds": [ "Sertoli cell hypoplasia" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00708", "question": "What is associated with Gordon syndrome?", "seeds": [ "Gordon syndrome" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00709", "question": "What is associated with Increased CSF threonine concentration?", "seeds": [ "Increased CSF threonine concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00710", "question": "What is associated with Ventricular preexcitation?", "seeds": [ "Ventricular preexcitation" ], "gold_answer": "Ventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00711", "question": "What is associated with Classic glucose transporter type 1 deficiency syndrome?", "seeds": [ "Classic glucose transporter type 1 deficiency syndrome" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00712", "question": "What is associated with Cone-Rod dystrophy, X-linked, 3?", "seeds": [ "Cone-Rod dystrophy, X-linked, 3" ], "gold_answer": "Abnormal full-field electroretinogram", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00713", "question": "What is associated with Fractured metatarsal bone of digit 1?", "seeds": [ "Fractured metatarsal bone of digit 1" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00714", "question": "What is associated with Erythroderma?", "seeds": [ "Erythroderma" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00715", "question": "What is associated with Triangular shaped proximal phalanx of the 2nd finger?", "seeds": [ "Triangular shaped proximal phalanx of the 2nd finger" ], "gold_answer": "Abnormal 2nd finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00716", "question": "What is associated with Cortical nephrocalcinosis?", "seeds": [ "Cortical nephrocalcinosis" ], "gold_answer": "Nephrocalcinosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00717", "question": "What is associated with Abnormal B cell morphology?", "seeds": [ "Abnormal B cell morphology" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00718", "question": "What phenotype is associated with Aplasia cutis-enamel dysplasia syndrome?", "seeds": [ "Aplasia cutis-enamel dysplasia syndrome" ], "gold_answer": "Erythema", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00719", "question": "What phenotype is associated with Immunodeficiency, common variable, 7?", "seeds": [ "Immunodeficiency, common variable, 7" ], "gold_answer": "Decreased circulating IgA concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00720", "question": "What is associated with Localized hirsutism?", "seeds": [ "Localized hirsutism" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00721", "question": "What is associated with Tibial tubercle apophysitis?", "seeds": [ "Tibial tubercle apophysitis" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00722", "question": "What is associated with Achromatopsia 2?", "seeds": [ "Achromatopsia 2" ], "gold_answer": "PDE6C", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00723", "question": "What is associated with Maxillary lateral incisor microdontia?", "seeds": [ "Maxillary lateral incisor microdontia" ], "gold_answer": "Microdontia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00724", "question": "What is associated with Abnormal Esterman grid perimetry test?", "seeds": [ "Abnormal Esterman grid perimetry test" ], "gold_answer": "Abnormal static automated perimetry test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00725", "question": "What is associated with Familial adenomatous polyposis 4?", "seeds": [ "Familial adenomatous polyposis 4" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00726", "question": "What is associated with Comma-shaped carpal bones?", "seeds": [ "Comma-shaped carpal bones" ], "gold_answer": "Abnormally shaped carpal bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00727", "question": "What is associated with Aplasia/Hypoplasia of the biceps?", "seeds": [ "Aplasia/Hypoplasia of the biceps" ], "gold_answer": "Abnormality of the upper arm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00728", "question": "What is associated with Elevated circulating C-terminal fibroblast growth factor 23 concentration?", "seeds": [ "Elevated circulating C-terminal fibroblast growth factor 23 concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00729", "question": "What is associated with Abnormal hemoglobin?", "seeds": [ "Abnormal hemoglobin" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00730", "question": "What is associated with Dermal microfilaria?", "seeds": [ "Dermal microfilaria" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00731", "question": "What is associated with Anterior radial head dislocation?", "seeds": [ "Anterior radial head dislocation" ], "gold_answer": "Upper extremity joint dislocation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00732", "question": "What is associated with Topographical agnosia?", "seeds": [ "Topographical agnosia" ], "gold_answer": "Abnormal interpretation of external stimuli", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00733", "question": "What is associated with Epileptic encephalopathy, early infantile, 36?", "seeds": [ "Epileptic encephalopathy, early infantile, 36" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00734", "question": "What is associated with Oligoclonal elevation of circulating IgM?", "seeds": [ "Oligoclonal elevation of circulating IgM" ], "gold_answer": "Abnormal circulating IgM concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00735", "question": "What phenotype is associated with Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to?", "seeds": [ "Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to" ], "gold_answer": "Lethargy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00736", "question": "What is associated with Combined oxidative phosphorylation deficiency 51?", "seeds": [ "Combined oxidative phosphorylation deficiency 51" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00737", "question": "What phenotype is associated with Thyrotoxic periodic paralysis, susceptibility to, 1?", "seeds": [ "Thyrotoxic periodic paralysis, susceptibility to, 1" ], "gold_answer": "Rhabdomyolysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00738", "question": "What is associated with Midline facial cleft?", "seeds": [ "Midline facial cleft" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00739", "question": "What is associated with Polyarticular arthropathy?", "seeds": [ "Polyarticular arthropathy" ], "gold_answer": "Arthropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00740", "question": "What is associated with Nonepidermolytic palmoplantar hyperkeratosis?", "seeds": [ "Nonepidermolytic palmoplantar hyperkeratosis" ], "gold_answer": "Palmoplantar hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00741", "question": "What phenotype is associated with Chronic intestinal pseudoobstruction syndrome?", "seeds": [ "Chronic intestinal pseudoobstruction syndrome" ], "gold_answer": "Patent ductus arteriosus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00742", "question": "What phenotype is associated with Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A?", "seeds": [ "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A" ], "gold_answer": "Hyperammonemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00743", "question": "What is associated with Limited shoulder internal rotation?", "seeds": [ "Limited shoulder internal rotation" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00744", "question": "What is associated with Angiolipomatosis, familial?", "seeds": [ "Angiolipomatosis, familial" ], "gold_answer": "Lipomatous tumor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00745", "question": "What is associated with 46,XX difference of sex development-skeletal anomalies syndrome?", "seeds": [ "46,XX difference of sex development-skeletal anomalies syndrome" ], "gold_answer": "Abnormal size of the clitoris", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00746", "question": "What is associated with Internal notch of the femoral head?", "seeds": [ "Internal notch of the femoral head" ], "gold_answer": "Abnormal femoral head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00747", "question": "What is associated with Abnormal protein O-linked glycosylation?", "seeds": [ "Abnormal protein O-linked glycosylation" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00748", "question": "What phenotype is associated with Macrocephaly, dysmorphic facies, and psychomotor retardation?", "seeds": [ "Macrocephaly, dysmorphic facies, and psychomotor retardation" ], "gold_answer": "Low-set ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00749", "question": "What is associated with Abnormal tibia morphology?", "seeds": [ "Abnormal tibia morphology" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00750", "question": "What is associated with Patent ductus arteriosus after birth at term?", "seeds": [ "Patent ductus arteriosus after birth at term" ], "gold_answer": "Patent ductus arteriosus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00751", "question": "What is associated with Infantile spasms-broad thumbs syndrome?", "seeds": [ "Infantile spasms-broad thumbs syndrome" ], "gold_answer": "Abnormal corpus callosum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00752", "question": "What phenotype is associated with Zygomycosis?", "seeds": [ "Zygomycosis" ], "gold_answer": "Retinal detachment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00753", "question": "What is associated with Broad lateral eyebrow?", "seeds": [ "Broad lateral eyebrow" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00754", "question": "What is associated with Focal impaired awareness autonomic seizure with erection?", "seeds": [ "Focal impaired awareness autonomic seizure with erection" ], "gold_answer": "Focal impaired awareness autonomic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00755", "question": "What is associated with Laryngeal hemangioma?", "seeds": [ "Laryngeal hemangioma" ], "gold_answer": "Hemangioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00756", "question": "What phenotype is associated with Hatipoglu immunodeficiency syndrome?", "seeds": [ "Hatipoglu immunodeficiency syndrome" ], "gold_answer": "Autistic behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00757", "question": "What is associated with Triggered by EBV infection?", "seeds": [ "Triggered by EBV infection" ], "gold_answer": "Triggered by infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00758", "question": "What phenotype is associated with Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome?", "seeds": [ "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome" ], "gold_answer": "Talipes equinovarus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00759", "question": "What is associated with Intrauterine fetal demise of one twin after midgestation?", "seeds": [ "Intrauterine fetal demise of one twin after midgestation" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00760", "question": "What is associated with MODY?", "seeds": [ "MODY" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00761", "question": "What phenotype is associated with Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type?", "seeds": [ "Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00762", "question": "What is associated with Malaise?", "seeds": [ "Malaise" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00763", "question": "What is associated with Orofaciodigital syndrome type 14?", "seeds": [ "Orofaciodigital syndrome type 14" ], "gold_answer": "Neoplasm of the tongue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00764", "question": "What is associated with Ovarian cyst?", "seeds": [ "Ovarian cyst" ], "gold_answer": "Abnormality of the ovary", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00765", "question": "What phenotype is associated with Common arterial trunk?", "seeds": [ "Common arterial trunk" ], "gold_answer": "Broad forehead", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00766", "question": "What is associated with Anti-acetylcholine receptor antibody positivity?", "seeds": [ "Anti-acetylcholine receptor antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00767", "question": "What is associated with Abnormal base excess?", "seeds": [ "Abnormal base excess" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00768", "question": "What is associated with Abnormal humeral metaphysis morphology?", "seeds": [ "Abnormal humeral metaphysis morphology" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00769", "question": "What is associated with Holoprosencephaly 1?", "seeds": [ "Holoprosencephaly 1" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00770", "question": "What is associated with Recurrent meningococcal disease?", "seeds": [ "Recurrent meningococcal disease" ], "gold_answer": "Recurrent gram-negative bacterial infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00771", "question": "What is associated with Abnormal liver parenchyma morphology?", "seeds": [ "Abnormal liver parenchyma morphology" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00772", "question": "What is associated with Shallow anterior chamber?", "seeds": [ "Shallow anterior chamber" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00773", "question": "What is associated with Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome?", "seeds": [ "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome" ], "gold_answer": "Abdominal wall defect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00774", "question": "What is associated with Enlarged interphalangeal joints?", "seeds": [ "Enlarged interphalangeal joints" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00775", "question": "What is associated with Abnormal jaw morphology?", "seeds": [ "Abnormal jaw morphology" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00776", "question": "What is associated with Late onset?", "seeds": [ "Late onset" ], "gold_answer": "Onset", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00777", "question": "What is associated with Clinodactyly of the 2nd finger?", "seeds": [ "Clinodactyly of the 2nd finger" ], "gold_answer": "Deviation of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00778", "question": "What phenotype is associated with Autosomal recessive cutis laxa type 2, classic type?", "seeds": [ "Autosomal recessive cutis laxa type 2, classic type" ], "gold_answer": "Dementia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00779", "question": "What is associated with Erythrocytosis, familial, 8?", "seeds": [ "Erythrocytosis, familial, 8" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00780", "question": "What is associated with Decreased circulating IgG3 concentration?", "seeds": [ "Decreased circulating IgG3 concentration" ], "gold_answer": "Abnormal circulating IgG concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00781", "question": "What is associated with Colorectal cancer, hereditary nonpolyposis, type 2?", "seeds": [ "Colorectal cancer, hereditary nonpolyposis, type 2" ], "gold_answer": "Neoplasm of the large intestine", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00782", "question": "What is associated with Stippling of the epiphysis of the distal phalanx of the 2nd toe?", "seeds": [ "Stippling of the epiphysis of the distal phalanx of the 2nd toe" ], "gold_answer": "Epiphyseal stippling of toe phalanges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00783", "question": "What is associated with Renal dysplasia, cystic, susceptibility to?", "seeds": [ "Renal dysplasia, cystic, susceptibility to" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00784", "question": "What is associated with Palpable thrill on extremity?", "seeds": [ "Palpable thrill on extremity" ], "gold_answer": "Abnormal arterial physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00785", "question": "What is associated with Pigmented paravenous retinochoroidal atrophy?", "seeds": [ "Pigmented paravenous retinochoroidal atrophy" ], "gold_answer": "CRB1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00786", "question": "What is associated with Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive?", "seeds": [ "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" ], "gold_answer": "Abnormal nonverbal communicative behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00787", "question": "What is associated with Congenital malformation of the great arteries?", "seeds": [ "Congenital malformation of the great arteries" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00788", "question": "What is associated with Reduced tissue UDP-glucuronyl-transferase activity?", "seeds": [ "Reduced tissue UDP-glucuronyl-transferase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00789", "question": "What phenotype is associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome?", "seeds": [ "Megacystis-microcolon-intestinal hypoperistalsis syndrome" ], "gold_answer": "Elevated maternal circulating alpha-fetoprotein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00790", "question": "What phenotype is associated with Immunodeficiency 23?", "seeds": [ "Immunodeficiency 23" ], "gold_answer": "Immunodeficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00791", "question": "What phenotype is associated with Acyl-Coa dehydrogenase, medium-chain, deficiency of?", "seeds": [ "Acyl-Coa dehydrogenase, medium-chain, deficiency of" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00792", "question": "What is associated with Enlarged epiphysis of the distal phalanx of the 3rd finger?", "seeds": [ "Enlarged epiphysis of the distal phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the epiphyses of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00793", "question": "What is associated with Duplication of distal phalanx of toe?", "seeds": [ "Duplication of distal phalanx of toe" ], "gold_answer": "Abnormal distal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00794", "question": "What is associated with Chondritis?", "seeds": [ "Chondritis" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00795", "question": "What is associated with Very long-chain acyl-CoA dehydrogenase deficiency?", "seeds": [ "Very long-chain acyl-CoA dehydrogenase deficiency" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00796", "question": "What is associated with Palmoplantar keratoderma-deafness syndrome?", "seeds": [ "Palmoplantar keratoderma-deafness syndrome" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00797", "question": "What is associated with Abnormality of molar?", "seeds": [ "Abnormality of molar" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00798", "question": "What phenotype is associated with Vertebral hypoplasia with lumbar kyphosis?", "seeds": [ "Vertebral hypoplasia with lumbar kyphosis" ], "gold_answer": "Lumbar kyphosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00799", "question": "What is associated with Mitochondrial myopathy with lactic acidosis?", "seeds": [ "Mitochondrial myopathy with lactic acidosis" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00800", "question": "What is associated with Cor pulmonale?", "seeds": [ "Cor pulmonale" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00801", "question": "What phenotype is associated with Menke-Hennekam syndrome 2?", "seeds": [ "Menke-Hennekam syndrome 2" ], "gold_answer": "Full cheeks", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00802", "question": "What phenotype is associated with Free sialic acid storage disease?", "seeds": [ "Free sialic acid storage disease" ], "gold_answer": "Hydrops fetalis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00803", "question": "What is associated with Intellectual developmental disorder, X-linked 53?", "seeds": [ "Intellectual developmental disorder, X-linked 53" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00804", "question": "What is associated with Mucin casts?", "seeds": [ "Mucin casts" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00805", "question": "What is associated with Abnormal cochlea morphology?", "seeds": [ "Abnormal cochlea morphology" ], "gold_answer": "Abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00806", "question": "What is associated with Increased pituitary glycoprotein hormone alpha subunit level?", "seeds": [ "Increased pituitary glycoprotein hormone alpha subunit level" ], "gold_answer": "Abnormal pituitary glycoprotein hormone alpha subunit level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00807", "question": "What is associated with Abnormal vomer morphology?", "seeds": [ "Abnormal vomer morphology" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00808", "question": "What is associated with Ganglioglioma?", "seeds": [ "Ganglioglioma" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00809", "question": "What is associated with Sclerosis of the middle phalanx of the 3rd toe?", "seeds": [ "Sclerosis of the middle phalanx of the 3rd toe" ], "gold_answer": "Sclerosis of foot bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00810", "question": "What phenotype is associated with Appendicitis, proneness to?", "seeds": [ "Appendicitis, proneness to" ], "gold_answer": "Abnormal large intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00811", "question": "What is associated with Hypoplasia of the fovea?", "seeds": [ "Hypoplasia of the fovea" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00812", "question": "What is associated with Optically empty vitreous?", "seeds": [ "Optically empty vitreous" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00813", "question": "What is associated with Intermediate collagen VI-related muscular dystrophy?", "seeds": [ "Intermediate collagen VI-related muscular dystrophy" ], "gold_answer": "COL6A2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00814", "question": "What is associated with Rib spur?", "seeds": [ "Rib spur" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00815", "question": "What is associated with Aberrant melanosome maturation?", "seeds": [ "Aberrant melanosome maturation" ], "gold_answer": "Abnormality of dermal melanosomes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00816", "question": "What is associated with Tongue telangiectasia?", "seeds": [ "Tongue telangiectasia" ], "gold_answer": "Abnormality of the tongue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00817", "question": "What is associated with Fatigable weakness of skeletal muscles?", "seeds": [ "Fatigable weakness of skeletal muscles" ], "gold_answer": "Fatigable weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00818", "question": "What is associated with Reversible airflow obstruction?", "seeds": [ "Reversible airflow obstruction" ], "gold_answer": "Airway obstruction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00819", "question": "What is associated with Swiss cheese atrial septal defect?", "seeds": [ "Swiss cheese atrial septal defect" ], "gold_answer": "Atrial septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00820", "question": "What is associated with History of gastric bypass surgery?", "seeds": [ "History of gastric bypass surgery" ], "gold_answer": "Past surgical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00821", "question": "What is associated with Onset?", "seeds": [ "Onset" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00822", "question": "What is associated with Fluctuating?", "seeds": [ "Fluctuating" ], "gold_answer": "Clinical course", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00823", "question": "What is associated with Anterior chamber inflammatory cells?", "seeds": [ "Anterior chamber inflammatory cells" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00824", "question": "What is associated with Pustular rash?", "seeds": [ "Pustular rash" ], "gold_answer": "Skin rash", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00825", "question": "What phenotype is associated with X small rings syndrome?", "seeds": [ "X small rings syndrome" ], "gold_answer": "Nyctalopia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00826", "question": "What phenotype is associated with 19q13.11 microdeletion syndrome?", "seeds": [ "19q13.11 microdeletion syndrome" ], "gold_answer": "Failure to thrive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00827", "question": "What is associated with Typified by age-related disease onset?", "seeds": [ "Typified by age-related disease onset" ], "gold_answer": "Mode of inheritance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00828", "question": "What is associated with Abnormal atrial septum morphology?", "seeds": [ "Abnormal atrial septum morphology" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00829", "question": "What is associated with Hypoplastic toenails?", "seeds": [ "Hypoplastic toenails" ], "gold_answer": "Abnormal toenail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00830", "question": "What is associated with Cole-Carpenter syndrome?", "seeds": [ "Cole-Carpenter syndrome" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00831", "question": "What is associated with Gonadal hypoplasia?", "seeds": [ "Gonadal hypoplasia" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00832", "question": "What is associated with 6-mercaptopurine exposure?", "seeds": [ "6-mercaptopurine exposure" ], "gold_answer": "Medication history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00833", "question": "What phenotype is associated with PANDAS?", "seeds": [ "PANDAS" ], "gold_answer": "Impulsivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00834", "question": "What is associated with Positive bloodstream parainfluenza virus nucleic acid test?", "seeds": [ "Positive bloodstream parainfluenza virus nucleic acid test" ], "gold_answer": "Positive bloodstream nucleic acid pathogen test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00835", "question": "What is associated with Recurrent viral infections?", "seeds": [ "Recurrent viral infections" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00836", "question": "What is associated with Episodic pain syndrome, familial, 2?", "seeds": [ "Episodic pain syndrome, familial, 2" ], "gold_answer": "Abnormality of pain sensation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00837", "question": "What is associated with Botulism?", "seeds": [ "Botulism" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00838", "question": "What is associated with Elevated fecal sodium?", "seeds": [ "Elevated fecal sodium" ], "gold_answer": "Abnormal digestive system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00839", "question": "What is associated with Macular pseudocoloboma?", "seeds": [ "Macular pseudocoloboma" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00840", "question": "What is associated with Dermatan sulfate excretion in urine?", "seeds": [ "Dermatan sulfate excretion in urine" ], "gold_answer": "Mucopolysacchariduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00841", "question": "What phenotype is associated with Ankyloglossia with or without tooth anomalies?", "seeds": [ "Ankyloglossia with or without tooth anomalies" ], "gold_answer": "Ankyloglossia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00842", "question": "What is associated with Multiple epiphyseal dysplasia, Lowry type?", "seeds": [ "Multiple epiphyseal dysplasia, Lowry type" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00843", "question": "What is associated with Bleeding disorder in hemophilia A carriers?", "seeds": [ "Bleeding disorder in hemophilia A carriers" ], "gold_answer": "Abnormal female reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00844", "question": "What phenotype is associated with Multiple self-healing squamous epithelioma, susceptibility to?", "seeds": [ "Multiple self-healing squamous epithelioma, susceptibility to" ], "gold_answer": "Self-healing squamous epithelioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00845", "question": "What is associated with Blue cone monochromatism?", "seeds": [ "Blue cone monochromatism" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00846", "question": "What is associated with Retroperitoneal paraganglioma?", "seeds": [ "Retroperitoneal paraganglioma" ], "gold_answer": "Neoplasm of the endocrine system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00847", "question": "What is associated with Distal 2nd toe symphalangism?", "seeds": [ "Distal 2nd toe symphalangism" ], "gold_answer": "Toe phalanx synostosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00848", "question": "What is associated with Hyperoxemia?", "seeds": [ "Hyperoxemia" ], "gold_answer": "Abnormal blood oxygen level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00849", "question": "What is associated with Chronic active Epstein-Barr virus infection?", "seeds": [ "Chronic active Epstein-Barr virus infection" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00850", "question": "What is associated with Bardet-Biedl syndrome 7?", "seeds": [ "Bardet-Biedl syndrome 7" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00851", "question": "What is associated with Bracket epiphysis of the middle phalanx of the 3rd finger?", "seeds": [ "Bracket epiphysis of the middle phalanx of the 3rd finger" ], "gold_answer": "Abnormal 3rd finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00852", "question": "What is associated with Abnormal circulating alanine concentration?", "seeds": [ "Abnormal circulating alanine concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid derivative concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00853", "question": "What is associated with Iliac artery aneurysm?", "seeds": [ "Iliac artery aneurysm" ], "gold_answer": "Abnormal iliac artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00854", "question": "What is associated with Cylindromatosis, familial?", "seeds": [ "Cylindromatosis, familial" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00855", "question": "What is associated with Clinical anophthalmos?", "seeds": [ "Clinical anophthalmos" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00856", "question": "What is associated with Indifference to pain, congenital, autosomal recessive?", "seeds": [ "Indifference to pain, congenital, autosomal recessive" ], "gold_answer": "Increased susceptibility to fractures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00857", "question": "What is associated with Focal aware seizure?", "seeds": [ "Focal aware seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00858", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2EE?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2EE" ], "gold_answer": "EMG: neuropathic changes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00859", "question": "What is associated with Alzheimer disease 2?", "seeds": [ "Alzheimer disease 2" ], "gold_answer": "Cerebral inclusion bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00860", "question": "What is associated with Retinitis pigmentosa 24?", "seeds": [ "Retinitis pigmentosa 24" ], "gold_answer": "Retinal dystrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00861", "question": "What is associated with Papillomatosis, familial cutaneous?", "seeds": [ "Papillomatosis, familial cutaneous" ], "gold_answer": "Epidermal thickening", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00862", "question": "What is associated with Autism spectrum disorder due to AUTS2 deficiency?", "seeds": [ "Autism spectrum disorder due to AUTS2 deficiency" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00863", "question": "What is associated with Difficulty descending stairs?", "seeds": [ "Difficulty descending stairs" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00864", "question": "What is associated with Abnormal 4th finger phalanx morphology?", "seeds": [ "Abnormal 4th finger phalanx morphology" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00865", "question": "What is associated with Choroidal dystrophy, central areolar 2?", "seeds": [ "Choroidal dystrophy, central areolar 2" ], "gold_answer": "Abnormal chorioretinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00866", "question": "What is associated with Reduced brain lactate level by MRS?", "seeds": [ "Reduced brain lactate level by MRS" ], "gold_answer": "Abnormal metabolic brain imaging by MRS", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00867", "question": "What is associated with Generalized aminoaciduria?", "seeds": [ "Generalized aminoaciduria" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00868", "question": "What phenotype is associated with Gaucher disease type 3?", "seeds": [ "Gaucher disease type 3" ], "gold_answer": "Anodontia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00869", "question": "What is associated with Brain fog?", "seeds": [ "Brain fog" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00870", "question": "What is associated with Anterior cortical cataract?", "seeds": [ "Anterior cortical cataract" ], "gold_answer": "Zonular cataract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00871", "question": "What is associated with Abnormality of pattern onset/offset visual evoked potentials?", "seeds": [ "Abnormality of pattern onset/offset visual evoked potentials" ], "gold_answer": "Abnormality of pattern visual evoked potentials", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00872", "question": "What phenotype is associated with Holoprosencephaly 12 with or without pancreatic agenesis?", "seeds": [ "Holoprosencephaly 12 with or without pancreatic agenesis" ], "gold_answer": "Hitchhiker thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00873", "question": "What is associated with Pemphigus vulgaris, familial?", "seeds": [ "Pemphigus vulgaris, familial" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00874", "question": "What is associated with Arteriosclerosis?", "seeds": [ "Arteriosclerosis" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00875", "question": "What is associated with Astereognosis?", "seeds": [ "Astereognosis" ], "gold_answer": "Tactile agnosia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00876", "question": "What phenotype is associated with Immunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein?", "seeds": [ "Immunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein" ], "gold_answer": "Recurrent viral infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00877", "question": "What is associated with Coronary artery spasm?", "seeds": [ "Coronary artery spasm" ], "gold_answer": "Abnormal arterial physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00878", "question": "What is associated with Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts?", "seeds": [ "Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00879", "question": "What is associated with Anti-GW182 antibody positivity?", "seeds": [ "Anti-GW182 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00880", "question": "What is associated with Diaphragmatic weakness?", "seeds": [ "Diaphragmatic weakness" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00881", "question": "What is associated with Lymphoproliferative syndrome 3?", "seeds": [ "Lymphoproliferative syndrome 3" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00882", "question": "What is associated with Medial humerus epicondyle avulsion fracture?", "seeds": [ "Medial humerus epicondyle avulsion fracture" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00883", "question": "What phenotype is associated with Immunodeficiency-110 with lymphoproliferation?", "seeds": [ "Immunodeficiency-110 with lymphoproliferation" ], "gold_answer": "Immunodeficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00884", "question": "What is associated with Peripheral amyelination?", "seeds": [ "Peripheral amyelination" ], "gold_answer": "Abnormal peripheral nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00885", "question": "What is associated with Holster sign?", "seeds": [ "Holster sign" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00886", "question": "What is associated with Juvenile gastrointestinal polyposis?", "seeds": [ "Juvenile gastrointestinal polyposis" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00887", "question": "What is associated with Myelodysplastic neoplasm with increased blasts?", "seeds": [ "Myelodysplastic neoplasm with increased blasts" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00888", "question": "What is associated with Common carotid artery aneurysm?", "seeds": [ "Common carotid artery aneurysm" ], "gold_answer": "Abnormal carotid artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00889", "question": "What is associated with Proprioceptive-induced seizure?", "seeds": [ "Proprioceptive-induced seizure" ], "gold_answer": "Reflex seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00890", "question": "What is associated with Aplasia of posterior communicating artery?", "seeds": [ "Aplasia of posterior communicating artery" ], "gold_answer": "Abnormal cerebral artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00891", "question": "What phenotype is associated with Microcephaly-brachydactyly-kyphoscoliosis syndrome?", "seeds": [ "Microcephaly-brachydactyly-kyphoscoliosis syndrome" ], "gold_answer": "Low-set ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00892", "question": "What phenotype is associated with Candidiasis, familial, 8?", "seeds": [ "Candidiasis, familial, 8" ], "gold_answer": "Chronic oral candidiasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00893", "question": "What is associated with Dermatitis, atopic, susceptibility to, 2?", "seeds": [ "Dermatitis, atopic, susceptibility to, 2" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00894", "question": "What is associated with Fractured bone of jaw?", "seeds": [ "Fractured bone of jaw" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00895", "question": "What is associated with Pain insensitivity?", "seeds": [ "Pain insensitivity" ], "gold_answer": "Abnormal exteroceptive sensation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00896", "question": "What is associated with Hypercoagulability?", "seeds": [ "Hypercoagulability" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00897", "question": "What is associated with Congenital disorder of glycosylation, type It?", "seeds": [ "Congenital disorder of glycosylation, type It" ], "gold_answer": "KDR", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_00898", "question": "What is associated with B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality?", "seeds": [ "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality" ], "gold_answer": "FOXP1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_00899", "question": "What is associated with Reduced insulin like growth factor binding protein acid labile subunit concentration?", "seeds": [ "Reduced insulin like growth factor binding protein acid labile subunit concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00900", "question": "What phenotype is associated with Rhabdomyolysis, susceptibility to, 2?", "seeds": [ "Rhabdomyolysis, susceptibility to, 2" ], "gold_answer": "Muscle hypertrophy of the lower extremities", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00901", "question": "What phenotype is associated with Congenital disorder of glycosylation with defective fucosylation 2?", "seeds": [ "Congenital disorder of glycosylation with defective fucosylation 2" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00902", "question": "What phenotype is associated with Spondylometaphyseal dysplasia, Kozlowski type?", "seeds": [ "Spondylometaphyseal dysplasia, Kozlowski type" ], "gold_answer": "Genu varum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00903", "question": "What phenotype is associated with Achondrogenesis, type IB?", "seeds": [ "Achondrogenesis, type IB" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00904", "question": "What is associated with Abnormal pupil shape?", "seeds": [ "Abnormal pupil shape" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00905", "question": "What is associated with Malignant atrophic papulosis?", "seeds": [ "Malignant atrophic papulosis" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00906", "question": "What is associated with Pseudoaneurysm?", "seeds": [ "Pseudoaneurysm" ], "gold_answer": "Vascular dilatation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00907", "question": "What is associated with Capillary fragility?", "seeds": [ "Capillary fragility" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00908", "question": "What is associated with Arthrogryposis, distal, type 5D?", "seeds": [ "Arthrogryposis, distal, type 5D" ], "gold_answer": "Abnormality of mouth size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00909", "question": "What is associated with Cerebellar atrophy, developmental delay, and seizures?", "seeds": [ "Cerebellar atrophy, developmental delay, and seizures" ], "gold_answer": "Abnormal nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00910", "question": "What phenotype is associated with Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia?", "seeds": [ "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia" ], "gold_answer": "Upper limb undergrowth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00911", "question": "What is associated with Elevated intracellular cystine?", "seeds": [ "Elevated intracellular cystine" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00912", "question": "What is associated with Decreased Th17 T cell proportion?", "seeds": [ "Decreased Th17 T cell proportion" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00913", "question": "What is associated with Intraluminal meconium calcification?", "seeds": [ "Intraluminal meconium calcification" ], "gold_answer": "Abnormal fetal gastrointestinal system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00914", "question": "What is associated with Hypoplastic ischiopubic ramus?", "seeds": [ "Hypoplastic ischiopubic ramus" ], "gold_answer": "Aplasia/Hypoplasia involving the pelvis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00915", "question": "What is associated with Shukla-Vernon syndrome?", "seeds": [ "Shukla-Vernon syndrome" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00916", "question": "What is associated with Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome?", "seeds": [ "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome" ], "gold_answer": "CYP51A1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00917", "question": "What is associated with Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation?", "seeds": [ "Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation" ], "gold_answer": "Abnormality of the hairline", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00918", "question": "What is associated with Tibial deviation of toes?", "seeds": [ "Tibial deviation of toes" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00919", "question": "What is associated with Delayed elbow epiphyseal ossification?", "seeds": [ "Delayed elbow epiphyseal ossification" ], "gold_answer": "Delayed epiphyseal ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00920", "question": "What is associated with Overfolding of the superior helices?", "seeds": [ "Overfolding of the superior helices" ], "gold_answer": "Abnormal helix morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00921", "question": "What is associated with Retrognathia?", "seeds": [ "Retrognathia" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00922", "question": "What is associated with Intervertebral space narrowing?", "seeds": [ "Intervertebral space narrowing" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00923", "question": "What is associated with Anti-laminin gamma1 antibody positivity?", "seeds": [ "Anti-laminin gamma1 antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00924", "question": "What is associated with Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency?", "seeds": [ "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" ], "gold_answer": "Abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00925", "question": "What is associated with Decreased circulating iron concentration?", "seeds": [ "Decreased circulating iron concentration" ], "gold_answer": "Abnormal circulating iron concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00926", "question": "What is associated with Purely bicuspid aortic valve?", "seeds": [ "Purely bicuspid aortic valve" ], "gold_answer": "Abnormal aortic valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00927", "question": "What is associated with Pseudoepiphyses of the phalanges of the hand?", "seeds": [ "Pseudoepiphyses of the phalanges of the hand" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00928", "question": "What is associated with Pigment gallstones?", "seeds": [ "Pigment gallstones" ], "gold_answer": "Abnormal gallbladder morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00929", "question": "What is associated with Elevated circulating erythropoietin concentration?", "seeds": [ "Elevated circulating erythropoietin concentration" ], "gold_answer": "Abnormal circulating erythropoietin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00930", "question": "What phenotype is associated with 12q14 microdeletion syndrome?", "seeds": [ "12q14 microdeletion syndrome" ], "gold_answer": "Clinodactyly of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00931", "question": "What is associated with Absent germinal center tingible body macrophages?", "seeds": [ "Absent germinal center tingible body macrophages" ], "gold_answer": "Abnormal lymph-node germinal center morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00932", "question": "What is associated with Thinning and bulging of the posterior fossa bones?", "seeds": [ "Thinning and bulging of the posterior fossa bones" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00933", "question": "What is associated with Chronic granulomatous disease 2, autosomal recessive?", "seeds": [ "Chronic granulomatous disease 2, autosomal recessive" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00934", "question": "What phenotype is associated with Metachromatic leukodystrophy, juvenile form?", "seeds": [ "Metachromatic leukodystrophy, juvenile form" ], "gold_answer": "Vegetative state", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00935", "question": "What is associated with EEG with constitutional variants?", "seeds": [ "EEG with constitutional variants" ], "gold_answer": "Abnormal nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00936", "question": "What is associated with Wide penis?", "seeds": [ "Wide penis" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00937", "question": "What is associated with Dihydropteridine reductase deficiency?", "seeds": [ "Dihydropteridine reductase deficiency" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00938", "question": "What is associated with Moderate oligozoospermia?", "seeds": [ "Moderate oligozoospermia" ], "gold_answer": "Abnormal spermatogenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00939", "question": "What is associated with Abnormality of the lower limb?", "seeds": [ "Abnormality of the lower limb" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00940", "question": "What phenotype is associated with ZTTK syndrome?", "seeds": [ "ZTTK syndrome" ], "gold_answer": "Impaired visuospatial constructive cognition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00941", "question": "What phenotype is associated with Mitochondrial DNA depletion syndrome 4B (mngie type)?", "seeds": [ "Mitochondrial DNA depletion syndrome 4B (mngie type)" ], "gold_answer": "Multiple mitochondrial DNA deletions", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00942", "question": "What is associated with Abnormal gonadotropin-releasing hormone concentration?", "seeds": [ "Abnormal gonadotropin-releasing hormone concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00943", "question": "What is associated with Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction?", "seeds": [ "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction" ], "gold_answer": "Proportionate short stature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00944", "question": "What is associated with Joubert syndrome 39?", "seeds": [ "Joubert syndrome 39" ], "gold_answer": "Aplasia/Hypoplasia of the cerebellum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00945", "question": "What is associated with Abnormal play?", "seeds": [ "Abnormal play" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00946", "question": "What is associated with Muscular dystrophy, limb-girdle, autosomal recessive 23?", "seeds": [ "Muscular dystrophy, limb-girdle, autosomal recessive 23" ], "gold_answer": "Limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00947", "question": "What is associated with Triceps weakness?", "seeds": [ "Triceps weakness" ], "gold_answer": "Proximal upper limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00948", "question": "What phenotype is associated with Hyperinsulinism due to HNF1A deficiency?", "seeds": [ "Hyperinsulinism due to HNF1A deficiency" ], "gold_answer": "Syncope", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00949", "question": "What is associated with Knee joint effusion?", "seeds": [ "Knee joint effusion" ], "gold_answer": "Abnormality of the knee", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00950", "question": "What is associated with Wide radioulnar joints?", "seeds": [ "Wide radioulnar joints" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00951", "question": "What is associated with Epileptic encephalopathy, early infantile, 49?", "seeds": [ "Epileptic encephalopathy, early infantile, 49" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00952", "question": "What is associated with Abnormality of the sublingual glands?", "seeds": [ "Abnormality of the sublingual glands" ], "gold_answer": "Abnormal salivary gland morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00953", "question": "What is associated with Triangular shaped proximal phalanx of the 2nd toe?", "seeds": [ "Triangular shaped proximal phalanx of the 2nd toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00954", "question": "What is associated with Autosomal recessive spastic paraplegia type 56?", "seeds": [ "Autosomal recessive spastic paraplegia type 56" ], "gold_answer": "CYP2U1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_00955", "question": "What is associated with Fifth metacarpal with ulnar notch?", "seeds": [ "Fifth metacarpal with ulnar notch" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00956", "question": "What is associated with Abnormal dendritic cell count?", "seeds": [ "Abnormal dendritic cell count" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00957", "question": "What is associated with Dalen-Fuchs nodules?", "seeds": [ "Dalen-Fuchs nodules" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00958", "question": "What phenotype is associated with CIDEC-related familial partial lipodystrophy?", "seeds": [ "CIDEC-related familial partial lipodystrophy" ], "gold_answer": "Lipodystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00959", "question": "What phenotype is associated with Epidermolysis bullosa simplex, Dowling-Meara type?", "seeds": [ "Epidermolysis bullosa simplex, Dowling-Meara type" ], "gold_answer": "Oral mucosal blisters", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00960", "question": "What is associated with Facial hypertrichosis?", "seeds": [ "Facial hypertrichosis" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00961", "question": "What is associated with Full cheeks?", "seeds": [ "Full cheeks" ], "gold_answer": "Abnormal cheek morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00962", "question": "What is associated with 1-2 toe syndactyly?", "seeds": [ "1-2 toe syndactyly" ], "gold_answer": "Syndactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00963", "question": "What is associated with Ingrown nail?", "seeds": [ "Ingrown nail" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00964", "question": "What is associated with Partial duplication of the phalanges of the 4th finger?", "seeds": [ "Partial duplication of the phalanges of the 4th finger" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00965", "question": "What is associated with Tetralogy of Fallot with atrioventricular canal defect?", "seeds": [ "Tetralogy of Fallot with atrioventricular canal defect" ], "gold_answer": "Tetralogy of Fallot", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00966", "question": "What phenotype is associated with Microphthalmia, syndromic 3?", "seeds": [ "Microphthalmia, syndromic 3" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00967", "question": "What is associated with Anti-MAP1B antibody?", "seeds": [ "Anti-MAP1B antibody" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00968", "question": "What is associated with Atransferrinemia?", "seeds": [ "Atransferrinemia" ], "gold_answer": "Abnormal circulating globulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00969", "question": "What is associated with Meckel diverticulum?", "seeds": [ "Meckel diverticulum" ], "gold_answer": "Abnormal small intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00970", "question": "What is associated with Spinal muscular atrophy, distal, autosomal recessive, 1?", "seeds": [ "Spinal muscular atrophy, distal, autosomal recessive, 1" ], "gold_answer": "Abnormality of peripheral nerve conduction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00971", "question": "What is associated with Onycholysis of fingernails?", "seeds": [ "Onycholysis of fingernails" ], "gold_answer": "Onycholysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00972", "question": "What is associated with Abnormal hand metaphysis morphology?", "seeds": [ "Abnormal hand metaphysis morphology" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00973", "question": "What is associated with Autosomal dominant Charcot-Marie-Tooth disease type 2Q?", "seeds": [ "Autosomal dominant Charcot-Marie-Tooth disease type 2Q" ], "gold_answer": "DHTKD1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_00974", "question": "What is associated with Neonatal respiratory distress?", "seeds": [ "Neonatal respiratory distress" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00975", "question": "What is associated with Sinus node disease and myopia?", "seeds": [ "Sinus node disease and myopia" ], "gold_answer": "Myopia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00976", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 69?", "seeds": [ "Autosomal recessive spastic paraplegia type 69" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00977", "question": "What is associated with Microangiopathic hemolytic anemia?", "seeds": [ "Microangiopathic hemolytic anemia" ], "gold_answer": "Hemolytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00978", "question": "What is associated with Abnormal full-field electroretinogram?", "seeds": [ "Abnormal full-field electroretinogram" ], "gold_answer": "Abnormal electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00979", "question": "What is associated with Chorea, benign familial?", "seeds": [ "Chorea, benign familial" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00980", "question": "What is associated with Nasal hamartoma?", "seeds": [ "Nasal hamartoma" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00981", "question": "What is associated with Intramuscular lipoma?", "seeds": [ "Intramuscular lipoma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00982", "question": "What phenotype is associated with Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome?", "seeds": [ "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome" ], "gold_answer": "Esophageal ulceration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00983", "question": "What is associated with Submucous cleft hard palate?", "seeds": [ "Submucous cleft hard palate" ], "gold_answer": "Abnormal hard palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00984", "question": "What is associated with Glyoxalase deficiency?", "seeds": [ "Glyoxalase deficiency" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00985", "question": "What is associated with Hyperinsulinemic hypoglycemia, familial, 3?", "seeds": [ "Hyperinsulinemic hypoglycemia, familial, 3" ], "gold_answer": "Symptomatic seizures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00986", "question": "What is associated with ReNU syndrome?", "seeds": [ "ReNU syndrome" ], "gold_answer": "Skeletal muscle hypertrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00987", "question": "What is associated with Diamond-Blackfan anemia 13?", "seeds": [ "Diamond-Blackfan anemia 13" ], "gold_answer": "Abnormal erythrocyte enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00988", "question": "What is associated with Dyskinesia, seizures, and intellectual developmental disorder?", "seeds": [ "Dyskinesia, seizures, and intellectual developmental disorder" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00989", "question": "What is associated with Renal interstitial calcium oxalate?", "seeds": [ "Renal interstitial calcium oxalate" ], "gold_answer": "Calcium nephrolithiasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00990", "question": "What is associated with Triangular epiphyses of the thumb?", "seeds": [ "Triangular epiphyses of the thumb" ], "gold_answer": "Triangular epiphysis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00991", "question": "What is associated with Early progressive calcific cardiac valvular disease?", "seeds": [ "Early progressive calcific cardiac valvular disease" ], "gold_answer": "Cardiac valve calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00992", "question": "What is associated with Narrow joint spaces of wrist?", "seeds": [ "Narrow joint spaces of wrist" ], "gold_answer": "Abnormality of the wrist", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00993", "question": "What is associated with Sertoli cell hypoplasia?", "seeds": [ "Sertoli cell hypoplasia" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00994", "question": "What is associated with BLOOD GROUP--LUTHERAN INHIBITOR; INLU?", "seeds": [ "BLOOD GROUP--LUTHERAN INHIBITOR; INLU" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_00995", "question": "What is associated with Increased urinary non-proteinogenic amino acid level?", "seeds": [ "Increased urinary non-proteinogenic amino acid level" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_00996", "question": "What is associated with Elevated CSF 5-hydroxymethyluracil concentration?", "seeds": [ "Elevated CSF 5-hydroxymethyluracil concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_00997", "question": "What is associated with Fetal akinesia deformation sequence?", "seeds": [ "Fetal akinesia deformation sequence" ], "gold_answer": "KIF21A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_00998", "question": "What phenotype is associated with Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism?", "seeds": [ "Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism" ], "gold_answer": "Jaundice", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_00999", "question": "What is associated with Ivory epiphyses of the middle phalanges of the hand?", "seeds": [ "Ivory epiphyses of the middle phalanges of the hand" ], "gold_answer": "Ivory epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01000", "question": "What is associated with Fatigable weakness of speech muscles?", "seeds": [ "Fatigable weakness of speech muscles" ], "gold_answer": "Abnormal synaptic transmission at the neuromuscular junction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01001", "question": "What is associated with Ambiguous genitalia, male?", "seeds": [ "Ambiguous genitalia, male" ], "gold_answer": "Abnormal external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01002", "question": "What is associated with Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities?", "seeds": [ "Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01003", "question": "What is associated with Localized periodontitis?", "seeds": [ "Localized periodontitis" ], "gold_answer": "Abnormality of the gingiva", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01004", "question": "What is associated with Enlarged semicircular canal?", "seeds": [ "Enlarged semicircular canal" ], "gold_answer": "Abnormal semicircular canal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01005", "question": "What is associated with Femoral osteopoikilosis?", "seeds": [ "Femoral osteopoikilosis" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01006", "question": "What is associated with Upper limb muscle hypertrophy?", "seeds": [ "Upper limb muscle hypertrophy" ], "gold_answer": "Abnormality of muscle size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01007", "question": "What is associated with Peribronchovascular interstitial thickening?", "seeds": [ "Peribronchovascular interstitial thickening" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01008", "question": "What is associated with Squamosal suture synostosis?", "seeds": [ "Squamosal suture synostosis" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01009", "question": "What phenotype is associated with Placental insufficiency?", "seeds": [ "Placental insufficiency" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01010", "question": "What is associated with Midline sinus of philtrum?", "seeds": [ "Midline sinus of philtrum" ], "gold_answer": "Abnormal upper lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01011", "question": "What phenotype is associated with Deafness, autosomal dominant 81?", "seeds": [ "Deafness, autosomal dominant 81" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01012", "question": "What is associated with Praxis-induced seizure?", "seeds": [ "Praxis-induced seizure" ], "gold_answer": "Reflex seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01013", "question": "What is associated with Monoclonal elevation of intact IgG?", "seeds": [ "Monoclonal elevation of intact IgG" ], "gold_answer": "Increased circulating IgG concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01014", "question": "What is associated with LMNA-related congenital muscular dystrophy?", "seeds": [ "LMNA-related congenital muscular dystrophy" ], "gold_answer": "Limb joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01015", "question": "What phenotype is associated with Spermatogenic failure 88?", "seeds": [ "Spermatogenic failure 88" ], "gold_answer": "Spermatocyte maturation arrest", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01016", "question": "What is associated with Multiple mitochondrial DNA deletions?", "seeds": [ "Multiple mitochondrial DNA deletions" ], "gold_answer": "Muscle abnormality related to mitochondrial dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01017", "question": "What is associated with Sclerosis of the proximal phalanx of the 4th toe?", "seeds": [ "Sclerosis of the proximal phalanx of the 4th toe" ], "gold_answer": "Sclerosis of toe phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01018", "question": "What is associated with Neoplasm of the gallbladder?", "seeds": [ "Neoplasm of the gallbladder" ], "gold_answer": "Abnormal gallbladder morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01019", "question": "What is associated with Vogt striae?", "seeds": [ "Vogt striae" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01020", "question": "What phenotype is associated with Chromosome 10q26 deletion syndrome?", "seeds": [ "Chromosome 10q26 deletion syndrome" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01021", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 7?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 7" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01022", "question": "What is associated with Elevated CSF cholestanol concentration?", "seeds": [ "Elevated CSF cholestanol concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01023", "question": "What is associated with Chronic active Epstein-Barr virus infection?", "seeds": [ "Chronic active Epstein-Barr virus infection" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01024", "question": "What is associated with Craniorachischisis?", "seeds": [ "Craniorachischisis" ], "gold_answer": "Open neural tube defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01025", "question": "What is associated with Supernumerary tooth?", "seeds": [ "Supernumerary tooth" ], "gold_answer": "Abnormal number of teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01026", "question": "What is associated with Adrenal xanthomatosis?", "seeds": [ "Adrenal xanthomatosis" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01027", "question": "What is associated with Retinal arterial macroaneurysm with supravalvular pulmonic stenosis?", "seeds": [ "Retinal arterial macroaneurysm with supravalvular pulmonic stenosis" ], "gold_answer": "Abnormal pulmonary valve physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01028", "question": "What phenotype is associated with Hypoplastic left heart syndrome?", "seeds": [ "Hypoplastic left heart syndrome" ], "gold_answer": "Coronaryartery atherosclerosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01029", "question": "What is associated with SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome?", "seeds": [ "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome" ], "gold_answer": "SLC12A2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01030", "question": "What is associated with Elevated circulating 3-hydroxykynurenine concentration?", "seeds": [ "Elevated circulating 3-hydroxykynurenine concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01031", "question": "What phenotype is associated with Hypercholanemia, familial?", "seeds": [ "Hypercholanemia, familial" ], "gold_answer": "Pruritus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01032", "question": "What is associated with Elevated circulating methysterol concentration?", "seeds": [ "Elevated circulating methysterol concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01033", "question": "What is associated with Internal carotid artery calcification?", "seeds": [ "Internal carotid artery calcification" ], "gold_answer": "Carotid artery calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01034", "question": "What is associated with Infantile sensorineural hearing impairment?", "seeds": [ "Infantile sensorineural hearing impairment" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01035", "question": "What is associated with Physiological reactivity to cues?", "seeds": [ "Physiological reactivity to cues" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01036", "question": "What is associated with Post-capillary pulmonary hypertension?", "seeds": [ "Post-capillary pulmonary hypertension" ], "gold_answer": "Abnormality of pulmonary circulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01037", "question": "What is associated with Sudden infant death-dysgenesis of the testes syndrome?", "seeds": [ "Sudden infant death-dysgenesis of the testes syndrome" ], "gold_answer": "Sleep-related breathing disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01038", "question": "What is associated with Immunodeficiency 97 with autoinflammation?", "seeds": [ "Immunodeficiency 97 with autoinflammation" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01039", "question": "What is associated with Abnormal cerebral cortex morphology?", "seeds": [ "Abnormal cerebral cortex morphology" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01040", "question": "What is associated with Hypoplastic vertebral bodies?", "seeds": [ "Hypoplastic vertebral bodies" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01041", "question": "What is associated with Functional abnormality of male internal genitalia?", "seeds": [ "Functional abnormality of male internal genitalia" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01042", "question": "What phenotype is associated with Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes?", "seeds": [ "Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes" ], "gold_answer": "Myopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01043", "question": "What phenotype is associated with ARTICHOKE, MODIFICATION OF TASTE BY?", "seeds": [ "ARTICHOKE, MODIFICATION OF TASTE BY" ], "gold_answer": "Abnormality of taste sensation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01044", "question": "What is associated with Coalescence of tarsal bones?", "seeds": [ "Coalescence of tarsal bones" ], "gold_answer": "Tarsal synostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01045", "question": "What phenotype is associated with Night blindness, congenital stationary, type 1G?", "seeds": [ "Night blindness, congenital stationary, type 1G" ], "gold_answer": "Rod-cone dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01046", "question": "What is associated with Increased red cell sickling tendency?", "seeds": [ "Increased red cell sickling tendency" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01047", "question": "What is associated with Patchy sclerosis of the middle phalanx of the 5th toe?", "seeds": [ "Patchy sclerosis of the middle phalanx of the 5th toe" ], "gold_answer": "Sclerosis of 5th toe phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01048", "question": "What is associated with Subcortical cerebral atrophy?", "seeds": [ "Subcortical cerebral atrophy" ], "gold_answer": "Brain atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01049", "question": "What is associated with Choroidal dystrophy, central areolar 3?", "seeds": [ "Choroidal dystrophy, central areolar 3" ], "gold_answer": "Yellow/white retinal lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01050", "question": "What is associated with Idiopathic catatonia?", "seeds": [ "Idiopathic catatonia" ], "gold_answer": "Reduced consciousness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01051", "question": "What is associated with Highly arched eyebrow?", "seeds": [ "Highly arched eyebrow" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01052", "question": "What is associated with Elevated circulating cholesterol sulfate concentration?", "seeds": [ "Elevated circulating cholesterol sulfate concentration" ], "gold_answer": "Abnormal circulating cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01053", "question": "What is associated with Stippled chondral calcification?", "seeds": [ "Stippled chondral calcification" ], "gold_answer": "Abnormal cartilage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01054", "question": "What is associated with ELECTROENCEPHALOGRAPHIC PATTERNS?", "seeds": [ "ELECTROENCEPHALOGRAPHIC PATTERNS" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01055", "question": "What is associated with Abnormality of neutrophils?", "seeds": [ "Abnormality of neutrophils" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01056", "question": "What is associated with Positive bloodstream influenza nucleic test?", "seeds": [ "Positive bloodstream influenza nucleic test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01057", "question": "What is associated with Spastic paraplegia 33, autosomal dominant?", "seeds": [ "Spastic paraplegia 33, autosomal dominant" ], "gold_answer": "Abnormality of the ankle", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01058", "question": "What is associated with Deficit in nonword repetition?", "seeds": [ "Deficit in nonword repetition" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01059", "question": "What is associated with Arcuate intimal/medial granulomatous venulitis?", "seeds": [ "Arcuate intimal/medial granulomatous venulitis" ], "gold_answer": "Abnormal arcuate vein intima/media morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01060", "question": "What is associated with Branchiootorenal syndrome 1?", "seeds": [ "Branchiootorenal syndrome 1" ], "gold_answer": "Abnormal seventh cranial physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01061", "question": "What is associated with Ectopic posterior pituitary?", "seeds": [ "Ectopic posterior pituitary" ], "gold_answer": "Abnormal posterior pituitary morphogenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01062", "question": "What is associated with Sensory exotropia?", "seeds": [ "Sensory exotropia" ], "gold_answer": "Heterotropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01063", "question": "What is associated with Severe norovirus infection?", "seeds": [ "Severe norovirus infection" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01064", "question": "What is associated with Cone-shaped epiphysis of the middle phalanx of the 5th finger?", "seeds": [ "Cone-shaped epiphysis of the middle phalanx of the 5th finger" ], "gold_answer": "Cone-shaped epiphyses of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01065", "question": "What is associated with Irregular sclerotic endplates?", "seeds": [ "Irregular sclerotic endplates" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01066", "question": "What phenotype is associated with Bleeding disorder, platelet-type, 22?", "seeds": [ "Bleeding disorder, platelet-type, 22" ], "gold_answer": "Thrombocytopenia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01067", "question": "What is associated with Focal facial dermal dysplasia type II?", "seeds": [ "Focal facial dermal dysplasia type II" ], "gold_answer": "Ectropion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01068", "question": "What is associated with Elevated circulating myoglobin concentration?", "seeds": [ "Elevated circulating myoglobin concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01069", "question": "What phenotype is associated with Warburg-Cinotti syndrome?", "seeds": [ "Warburg-Cinotti syndrome" ], "gold_answer": "Wrist flexion contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01070", "question": "What is associated with Descending thoracic aorta aneurysm?", "seeds": [ "Descending thoracic aorta aneurysm" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01071", "question": "What is associated with Pseudoepiphysis of the distal phalanx of the 5th finger?", "seeds": [ "Pseudoepiphysis of the distal phalanx of the 5th finger" ], "gold_answer": "Abnormality of the epiphyses of the distal phalanx of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01072", "question": "What is associated with 2-methylbutyryl-CoA dehydrogenase deficiency?", "seeds": [ "2-methylbutyryl-CoA dehydrogenase deficiency" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01073", "question": "What is associated with Abnormal placental membrane morphology?", "seeds": [ "Abnormal placental membrane morphology" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01074", "question": "What is associated with Enlarged epiphyses of the 3rd finger?", "seeds": [ "Enlarged epiphyses of the 3rd finger" ], "gold_answer": "Abnormal hand epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01075", "question": "What is associated with Diastrophic dysplasia?", "seeds": [ "Diastrophic dysplasia" ], "gold_answer": "Upper extremity joint dislocation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01076", "question": "What is associated with Usher syndrome, type IV?", "seeds": [ "Usher syndrome, type IV" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01077", "question": "What is associated with Focal dermal aplasia/hypoplasia?", "seeds": [ "Focal dermal aplasia/hypoplasia" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01078", "question": "What is associated with Dust mite allergy?", "seeds": [ "Dust mite allergy" ], "gold_answer": "Allergy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01079", "question": "What is associated with Ectopic scrotum?", "seeds": [ "Ectopic scrotum" ], "gold_answer": "Abnormal external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01080", "question": "What is associated with Abnormality of skin pigmentation?", "seeds": [ "Abnormality of skin pigmentation" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01081", "question": "What is associated with Sparse medial eyebrow?", "seeds": [ "Sparse medial eyebrow" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01082", "question": "What phenotype is associated with Pediatric systemic lupus erythematosus?", "seeds": [ "Pediatric systemic lupus erythematosus" ], "gold_answer": "Antinuclear antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01083", "question": "What is associated with Abnormal posterior semicircular canal morphology?", "seeds": [ "Abnormal posterior semicircular canal morphology" ], "gold_answer": "Abnormal semicircular canal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01084", "question": "What phenotype is associated with Posterior cortical atrophy?", "seeds": [ "Posterior cortical atrophy" ], "gold_answer": "Abnormal rapid eye movement sleep", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01085", "question": "What is associated with Abnormal Bowman space morphology?", "seeds": [ "Abnormal Bowman space morphology" ], "gold_answer": "Abnormal renal cortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01086", "question": "What is associated with Cerebral cavernous malformations 2?", "seeds": [ "Cerebral cavernous malformations 2" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01087", "question": "What is associated with Decreased CSF albumin concentration?", "seeds": [ "Decreased CSF albumin concentration" ], "gold_answer": "Abnormal CSF protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01088", "question": "What phenotype is associated with Spermatogenic failure 74?", "seeds": [ "Spermatogenic failure 74" ], "gold_answer": "Spermatogenesis maturation arrest", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01089", "question": "What is associated with Hepatic adenomas, familial?", "seeds": [ "Hepatic adenomas, familial" ], "gold_answer": "Neoplasm of the liver", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01090", "question": "What is associated with Fructose intolerance?", "seeds": [ "Fructose intolerance" ], "gold_answer": "Abnormal metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01091", "question": "What is associated with Calcification of joints and arteries?", "seeds": [ "Calcification of joints and arteries" ], "gold_answer": "Ectopic calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01092", "question": "What is associated with Hypomature enamel?", "seeds": [ "Hypomature enamel" ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01093", "question": "What phenotype is associated with Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges?", "seeds": [ "Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges" ], "gold_answer": "Shortening of all distal phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01094", "question": "What is associated with Ameloblastoma?", "seeds": [ "Ameloblastoma" ], "gold_answer": "Odontogenic neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01095", "question": "What is associated with Stiff interphalangeal joints?", "seeds": [ "Stiff interphalangeal joints" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01096", "question": "What is associated with Optic atrophy 3, autosomal dominant?", "seeds": [ "Optic atrophy 3, autosomal dominant" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01097", "question": "What is associated with Hernia, anterior diaphragmatic?", "seeds": [ "Hernia, anterior diaphragmatic" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01098", "question": "What is associated with Splenic cyst?", "seeds": [ "Splenic cyst" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01099", "question": "What phenotype is associated with AL amyloidosis?", "seeds": [ "AL amyloidosis" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01100", "question": "What is associated with Reduced erythrocyte porphobilinogen deaminase activity?", "seeds": [ "Reduced erythrocyte porphobilinogen deaminase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01101", "question": "What is associated with Arcuate vein lumen organized thrombi?", "seeds": [ "Arcuate vein lumen organized thrombi" ], "gold_answer": "Abnormal arcuate vein lumen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01102", "question": "What is associated with Localized to upper eyelid?", "seeds": [ "Localized to upper eyelid" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01103", "question": "What is associated with Elevated CSF dihydrouracil concentration?", "seeds": [ "Elevated CSF dihydrouracil concentration" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01104", "question": "What is associated with Macular dystrophy, X-linked?", "seeds": [ "Macular dystrophy, X-linked" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01105", "question": "What is associated with Spina bifida occulta at L5?", "seeds": [ "Spina bifida occulta at L5" ], "gold_answer": "Spinal dysraphism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01106", "question": "What phenotype is associated with Septopreoptic holoprosencephaly?", "seeds": [ "Septopreoptic holoprosencephaly" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01107", "question": "What is associated with Agenesis of primary maxillary lateral incisor?", "seeds": [ "Agenesis of primary maxillary lateral incisor" ], "gold_answer": "Agenesis of incisor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01108", "question": "What is associated with Bursitis?", "seeds": [ "Bursitis" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01109", "question": "What is associated with Plantar edema?", "seeds": [ "Plantar edema" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01110", "question": "What phenotype is associated with Developmental delay, dysmorphic facies, and brain anomalies?", "seeds": [ "Developmental delay, dysmorphic facies, and brain anomalies" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01111", "question": "What is associated with Malignant hyperthermia, susceptibility to, 3?", "seeds": [ "Malignant hyperthermia, susceptibility to, 3" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01112", "question": "What phenotype is associated with Urticaria, aquagenic?", "seeds": [ "Urticaria, aquagenic" ], "gold_answer": "Urticaria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01113", "question": "What is associated with Reduced muscle aconitase activity?", "seeds": [ "Reduced muscle aconitase activity" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01114", "question": "What phenotype is associated with Perrault syndrome?", "seeds": [ "Perrault syndrome" ], "gold_answer": "Cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01115", "question": "What is associated with Brain fog?", "seeds": [ "Brain fog" ], "gold_answer": "Cognitive impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01116", "question": "What is associated with Persistent falcine venous sinus?", "seeds": [ "Persistent falcine venous sinus" ], "gold_answer": "Abnormal cerebral venous sinus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01117", "question": "What phenotype is associated with Hepatic venoocclusive disease with immunodeficiency?", "seeds": [ "Hepatic venoocclusive disease with immunodeficiency" ], "gold_answer": "Endocardial fibrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01118", "question": "What is associated with 3-methylglutaconic aciduria type 3?", "seeds": [ "3-methylglutaconic aciduria type 3" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01119", "question": "What is associated with Epileptic aura?", "seeds": [ "Epileptic aura" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01120", "question": "What is associated with Urethrocele?", "seeds": [ "Urethrocele" ], "gold_answer": "Abnormality of the lower urinary tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01121", "question": "What phenotype is associated with Congenitally corrected transposition of the great arteries?", "seeds": [ "Congenitally corrected transposition of the great arteries" ], "gold_answer": "Mesocardia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01122", "question": "What is associated with Elevated circulating C12 acylcarnitine concentration?", "seeds": [ "Elevated circulating C12 acylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01123", "question": "What is associated with Periventricular nodular heterotopia?", "seeds": [ "Periventricular nodular heterotopia" ], "gold_answer": "Abnormality of the pylorus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01124", "question": "What phenotype is associated with Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities?", "seeds": [ "Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" ], "gold_answer": "Absent posterior alpha rhythm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01125", "question": "What is associated with Abnormality of the endocrine system?", "seeds": [ "Abnormality of the endocrine system" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01126", "question": "What is associated with Fundus hyperpigmentation?", "seeds": [ "Fundus hyperpigmentation" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01127", "question": "What is associated with Thoracoabdominal eventration?", "seeds": [ "Thoracoabdominal eventration" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01128", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 25?", "seeds": [ "Autosomal recessive spastic paraplegia type 25" ], "gold_answer": "Herniation of intervertebral nuclei", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01129", "question": "What is associated with Osteogenesis imperfecta, type IX?", "seeds": [ "Osteogenesis imperfecta, type IX" ], "gold_answer": "Aplasia/hypoplasia involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01130", "question": "What is associated with Methemoglobinemia, Alpha type?", "seeds": [ "Methemoglobinemia, Alpha type" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01131", "question": "What is associated with Primary triglyceride deposit cardiomyovasculopathy?", "seeds": [ "Primary triglyceride deposit cardiomyovasculopathy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01132", "question": "What is associated with Reduced tissue arginine:glycine amidinotransferase activity?", "seeds": [ "Reduced tissue arginine:glycine amidinotransferase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01133", "question": "What is associated with Small intestinal polyp?", "seeds": [ "Small intestinal polyp" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01134", "question": "What is associated with Inability to puff cheeks?", "seeds": [ "Inability to puff cheeks" ], "gold_answer": "Abnormality of facial musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01135", "question": "What is associated with Parkinson disease 23, autosomal recessive early-onset?", "seeds": [ "Parkinson disease 23, autosomal recessive early-onset" ], "gold_answer": "Abnormal cerebral cortex morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01136", "question": "What is associated with Premature ovarian failure 7?", "seeds": [ "Premature ovarian failure 7" ], "gold_answer": "Aplasia/hypoplasia of the uterus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01137", "question": "What is associated with Severe infection?", "seeds": [ "Severe infection" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01138", "question": "What phenotype is associated with Silver-Russell syndrome?", "seeds": [ "Silver-Russell syndrome" ], "gold_answer": "Cafe-au-lait spot", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01139", "question": "What is associated with Septate gallbladder?", "seeds": [ "Septate gallbladder" ], "gold_answer": "Abnormality of the gallbladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01140", "question": "What is associated with Exstrophy?", "seeds": [ "Exstrophy" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01141", "question": "What is associated with Abnormal enzyme activity in cultured fibroblasts?", "seeds": [ "Abnormal enzyme activity in cultured fibroblasts" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01142", "question": "What is associated with Hematological neoplasm?", "seeds": [ "Hematological neoplasm" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01143", "question": "What is associated with Occipital cortical atrophy?", "seeds": [ "Occipital cortical atrophy" ], "gold_answer": "Cerebral atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01144", "question": "What is associated with Abnormality of toe proximal phalanx?", "seeds": [ "Abnormality of toe proximal phalanx" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01145", "question": "What is associated with Round face?", "seeds": [ "Round face" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01146", "question": "What is associated with Epiphyseal stippling of the metacarpals?", "seeds": [ "Epiphyseal stippling of the metacarpals" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01147", "question": "What phenotype is associated with Epilepsy, idiopathic generalized, susceptibility to, 3?", "seeds": [ "Epilepsy, idiopathic generalized, susceptibility to, 3" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01148", "question": "What is associated with Urinary hesitancy?", "seeds": [ "Urinary hesitancy" ], "gold_answer": "Abnormality of the lower urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01149", "question": "What is associated with Acrodysostosis?", "seeds": [ "Acrodysostosis" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01150", "question": "What is associated with Fetal iodine deficiency disorder?", "seeds": [ "Fetal iodine deficiency disorder" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01151", "question": "What is associated with Muscular subvalvular aortic stenosis?", "seeds": [ "Muscular subvalvular aortic stenosis" ], "gold_answer": "Abnormal left ventricular outflow tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01152", "question": "What is associated with Laterally deficient tibial plateaux?", "seeds": [ "Laterally deficient tibial plateaux" ], "gold_answer": "Abnormality of the calf", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01153", "question": "What phenotype is associated with Hypertriglyceridemia, familial?", "seeds": [ "Hypertriglyceridemia, familial" ], "gold_answer": "Increased VLDL cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01154", "question": "What is associated with Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia?", "seeds": [ "Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01155", "question": "What is associated with Florid cemento-osseous dysplasia?", "seeds": [ "Florid cemento-osseous dysplasia" ], "gold_answer": "Abnormality of the voice", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01156", "question": "What is associated with Alpha-aminobutyric aciduria?", "seeds": [ "Alpha-aminobutyric aciduria" ], "gold_answer": "Aciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01157", "question": "What is associated with Pituitary spindle cell oncocytoma?", "seeds": [ "Pituitary spindle cell oncocytoma" ], "gold_answer": "Abnormal pituitary gland morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01158", "question": "What phenotype is associated with Angelman syndrome due to imprinting defect in 15q11-q13?", "seeds": [ "Angelman syndrome due to imprinting defect in 15q11-q13" ], "gold_answer": "Iris hypopigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01159", "question": "What is associated with ALG8-CDG?", "seeds": [ "ALG8-CDG" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01160", "question": "What is associated with Blocked Eustachian tube?", "seeds": [ "Blocked Eustachian tube" ], "gold_answer": "Abnormal Eustachian tube morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01161", "question": "What is associated with Progressive neurologic deterioration?", "seeds": [ "Progressive neurologic deterioration" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01162", "question": "What is associated with Triangular shaped phalanges of the 2nd toe?", "seeds": [ "Triangular shaped phalanges of the 2nd toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01163", "question": "What is associated with Hepatic bridging fibrosis?", "seeds": [ "Hepatic bridging fibrosis" ], "gold_answer": "Hepatic fibrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01164", "question": "What phenotype is associated with Carnitine palmitoyl transferase II deficiency, neonatal form?", "seeds": [ "Carnitine palmitoyl transferase II deficiency, neonatal form" ], "gold_answer": "Agenesis of corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01165", "question": "What is associated with Anosmia, congenital?", "seeds": [ "Anosmia, congenital" ], "gold_answer": "Abnormality of the sense of smell", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01166", "question": "What is associated with Abnormal intestine morphology?", "seeds": [ "Abnormal intestine morphology" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01167", "question": "What is associated with Parastremmatic dwarfism?", "seeds": [ "Parastremmatic dwarfism" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01168", "question": "What is associated with Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration?", "seeds": [ "Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01169", "question": "What is associated with Dysregulated negative emotional state?", "seeds": [ "Dysregulated negative emotional state" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01170", "question": "What is associated with Proteasome-associated autoinflammatory syndrome 4?", "seeds": [ "Proteasome-associated autoinflammatory syndrome 4" ], "gold_answer": "Joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01171", "question": "What is associated with Dysharmonic delayed bone age?", "seeds": [ "Dysharmonic delayed bone age" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01172", "question": "What is associated with Symphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic arch?", "seeds": [ "Symphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic arch" ], "gold_answer": "Phalangeal cone-shaped epiphyses", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01173", "question": "What is associated with Epileptic encephalopathy, early infantile, 45?", "seeds": [ "Epileptic encephalopathy, early infantile, 45" ], "gold_answer": "Abnormal cerebral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01174", "question": "What is associated with Arterial stenosis?", "seeds": [ "Arterial stenosis" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01175", "question": "What is associated with Decreased CD4+ effector memory T cell proportion?", "seeds": [ "Decreased CD4+ effector memory T cell proportion" ], "gold_answer": "Increased CD4+ memory T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01176", "question": "What is associated with Abnormal circulating chemokine concentration?", "seeds": [ "Abnormal circulating chemokine concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01177", "question": "What is associated with Delayed ability to roll over?", "seeds": [ "Delayed ability to roll over" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01178", "question": "What is associated with Subchorionic thrombohematoma?", "seeds": [ "Subchorionic thrombohematoma" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01179", "question": "What phenotype is associated with von Hippel-Lindau syndrome?", "seeds": [ "von Hippel-Lindau syndrome" ], "gold_answer": "Pulmonary infiltrates", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01180", "question": "What is associated with Abnormal total natural killer cell count?", "seeds": [ "Abnormal total natural killer cell count" ], "gold_answer": "Abnormal natural killer cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01181", "question": "What is associated with Deafness, autosomal recessive 36, with or without vestibular involvement?", "seeds": [ "Deafness, autosomal recessive 36, with or without vestibular involvement" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01182", "question": "What is associated with Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome?", "seeds": [ "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" ], "gold_answer": "Impaired continence", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01183", "question": "What is associated with Nystagmus 4, congenital, autosomal dominant?", "seeds": [ "Nystagmus 4, congenital, autosomal dominant" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01184", "question": "What is associated with Split-Hand/foot malformation 2?", "seeds": [ "Split-Hand/foot malformation 2" ], "gold_answer": "Aplasia/Hypoplasia involving the metacarpal bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01185", "question": "What is associated with Capillary leak?", "seeds": [ "Capillary leak" ], "gold_answer": "Abnormal capillary physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01186", "question": "What is associated with Elevated circulating tenascin-C concentration?", "seeds": [ "Elevated circulating tenascin-C concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01187", "question": "What is associated with Hypoisoleucinemia?", "seeds": [ "Hypoisoleucinemia" ], "gold_answer": "Abnormal circulating isoleucine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01188", "question": "What is associated with Deafness, autosomal recessive 115?", "seeds": [ "Deafness, autosomal recessive 115" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01189", "question": "What is associated with Subepidermal blistering?", "seeds": [ "Subepidermal blistering" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01190", "question": "What phenotype is associated with Fibular aplasia-complex brachydactyly syndrome?", "seeds": [ "Fibular aplasia-complex brachydactyly syndrome" ], "gold_answer": "Micromelia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01191", "question": "What is associated with Abnormal erythrocyte enzyme concentration or activity?", "seeds": [ "Abnormal erythrocyte enzyme concentration or activity" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01192", "question": "What is associated with Curved phalanges of the 5th finger?", "seeds": [ "Curved phalanges of the 5th finger" ], "gold_answer": "Abnormal 5th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01193", "question": "What is associated with Decreased HDL3a concentration?", "seeds": [ "Decreased HDL3a concentration" ], "gold_answer": "Abnormal HDL subfraction concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01194", "question": "What is associated with Myotonic dystrophy 1?", "seeds": [ "Myotonic dystrophy 1" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01195", "question": "What is associated with Torus palatinus?", "seeds": [ "Torus palatinus" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01196", "question": "What is associated with Elevated urinary histamine level?", "seeds": [ "Elevated urinary histamine level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01197", "question": "What is associated with Peripheral visual field loss?", "seeds": [ "Peripheral visual field loss" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01198", "question": "What is associated with Pontocerebellar hypoplasia type 10?", "seeds": [ "Pontocerebellar hypoplasia type 10" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01199", "question": "What is associated with Abnormal transition from wakefulness to sleep?", "seeds": [ "Abnormal transition from wakefulness to sleep" ], "gold_answer": "Parasomnia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01200", "question": "What is associated with Renal tubular acidosis?", "seeds": [ "Renal tubular acidosis" ], "gold_answer": "Renal tubular dysfunction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01201", "question": "What is associated with Intercrural pterygium?", "seeds": [ "Intercrural pterygium" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01202", "question": "What is associated with Elevated urinary catecholamine level?", "seeds": [ "Elevated urinary catecholamine level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01203", "question": "What is associated with Chordoma?", "seeds": [ "Chordoma" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01204", "question": "What is associated with Hemangioma?", "seeds": [ "Hemangioma" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01205", "question": "What is associated with Sensorineural hearing loss-early graying-essential tremor syndrome?", "seeds": [ "Sensorineural hearing loss-early graying-essential tremor syndrome" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01206", "question": "What is associated with Epiphyseal stippling?", "seeds": [ "Epiphyseal stippling" ], "gold_answer": "Abnormal epiphyseal ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01207", "question": "What phenotype is associated with Growth delay due to insulin-like growth factor type 1 deficiency?", "seeds": [ "Growth delay due to insulin-like growth factor type 1 deficiency" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01208", "question": "What is associated with Septooptic dysplasia?", "seeds": [ "Septooptic dysplasia" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01209", "question": "What is associated with Leukocyte inclusion bodies?", "seeds": [ "Leukocyte inclusion bodies" ], "gold_answer": "Abnormal neutrophil morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01210", "question": "What is associated with Toe dactylitis?", "seeds": [ "Toe dactylitis" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01211", "question": "What is associated with Mosaic attenuation pattern in lung?", "seeds": [ "Mosaic attenuation pattern in lung" ], "gold_answer": "Abnormal pulmonary thoracic imaging finding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01212", "question": "What is associated with Extremities cold to touch?", "seeds": [ "Extremities cold to touch" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01213", "question": "What is associated with Erythroid hypoplasia?", "seeds": [ "Erythroid hypoplasia" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01214", "question": "What is associated with Decreased circulating parathyroid hormone level?", "seeds": [ "Decreased circulating parathyroid hormone level" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01215", "question": "What is associated with Prolonged G2 phase of cell cycle?", "seeds": [ "Prolonged G2 phase of cell cycle" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01216", "question": "What is associated with Neutrophilia, hereditary?", "seeds": [ "Neutrophilia, hereditary" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01217", "question": "What phenotype is associated with Warburg micro syndrome 4?", "seeds": [ "Warburg micro syndrome 4" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01218", "question": "What is associated with Focal emotional seizure with anger?", "seeds": [ "Focal emotional seizure with anger" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01219", "question": "What is associated with Femoral osteopoikilosis?", "seeds": [ "Femoral osteopoikilosis" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01220", "question": "What is associated with Short middle phalanx of the 5th finger?", "seeds": [ "Short middle phalanx of the 5th finger" ], "gold_answer": "Short finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01221", "question": "What phenotype is associated with Epiphyseal dysplasia, multiple, 1?", "seeds": [ "Epiphyseal dysplasia, multiple, 1" ], "gold_answer": "Generalized joint hypermobility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01222", "question": "What is associated with Broad distal phalanx of the 5th toe?", "seeds": [ "Broad distal phalanx of the 5th toe" ], "gold_answer": "Broad phalanges of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01223", "question": "What phenotype is associated with Pulmonary hypertension, primary, 6?", "seeds": [ "Pulmonary hypertension, primary, 6" ], "gold_answer": "Failure to thrive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01224", "question": "What phenotype is associated with Leukodystrophy, progressive, early childhood-onset?", "seeds": [ "Leukodystrophy, progressive, early childhood-onset" ], "gold_answer": "Peripheral neuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01225", "question": "What is associated with Night blindness, congenital stationary, autosomal dominant 1?", "seeds": [ "Night blindness, congenital stationary, autosomal dominant 1" ], "gold_answer": "Abnormal light- and dark-adapted electroretinogram", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01226", "question": "What is associated with Infant botulism?", "seeds": [ "Infant botulism" ], "gold_answer": "Abnormal esophagus physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01227", "question": "What is associated with Flexner-Wintersteiner rosette?", "seeds": [ "Flexner-Wintersteiner rosette" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01228", "question": "What is associated with Abnormal static perimetry test?", "seeds": [ "Abnormal static perimetry test" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01229", "question": "What is associated with Patchy sclerosis of finger phalanx?", "seeds": [ "Patchy sclerosis of finger phalanx" ], "gold_answer": "Patchy sclerosis of hand bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01230", "question": "What phenotype is associated with Proximal toe symphalangism?", "seeds": [ "Proximal toe symphalangism" ], "gold_answer": "Finger clinodactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01231", "question": "What is associated with Leukemia, acute lymphocytic, susceptibility to, 1?", "seeds": [ "Leukemia, acute lymphocytic, susceptibility to, 1" ], "gold_answer": "Acute leukemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01232", "question": "What is associated with Finger flexor weakness?", "seeds": [ "Finger flexor weakness" ], "gold_answer": "Hand muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01233", "question": "What is associated with Intestinal fistula?", "seeds": [ "Intestinal fistula" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01234", "question": "What is associated with Urethral atresia, female?", "seeds": [ "Urethral atresia, female" ], "gold_answer": "Urethral atresia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01235", "question": "What is associated with Aplasia of the 5th metacarpal?", "seeds": [ "Aplasia of the 5th metacarpal" ], "gold_answer": "Aplasia of metacarpal bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01236", "question": "What is associated with Prostate mass?", "seeds": [ "Prostate mass" ], "gold_answer": "Abnormal prostate morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01237", "question": "What is associated with Hypoplastic carotid canal?", "seeds": [ "Hypoplastic carotid canal" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01238", "question": "What is associated with Incomplete partition of the cochlea type II?", "seeds": [ "Incomplete partition of the cochlea type II" ], "gold_answer": "Cochlear malformation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01239", "question": "What is associated with Epilepsy, idiopathic generalized, susceptibility to, 9?", "seeds": [ "Epilepsy, idiopathic generalized, susceptibility to, 9" ], "gold_answer": "Vertigo", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01240", "question": "What is associated with Hypoplasia of the ulna?", "seeds": [ "Hypoplasia of the ulna" ], "gold_answer": "Forearm undergrowth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01241", "question": "What is associated with Alpha-Fetoprotein deficiency?", "seeds": [ "Alpha-Fetoprotein deficiency" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01242", "question": "What is associated with Neuronopathy, distal hereditary motor, type IIB?", "seeds": [ "Neuronopathy, distal hereditary motor, type IIB" ], "gold_answer": "Abnormality of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01243", "question": "What is associated with Abnormal respiratory system physiology?", "seeds": [ "Abnormal respiratory system physiology" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01244", "question": "What is associated with Abnormal circulating fibroblast growth factor 23 concentration?", "seeds": [ "Abnormal circulating fibroblast growth factor 23 concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01245", "question": "What is associated with Neutral hyperaminoaciduria?", "seeds": [ "Neutral hyperaminoaciduria" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01246", "question": "What phenotype is associated with Unilateral renal hypoplasia?", "seeds": [ "Unilateral renal hypoplasia" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01247", "question": "What is associated with Narcolepsy type 1?", "seeds": [ "Narcolepsy type 1" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01248", "question": "What is associated with Ophthalmoplegia totalis with ptosis and miosis?", "seeds": [ "Ophthalmoplegia totalis with ptosis and miosis" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01249", "question": "What is associated with Myoclonic seizure?", "seeds": [ "Myoclonic seizure" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01250", "question": "What is associated with Abnormal speech pattern?", "seeds": [ "Abnormal speech pattern" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01251", "question": "What is associated with Hypoplastic radial head?", "seeds": [ "Hypoplastic radial head" ], "gold_answer": "Abnormality of the radial head", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01252", "question": "What is associated with True distance exotropia?", "seeds": [ "True distance exotropia" ], "gold_answer": "Distance exotropia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01253", "question": "What is associated with X-linked Charcot-Marie-Tooth disease type 1?", "seeds": [ "X-linked Charcot-Marie-Tooth disease type 1" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01254", "question": "What is associated with Increased vertical cup-to-disc ratio?", "seeds": [ "Increased vertical cup-to-disc ratio" ], "gold_answer": "Increased cup-to-disc ratio", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01255", "question": "What is associated with Pulmonary mycetoma?", "seeds": [ "Pulmonary mycetoma" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01256", "question": "What is associated with CLOVES syndrome?", "seeds": [ "CLOVES syndrome" ], "gold_answer": "Hematuria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01257", "question": "What phenotype is associated with Livedoid vasculopathy?", "seeds": [ "Livedoid vasculopathy" ], "gold_answer": "Anti-Ro52/TRIM21 antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01258", "question": "What is associated with Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia?", "seeds": [ "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia" ], "gold_answer": "G6PC1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01259", "question": "What is associated with Hepatic amyloidosis?", "seeds": [ "Hepatic amyloidosis" ], "gold_answer": "Amyloid deposition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01260", "question": "What phenotype is associated with Obesity and hypopigmentation?", "seeds": [ "Obesity and hypopigmentation" ], "gold_answer": "Hepatic steatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01261", "question": "What is associated with Requires heterozygosity?", "seeds": [ "Requires heterozygosity" ], "gold_answer": "Inheritance qualifier", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01262", "question": "What is associated with Urethral stricture?", "seeds": [ "Urethral stricture" ], "gold_answer": "Abnormality of the urethra", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01263", "question": "What is associated with Acrokeratosis?", "seeds": [ "Acrokeratosis" ], "gold_answer": "Epidermal thickening", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01264", "question": "What is associated with Scapuloperoneal myopathy?", "seeds": [ "Scapuloperoneal myopathy" ], "gold_answer": "Amyotrophy involving the shoulder musculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01265", "question": "What is associated with Charcot-Marie-Tooth disease, demyelinating, type 4F?", "seeds": [ "Charcot-Marie-Tooth disease, demyelinating, type 4F" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01266", "question": "What is associated with Colonic fibrinopurulent exudate?", "seeds": [ "Colonic fibrinopurulent exudate" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01267", "question": "What is associated with Aplasia/Hypoplasia involving the sinuses?", "seeds": [ "Aplasia/Hypoplasia involving the sinuses" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01268", "question": "What is associated with Positive CSF VDRL test?", "seeds": [ "Positive CSF VDRL test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01269", "question": "What is associated with Hypoalbuminemia?", "seeds": [ "Hypoalbuminemia" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01270", "question": "What is associated with Dermatitis herpetiformis, familial?", "seeds": [ "Dermatitis herpetiformis, familial" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01271", "question": "What is associated with Preterm premature rupture of the membranes?", "seeds": [ "Preterm premature rupture of the membranes" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01272", "question": "What phenotype is associated with Heme oxygenase-1 deficiency?", "seeds": [ "Heme oxygenase-1 deficiency" ], "gold_answer": "Cervical lymphadenopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01273", "question": "What is associated with Enlarged lacrimal glands?", "seeds": [ "Enlarged lacrimal glands" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01274", "question": "What phenotype is associated with Neuronopathy, distal hereditary motor, type VIIA?", "seeds": [ "Neuronopathy, distal hereditary motor, type VIIA" ], "gold_answer": "Vocal cord paresis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01275", "question": "What phenotype is associated with X-linked acrogigantism?", "seeds": [ "X-linked acrogigantism" ], "gold_answer": "Abdominal distention", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01276", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 20?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 20" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01277", "question": "What is associated with Mesangial matrix expansion?", "seeds": [ "Mesangial matrix expansion" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01278", "question": "What is associated with Haim-Munk syndrome?", "seeds": [ "Haim-Munk syndrome" ], "gold_answer": "Abnormal skin morphology of the palm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01279", "question": "What is associated with Autosomal recessive ataxia due to ubiquinone deficiency?", "seeds": [ "Autosomal recessive ataxia due to ubiquinone deficiency" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01280", "question": "What phenotype is associated with Familial infantile bilateral striatal necrosis?", "seeds": [ "Familial infantile bilateral striatal necrosis" ], "gold_answer": "Esophageal neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01281", "question": "What is associated with Primary hyperparathyroidism?", "seeds": [ "Primary hyperparathyroidism" ], "gold_answer": "Abnormality of the parathyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01282", "question": "What is associated with Abnormal spermatogenesis?", "seeds": [ "Abnormal spermatogenesis" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01283", "question": "What phenotype is associated with Linear IgA dermatosis?", "seeds": [ "Linear IgA dermatosis" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01284", "question": "What is associated with Immunodeficiency due to purine nucleoside phosphorylase deficiency?", "seeds": [ "Immunodeficiency due to purine nucleoside phosphorylase deficiency" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01285", "question": "What is associated with Anosmia?", "seeds": [ "Anosmia" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01286", "question": "What phenotype is associated with Argininosuccinic aciduria?", "seeds": [ "Argininosuccinic aciduria" ], "gold_answer": "Attention deficit hyperactivity disorder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01287", "question": "What phenotype is associated with Advanced sleep phase syndrome, familial, 1?", "seeds": [ "Advanced sleep phase syndrome, familial, 1" ], "gold_answer": "Depression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01288", "question": "What phenotype is associated with Yuan-Harel-Lupski syndrome?", "seeds": [ "Yuan-Harel-Lupski syndrome" ], "gold_answer": "Bicuspid aortic valve", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01289", "question": "What is associated with History of mastectomy?", "seeds": [ "History of mastectomy" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01290", "question": "What is associated with Hypoplastic ischiopubic ramus?", "seeds": [ "Hypoplastic ischiopubic ramus" ], "gold_answer": "Hypoplastic pubic bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01291", "question": "What is associated with Familial congenital mirror movements?", "seeds": [ "Familial congenital mirror movements" ], "gold_answer": "Aplasia/Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01292", "question": "What phenotype is associated with Galloway-Mowat syndrome 5?", "seeds": [ "Galloway-Mowat syndrome 5" ], "gold_answer": "Periventricular leukomalacia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01293", "question": "What is associated with Reduced platelet dense granules?", "seeds": [ "Reduced platelet dense granules" ], "gold_answer": "Abnormal dense granules", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01294", "question": "What is associated with Intellectual disability-alacrima-achalasia syndrome?", "seeds": [ "Intellectual disability-alacrima-achalasia syndrome" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01295", "question": "What is associated with Reduced bone mineral density?", "seeds": [ "Reduced bone mineral density" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01296", "question": "What is associated with 1-minute APGAR score of 3?", "seeds": [ "1-minute APGAR score of 3" ], "gold_answer": "Low APGAR score", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01297", "question": "What is associated with Coffin-Siris syndrome 4?", "seeds": [ "Coffin-Siris syndrome 4" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01298", "question": "What is associated with Pancreas divisum?", "seeds": [ "Pancreas divisum" ], "gold_answer": "Abnormal pancreas morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01299", "question": "What is associated with Elongated mitochondria?", "seeds": [ "Elongated mitochondria" ], "gold_answer": "Abnormal mitochondrial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01300", "question": "What is associated with Herpetiform corneal ulceration?", "seeds": [ "Herpetiform corneal ulceration" ], "gold_answer": "Corneal ulceration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01301", "question": "What is associated with Abnormal CSF neopterin concentration?", "seeds": [ "Abnormal CSF neopterin concentration" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01302", "question": "What phenotype is associated with Luscan-Lumish syndrome?", "seeds": [ "Luscan-Lumish syndrome" ], "gold_answer": "High anterior hairline", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01303", "question": "What is associated with Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities?", "seeds": [ "Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities" ], "gold_answer": "Abnormality of dental eruption", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01304", "question": "What phenotype is associated with Primary hyperoxaluria type 1?", "seeds": [ "Primary hyperoxaluria type 1" ], "gold_answer": "Calcinosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01305", "question": "What is associated with Charcot-Marie-Tooth disease type 2B2?", "seeds": [ "Charcot-Marie-Tooth disease type 2B2" ], "gold_answer": "PNKP", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01306", "question": "What is associated with Anorgasmia?", "seeds": [ "Anorgasmia" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01307", "question": "What is associated with Familial porphyria cutanea tarda?", "seeds": [ "Familial porphyria cutanea tarda" ], "gold_answer": "HFE", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "modifying_germline_mutation_in" } }, { "query_id": "orph_train_01308", "question": "What is associated with Bradylalia?", "seeds": [ "Bradylalia" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01309", "question": "What is associated with Non-restorative sleep?", "seeds": [ "Non-restorative sleep" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01310", "question": "What is associated with Focal head nodding automatism seizure?", "seeds": [ "Focal head nodding automatism seizure" ], "gold_answer": "Focal motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01311", "question": "What is associated with Corneal endothelial dystrophy and perceptive deafness?", "seeds": [ "Corneal endothelial dystrophy and perceptive deafness" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01312", "question": "What is associated with Reduced antigen-specific T cell proliferation?", "seeds": [ "Reduced antigen-specific T cell proliferation" ], "gold_answer": "Impaired antigen-specific response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01313", "question": "What is associated with Decreased circulating epinephrine concentration?", "seeds": [ "Decreased circulating epinephrine concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01314", "question": "What is associated with Camptodactyly 1?", "seeds": [ "Camptodactyly 1" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01315", "question": "What is associated with Cockayne syndrome, type B?", "seeds": [ "Cockayne syndrome, type B" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01316", "question": "What is associated with Schöpf-Schulz-Passarge syndrome?", "seeds": [ "Schöpf-Schulz-Passarge syndrome" ], "gold_answer": "Palmar hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01317", "question": "What is associated with Pulmonary tuberculosis?", "seeds": [ "Pulmonary tuberculosis" ], "gold_answer": "Opportunistic infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01318", "question": "What is associated with Reduced tissue fructose-1,6-bisphosphatase activity?", "seeds": [ "Reduced tissue fructose-1,6-bisphosphatase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01319", "question": "What is associated with Excessively quiet speech?", "seeds": [ "Excessively quiet speech" ], "gold_answer": "Abnormal speech volume", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01320", "question": "What is associated with Small thumb epiphysis?", "seeds": [ "Small thumb epiphysis" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01321", "question": "What is associated with Congenital malformation of the left heart?", "seeds": [ "Congenital malformation of the left heart" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01322", "question": "What is associated with Facial nerve compression?", "seeds": [ "Facial nerve compression" ], "gold_answer": "Abnormal cranial nerve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01323", "question": "What is associated with Fusiform aortic arch aneurysm?", "seeds": [ "Fusiform aortic arch aneurysm" ], "gold_answer": "Thoracic aortic aneurysm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01324", "question": "What is associated with Eiken syndrome?", "seeds": [ "Eiken syndrome" ], "gold_answer": "Abnormality of primary teeth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01325", "question": "What is associated with Abnormal coronary artery morphology?", "seeds": [ "Abnormal coronary artery morphology" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01326", "question": "What is associated with Peg-shaped maxillary lateral incisors?", "seeds": [ "Peg-shaped maxillary lateral incisors" ], "gold_answer": "Abnormal dental morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01327", "question": "What is associated with Moderate hypermetropia?", "seeds": [ "Moderate hypermetropia" ], "gold_answer": "Abnormality of refraction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01328", "question": "What is associated with Sleep disturbance?", "seeds": [ "Sleep disturbance" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01329", "question": "What is associated with Ileoileal intussusception?", "seeds": [ "Ileoileal intussusception" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01330", "question": "What is associated with Proximal spinal muscular atrophy type 1?", "seeds": [ "Proximal spinal muscular atrophy type 1" ], "gold_answer": "SMN1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01331", "question": "What is associated with Abnormal circulating gonadotropin concentration?", "seeds": [ "Abnormal circulating gonadotropin concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01332", "question": "What is associated with Mitochondrial complex II deficiency, nuclear type 2?", "seeds": [ "Mitochondrial complex II deficiency, nuclear type 2" ], "gold_answer": "Abnormal brain N-acetyl aspartate level by MRS", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01333", "question": "What phenotype is associated with Aprosencephaly and cerebellar dysgenesis?", "seeds": [ "Aprosencephaly and cerebellar dysgenesis" ], "gold_answer": "Aprosencephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01334", "question": "What is associated with Ultra-low vision?", "seeds": [ "Ultra-low vision" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01335", "question": "What is associated with Acromesomelic dysplasia, Maroteaux type?", "seeds": [ "Acromesomelic dysplasia, Maroteaux type" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01336", "question": "What is associated with Abnormal HDL2b concentration?", "seeds": [ "Abnormal HDL2b concentration" ], "gold_answer": "Abnormal HDL cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01337", "question": "What is associated with Hypoplasia of latissimus dorsi muscle?", "seeds": [ "Hypoplasia of latissimus dorsi muscle" ], "gold_answer": "Abnormality of the musculature of the thorax", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01338", "question": "What is associated with Abnormal neoplastic cell morphology?", "seeds": [ "Abnormal neoplastic cell morphology" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01339", "question": "What is associated with Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration?", "seeds": [ "Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01340", "question": "What is associated with Progressive cervical vertebral spine fusion?", "seeds": [ "Progressive cervical vertebral spine fusion" ], "gold_answer": "Vertebral fusion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01341", "question": "What phenotype is associated with Exostoses, multiple, type II?", "seeds": [ "Exostoses, multiple, type II" ], "gold_answer": "Madelung-like forearm deformities", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01342", "question": "What is associated with Hepatic calcification?", "seeds": [ "Hepatic calcification" ], "gold_answer": "Ectopic calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01343", "question": "What is associated with Abnormal size of the palpebral fissures?", "seeds": [ "Abnormal size of the palpebral fissures" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01344", "question": "What is associated with Focal cognitive seizure with hallucination?", "seeds": [ "Focal cognitive seizure with hallucination" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01345", "question": "What is associated with Ovarian mass?", "seeds": [ "Ovarian mass" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01346", "question": "What is associated with Abnormality of the epiphysis of the middle phalanx of the 3rd finger?", "seeds": [ "Abnormality of the epiphysis of the middle phalanx of the 3rd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01347", "question": "What is associated with Asymmetry of the breasts?", "seeds": [ "Asymmetry of the breasts" ], "gold_answer": "Abnormality of the breast", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01348", "question": "What phenotype is associated with Pulmonary hypertension, primary, 2?", "seeds": [ "Pulmonary hypertension, primary, 2" ], "gold_answer": "Increased pulmonary vascular resistance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01349", "question": "What is associated with Arteriosclerosis of small cerebral arteries?", "seeds": [ "Arteriosclerosis of small cerebral arteries" ], "gold_answer": "Abnormal cerebral artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01350", "question": "What is associated with Talipes?", "seeds": [ "Talipes" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01351", "question": "What phenotype is associated with Holoprosencephaly, semilobar, with craniosynostosis?", "seeds": [ "Holoprosencephaly, semilobar, with craniosynostosis" ], "gold_answer": "Lambdoidal craniosynostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01352", "question": "What is associated with Dilated cardiomyopathy?", "seeds": [ "Dilated cardiomyopathy" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01353", "question": "What is associated with Clostridium difficile colitis?", "seeds": [ "Clostridium difficile colitis" ], "gold_answer": "Unusual gastrointestinal infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01354", "question": "What is associated with Multicentric femoral head ossification?", "seeds": [ "Multicentric femoral head ossification" ], "gold_answer": "Abnormal enchondral ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01355", "question": "What is associated with Abnormal bronchoalveolar lavage fluid morphology?", "seeds": [ "Abnormal bronchoalveolar lavage fluid morphology" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01356", "question": "What phenotype is associated with RFT1-CDG?", "seeds": [ "RFT1-CDG" ], "gold_answer": "Abnormality of the posterior cranial fossa", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01357", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 71?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 71" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01358", "question": "What phenotype is associated with Leber congenital amaurosis 4?", "seeds": [ "Leber congenital amaurosis 4" ], "gold_answer": "Cone/cone-rod dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01359", "question": "What is associated with Abnormal light-adapted single flash electroretinogram?", "seeds": [ "Abnormal light-adapted single flash electroretinogram" ], "gold_answer": "Abnormal light-adapted electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01360", "question": "What is associated with Beta-cell dysfunction?", "seeds": [ "Beta-cell dysfunction" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01361", "question": "What is associated with Mastoiditis?", "seeds": [ "Mastoiditis" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01362", "question": "What is associated with Growth delay due to insulin-like growth factor I resistance?", "seeds": [ "Growth delay due to insulin-like growth factor I resistance" ], "gold_answer": "Abnormal sternum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01363", "question": "What is associated with Large vessel vasculitis?", "seeds": [ "Large vessel vasculitis" ], "gold_answer": "Vasculitis by anatomical site", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01364", "question": "What phenotype is associated with Anterior segment dysgenesis 6, multiple subtypes?", "seeds": [ "Anterior segment dysgenesis 6, multiple subtypes" ], "gold_answer": "Corneal opacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01365", "question": "What is associated with Say-Barber-Miller syndrome?", "seeds": [ "Say-Barber-Miller syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the mandible", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01366", "question": "What is associated with Reduced circulating interleukin 9 concentration?", "seeds": [ "Reduced circulating interleukin 9 concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01367", "question": "What is associated with Increased mean corpuscular volume?", "seeds": [ "Increased mean corpuscular volume" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01368", "question": "What is associated with Aplasia/Hypoplasia of the distal phalanx of the thumb?", "seeds": [ "Aplasia/Hypoplasia of the distal phalanx of the thumb" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01369", "question": "What phenotype is associated with Pierre Robin sequence with facial and digital anomalies?", "seeds": [ "Pierre Robin sequence with facial and digital anomalies" ], "gold_answer": "Hyperconvex nail", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01370", "question": "What phenotype is associated with Glaucoma 1, open angle, M?", "seeds": [ "Glaucoma 1, open angle, M" ], "gold_answer": "Constriction of peripheral visual field", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01371", "question": "What is associated with Unexplained fevers?", "seeds": [ "Unexplained fevers" ], "gold_answer": "Abnormality of temperature regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01372", "question": "What is associated with Impaired neutrophil bactericidal activity?", "seeds": [ "Impaired neutrophil bactericidal activity" ], "gold_answer": "Abnormal leukocyte physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01373", "question": "What is associated with Anti-cytomegalovirus antibody positivity?", "seeds": [ "Anti-cytomegalovirus antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01374", "question": "What is associated with Large earlobe?", "seeds": [ "Large earlobe" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01375", "question": "What is associated with Parotitis?", "seeds": [ "Parotitis" ], "gold_answer": "Abnormal parotid gland morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01376", "question": "What is associated with Childhood-onset Steinert myotonic dystrophy?", "seeds": [ "Childhood-onset Steinert myotonic dystrophy" ], "gold_answer": "DMPK", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01377", "question": "What is associated with Elbow extension contracture?", "seeds": [ "Elbow extension contracture" ], "gold_answer": "Limb joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01378", "question": "What is associated with Double aortic arch?", "seeds": [ "Double aortic arch" ], "gold_answer": "Abnormal aortic arch morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01379", "question": "What is associated with Hypotrichosis simplex?", "seeds": [ "Hypotrichosis simplex" ], "gold_answer": "Aplasia/Hypoplasia of the eyebrow", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01380", "question": "What is associated with Unilambdoid synostosis?", "seeds": [ "Unilambdoid synostosis" ], "gold_answer": "Lambdoidal craniosynostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01381", "question": "What is associated with Triggered by smoking?", "seeds": [ "Triggered by smoking" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01382", "question": "What is associated with Zechi-Ceide syndrome?", "seeds": [ "Zechi-Ceide syndrome" ], "gold_answer": "Tooth agenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01383", "question": "What is associated with Nodular goiter?", "seeds": [ "Nodular goiter" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01384", "question": "What is associated with Synostosis involving bones of the lower limbs?", "seeds": [ "Synostosis involving bones of the lower limbs" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01385", "question": "What is associated with Absent vertebra?", "seeds": [ "Absent vertebra" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01386", "question": "What is associated with Cutis laxa, autosomal recessive, type IIE?", "seeds": [ "Cutis laxa, autosomal recessive, type IIE" ], "gold_answer": "Abnormality of the palmar creases", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01387", "question": "What phenotype is associated with Familial exudative vitreoretinopathy?", "seeds": [ "Familial exudative vitreoretinopathy" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01388", "question": "What is associated with Metaphyseal chondrodysplasia?", "seeds": [ "Metaphyseal chondrodysplasia" ], "gold_answer": "Metaphyseal dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01389", "question": "What phenotype is associated with Carey-Fineman-Ziter syndrome 2?", "seeds": [ "Carey-Fineman-Ziter syndrome 2" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01390", "question": "What is associated with Spondyloepimetaphyseal dysplasia, aggrecan type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, aggrecan type" ], "gold_answer": "Abnormal nasal bridge morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01391", "question": "What phenotype is associated with Myofibrillar myopathy 11?", "seeds": [ "Myofibrillar myopathy 11" ], "gold_answer": "Underdeveloped supraorbital ridges", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01392", "question": "What is associated with Focal aware cognitive seizure with neglect?", "seeds": [ "Focal aware cognitive seizure with neglect" ], "gold_answer": "Focal cognitive seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01393", "question": "What is associated with Neurocutaneous melanocytosis?", "seeds": [ "Neurocutaneous melanocytosis" ], "gold_answer": "Abnormal chorioretinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01394", "question": "What phenotype is associated with Faciodigitogenital syndrome, autosomal recessive?", "seeds": [ "Faciodigitogenital syndrome, autosomal recessive" ], "gold_answer": "Attention deficit hyperactivity disorder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01395", "question": "What is associated with Ichthyosis-Cheek-Eyebrow syndrome?", "seeds": [ "Ichthyosis-Cheek-Eyebrow syndrome" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01396", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 3, with or without situs inversus?", "seeds": [ "Ciliary dyskinesia, primary, 3, with or without situs inversus" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01397", "question": "What is associated with Focal aware cognitive seizure with dyscalculia/acalculia?", "seeds": [ "Focal aware cognitive seizure with dyscalculia/acalculia" ], "gold_answer": "Focal aware seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01398", "question": "What is associated with Hypoplastic femurs and pelvis?", "seeds": [ "Hypoplastic femurs and pelvis" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01399", "question": "What is associated with Ciliary dyskinesia, primary, 14?", "seeds": [ "Ciliary dyskinesia, primary, 14" ], "gold_answer": "CFAP53", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01400", "question": "What is associated with Ivory epiphysis of the proximal phalanx of the 5th finger?", "seeds": [ "Ivory epiphysis of the proximal phalanx of the 5th finger" ], "gold_answer": "Sclerosis of 5th finger phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01401", "question": "What is associated with Abnormality of the urethra?", "seeds": [ "Abnormality of the urethra" ], "gold_answer": "Abnormality of the urinary system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01402", "question": "What is associated with Recurrent viral pneumonia?", "seeds": [ "Recurrent viral pneumonia" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01403", "question": "What is associated with Imprinted?", "seeds": [ "Imprinted" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01404", "question": "What is associated with Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism?", "seeds": [ "Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism" ], "gold_answer": "Decreased circulating gonadotropin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01405", "question": "What is associated with Lymphedema, primary, with myelodysplasia?", "seeds": [ "Lymphedema, primary, with myelodysplasia" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01406", "question": "What is associated with Renal arteriole intima/media crystal accumulation?", "seeds": [ "Renal arteriole intima/media crystal accumulation" ], "gold_answer": "Abnormal renal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01407", "question": "What is associated with Medially sloping radial epiphyses?", "seeds": [ "Medially sloping radial epiphyses" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01408", "question": "What is associated with Chromosome 15q26-qter deletion syndrome?", "seeds": [ "Chromosome 15q26-qter deletion syndrome" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01409", "question": "What is associated with Upper limb muscle hypoplasia?", "seeds": [ "Upper limb muscle hypoplasia" ], "gold_answer": "Aplasia/Hypoplasia involving the musculature of the upper limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01410", "question": "What is associated with Partial duplication of eyebrows?", "seeds": [ "Partial duplication of eyebrows" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01411", "question": "What is associated with Lissencephaly?", "seeds": [ "Lissencephaly" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01412", "question": "What phenotype is associated with Hyperlipoproteinemia, type V?", "seeds": [ "Hyperlipoproteinemia, type V" ], "gold_answer": "Increased circulating chylomicron concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01413", "question": "What is associated with Autonomic-voluntary dissociation of facial movements?", "seeds": [ "Autonomic-voluntary dissociation of facial movements" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01414", "question": "What is associated with Hypogonadotropic hypogonadism?", "seeds": [ "Hypogonadotropic hypogonadism" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01415", "question": "What is associated with Cowden syndrome 7?", "seeds": [ "Cowden syndrome 7" ], "gold_answer": "Intestinal polyp", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01416", "question": "What is associated with Hermansky-Pudlak syndrome 6?", "seeds": [ "Hermansky-Pudlak syndrome 6" ], "gold_answer": "Abnormal pharynx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01417", "question": "What is associated with Restless legs syndrome, susceptibility to, 1?", "seeds": [ "Restless legs syndrome, susceptibility to, 1" ], "gold_answer": "Akathisia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01418", "question": "What is associated with Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities?", "seeds": [ "Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01419", "question": "What phenotype is associated with Hypercholanemia, familial?", "seeds": [ "Hypercholanemia, familial" ], "gold_answer": "Fat malabsorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01420", "question": "What is associated with Fractured distal epiphysis of distal phalanx of manual digit 1?", "seeds": [ "Fractured distal epiphysis of distal phalanx of manual digit 1" ], "gold_answer": "Fragmentation of the epiphyses of the distal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01421", "question": "What is associated with Hemihypertrophy of lower limb?", "seeds": [ "Hemihypertrophy of lower limb" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01422", "question": "What is associated with Glycogen storage disease due to phosphoglycerate kinase 1 deficiency?", "seeds": [ "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01423", "question": "What is associated with Ring fibers?", "seeds": [ "Ring fibers" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01424", "question": "What is associated with Palmar warts?", "seeds": [ "Palmar warts" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01425", "question": "What is associated with Abnormal corticospinal tract morphology?", "seeds": [ "Abnormal corticospinal tract morphology" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01426", "question": "What is associated with Triggered by fasting?", "seeds": [ "Triggered by fasting" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01427", "question": "What is associated with Panhypopituitarism?", "seeds": [ "Panhypopituitarism" ], "gold_answer": "Anterior hypopituitarism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01428", "question": "What is associated with Glioblastoma?", "seeds": [ "Glioblastoma" ], "gold_answer": "Neuroepithelial neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01429", "question": "What is associated with Complete duplication of the distal phalanx of the 4th finger?", "seeds": [ "Complete duplication of the distal phalanx of the 4th finger" ], "gold_answer": "Complete duplication of the distal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01430", "question": "What is associated with Intellectual developmental disorder with or without epilepsy or cerebellar ataxia?", "seeds": [ "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia" ], "gold_answer": "Personality disorder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01431", "question": "What is associated with Episodic hyperhidrosis?", "seeds": [ "Episodic hyperhidrosis" ], "gold_answer": "Hypohidrosis or hyperhidrosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01432", "question": "What is associated with Frontofacionasal dysplasia?", "seeds": [ "Frontofacionasal dysplasia" ], "gold_answer": "Abnormal periauricular region morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01433", "question": "What is associated with Lymph-node hemophagocytosis?", "seeds": [ "Lymph-node hemophagocytosis" ], "gold_answer": "Hemophagocytosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01434", "question": "What is associated with Abnormal parotid gland morphology?", "seeds": [ "Abnormal parotid gland morphology" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01435", "question": "What is associated with Spinal dysraphism?", "seeds": [ "Spinal dysraphism" ], "gold_answer": "Neural tube defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01436", "question": "What is associated with Increased circulating N-acetylaspartic acid concentration?", "seeds": [ "Increased circulating N-acetylaspartic acid concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01437", "question": "What phenotype is associated with Arterial calcification, generalized, of infancy, 1?", "seeds": [ "Arterial calcification, generalized, of infancy, 1" ], "gold_answer": "Myocardial infarction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01438", "question": "What phenotype is associated with Mitochondrial pyruvate carrier deficiency?", "seeds": [ "Mitochondrial pyruvate carrier deficiency" ], "gold_answer": "Progressive microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01439", "question": "What phenotype is associated with Pseudohypoaldosteronism, type IIC?", "seeds": [ "Pseudohypoaldosteronism, type IIC" ], "gold_answer": "Metabolic acidosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01440", "question": "What is associated with Methylmalonic aciduria and homocystinuria, cblC type?", "seeds": [ "Methylmalonic aciduria and homocystinuria, cblC type" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01441", "question": "What is associated with Delayed ability to stand?", "seeds": [ "Delayed ability to stand" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01442", "question": "What is associated with Rectourethral fistula?", "seeds": [ "Rectourethral fistula" ], "gold_answer": "Rectal fistula", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01443", "question": "What is associated with EEG with central sharp waves?", "seeds": [ "EEG with central sharp waves" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01444", "question": "What phenotype is associated with Hypoglossia with situs inversus?", "seeds": [ "Hypoglossia with situs inversus" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01445", "question": "What is associated with Polyneuropathy?", "seeds": [ "Polyneuropathy" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01446", "question": "What phenotype is associated with Pseudoxanthomatous diffuse cutaneous mastocytosis?", "seeds": [ "Pseudoxanthomatous diffuse cutaneous mastocytosis" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01447", "question": "What is associated with Central heterochromia?", "seeds": [ "Central heterochromia" ], "gold_answer": "Abnormal iris pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01448", "question": "What is associated with Congenital laryngeal stridor?", "seeds": [ "Congenital laryngeal stridor" ], "gold_answer": "Stridor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01449", "question": "What is associated with Narrow forehead?", "seeds": [ "Narrow forehead" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01450", "question": "What is associated with Alzheimer disease-4?", "seeds": [ "Alzheimer disease-4" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01451", "question": "What is associated with Anti-FGFR3 antibody positivity?", "seeds": [ "Anti-FGFR3 antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01452", "question": "What is associated with Periventricular cysts?", "seeds": [ "Periventricular cysts" ], "gold_answer": "Abnormal periventricular white matter morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01453", "question": "What is associated with Absent sternal ossification?", "seeds": [ "Absent sternal ossification" ], "gold_answer": "Aplasia/Hypoplasia of the sternum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01454", "question": "What is associated with Fixed head retroflexion?", "seeds": [ "Fixed head retroflexion" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01455", "question": "What is associated with Anorectal stricture?", "seeds": [ "Anorectal stricture" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01456", "question": "What is associated with Popliteal pterygium syndrome?", "seeds": [ "Popliteal pterygium syndrome" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01457", "question": "What is associated with Dilatation of the ductus arteriosus?", "seeds": [ "Dilatation of the ductus arteriosus" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01458", "question": "What is associated with Hemoglobin Lepore-beta-thalassemia intermedia?", "seeds": [ "Hemoglobin Lepore-beta-thalassemia intermedia" ], "gold_answer": "HBB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_01459", "question": "What is associated with Subependymal nodular heterotopia?", "seeds": [ "Subependymal nodular heterotopia" ], "gold_answer": "Frontoethmoidal encephalocele", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01460", "question": "What phenotype is associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome 4?", "seeds": [ "Megacystis-microcolon-intestinal hypoperistalsis syndrome 4" ], "gold_answer": "Megacystis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01461", "question": "What is associated with Infantile epileptic spasms syndrome?", "seeds": [ "Infantile epileptic spasms syndrome" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01462", "question": "What is associated with Curved 4th toe phalanx?", "seeds": [ "Curved 4th toe phalanx" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01463", "question": "What is associated with Abnormal blood chloride concentration?", "seeds": [ "Abnormal blood chloride concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01464", "question": "What is associated with Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive?", "seeds": [ "Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01465", "question": "What phenotype is associated with Osteopetrosis, autosomal dominant 1?", "seeds": [ "Osteopetrosis, autosomal dominant 1" ], "gold_answer": "Elevated serum acid phosphatase", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01466", "question": "What is associated with Combined oxidative phosphorylation deficiency 5?", "seeds": [ "Combined oxidative phosphorylation deficiency 5" ], "gold_answer": "Abnormal neck morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01467", "question": "What is associated with Pulmonary lymphangiectasia?", "seeds": [ "Pulmonary lymphangiectasia" ], "gold_answer": "Abnormal pulmonary lymphatics", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01468", "question": "What is associated with Allesthesia?", "seeds": [ "Allesthesia" ], "gold_answer": "Disturbed sensory perception", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01469", "question": "What is associated with Diaphragmatic weakness?", "seeds": [ "Diaphragmatic weakness" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01470", "question": "What is associated with Iris transillumination defect?", "seeds": [ "Iris transillumination defect" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01471", "question": "What is associated with PPARG-associated congenital generalized lipodystrophy?", "seeds": [ "PPARG-associated congenital generalized lipodystrophy" ], "gold_answer": "PPARG", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01472", "question": "What is associated with Deafness, autosomal recessive 1A?", "seeds": [ "Deafness, autosomal recessive 1A" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01473", "question": "What is associated with Decreased muscle glycogen content?", "seeds": [ "Decreased muscle glycogen content" ], "gold_answer": "Abnormal muscle glycogen content", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01474", "question": "What phenotype is associated with Cartilage-hair hypoplasia?", "seeds": [ "Cartilage-hair hypoplasia" ], "gold_answer": "Malabsorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01475", "question": "What is associated with Anhydramnios?", "seeds": [ "Anhydramnios" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01476", "question": "What is associated with Substantially elevated circulating ethanol concentration?", "seeds": [ "Substantially elevated circulating ethanol concentration" ], "gold_answer": "Blood xenobiotic", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01477", "question": "What is associated with Hypophosphatemic rickets?", "seeds": [ "Hypophosphatemic rickets" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01478", "question": "What is associated with Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency?", "seeds": [ "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" ], "gold_answer": "MCM4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01479", "question": "What is associated with Ocular anomalies-axonal neuropathy-developmental delay syndrome?", "seeds": [ "Ocular anomalies-axonal neuropathy-developmental delay syndrome" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01480", "question": "What is associated with Ceroid lipofuscinosis, neuronal, 3?", "seeds": [ "Ceroid lipofuscinosis, neuronal, 3" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01481", "question": "What phenotype is associated with PAGOD syndrome?", "seeds": [ "PAGOD syndrome" ], "gold_answer": "Restrictive ventilatory defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01482", "question": "What is associated with Reduced phosphoserine phosphatase activity in cultured fibroblasts?", "seeds": [ "Reduced phosphoserine phosphatase activity in cultured fibroblasts" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01483", "question": "What is associated with Lymphangiectasia, pulmonary, congenital?", "seeds": [ "Lymphangiectasia, pulmonary, congenital" ], "gold_answer": "Hydrops fetalis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01484", "question": "What is associated with Idiopathic steroid-sensitive nephrotic syndrome?", "seeds": [ "Idiopathic steroid-sensitive nephrotic syndrome" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01485", "question": "What is associated with Abnormal microglia morphology?", "seeds": [ "Abnormal microglia morphology" ], "gold_answer": "Abnormal glial cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01486", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 20?", "seeds": [ "Intellectual developmental disorder, X-linked 20" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01487", "question": "What is associated with Exacerbated by pronation?", "seeds": [ "Exacerbated by pronation" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01488", "question": "What is associated with Thakker-Donnai syndrome?", "seeds": [ "Thakker-Donnai syndrome" ], "gold_answer": "Abnormal renal pelvis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01489", "question": "What phenotype is associated with Kaposi sarcoma, susceptibility to?", "seeds": [ "Kaposi sarcoma, susceptibility to" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01490", "question": "What is associated with Contracture of the distal interphalangeal joint of the fingers?", "seeds": [ "Contracture of the distal interphalangeal joint of the fingers" ], "gold_answer": "Finger joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01491", "question": "What is associated with Ovarian dermoid cyst?", "seeds": [ "Ovarian dermoid cyst" ], "gold_answer": "Ovarian teratoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01492", "question": "What phenotype is associated with Frontotemporal dementia and/or amytrophic lateral sclerosis 7?", "seeds": [ "Frontotemporal dementia and/or amytrophic lateral sclerosis 7" ], "gold_answer": "Mutism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01493", "question": "What phenotype is associated with Hypomelanosis of Ito?", "seeds": [ "Hypomelanosis of Ito" ], "gold_answer": "Iris coloboma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01494", "question": "What is associated with Thickened cortex of the clavicle?", "seeds": [ "Thickened cortex of the clavicle" ], "gold_answer": "Abnormal clavicle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01495", "question": "What is associated with Immunodeficiency 114, folate-responsive?", "seeds": [ "Immunodeficiency 114, folate-responsive" ], "gold_answer": "Eczematoid dermatitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01496", "question": "What is associated with Aplasia/Hypoplasia involving the musculature of the upper limbs?", "seeds": [ "Aplasia/Hypoplasia involving the musculature of the upper limbs" ], "gold_answer": "Aplasia/Hypoplasia involving the skeletal musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01497", "question": "What is associated with Autoinflammation and autoimmunity, systemic, with immune dysregulation 2?", "seeds": [ "Autoinflammation and autoimmunity, systemic, with immune dysregulation 2" ], "gold_answer": "Abnormal blood monovalent inorganic cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01498", "question": "What phenotype is associated with Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs?", "seeds": [ "Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs" ], "gold_answer": "Cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01499", "question": "What phenotype is associated with Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency?", "seeds": [ "Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency" ], "gold_answer": "Increased circulating androstenedione concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01500", "question": "What is associated with Visual field defect?", "seeds": [ "Visual field defect" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01501", "question": "What is associated with Periodic limb movements of sleep?", "seeds": [ "Periodic limb movements of sleep" ], "gold_answer": "Parasomnia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01502", "question": "What is associated with Abnormality of the epiphysis of the distal phalanx of the 4th toe?", "seeds": [ "Abnormality of the epiphysis of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormal fourth toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01503", "question": "What phenotype is associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" ], "gold_answer": "Dandy-Walker malformation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01504", "question": "What is associated with Salla disease?", "seeds": [ "Salla disease" ], "gold_answer": "Exodeviation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01505", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01506", "question": "What phenotype is associated with Hypercholesterolemia, familial, 2?", "seeds": [ "Hypercholesterolemia, familial, 2" ], "gold_answer": "Xanthelasma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01507", "question": "What is associated with Renal tubular epithelial necrosis?", "seeds": [ "Renal tubular epithelial necrosis" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01508", "question": "What is associated with Vascular dilatation?", "seeds": [ "Vascular dilatation" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01509", "question": "What is associated with Compensatory head tilt to the left shoulder?", "seeds": [ "Compensatory head tilt to the left shoulder" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01510", "question": "What is associated with Absent muscle fiber delta sarcoglycan?", "seeds": [ "Absent muscle fiber delta sarcoglycan" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01511", "question": "What is associated with Cyanide-induced parkinsonism-dystonia?", "seeds": [ "Cyanide-induced parkinsonism-dystonia" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01512", "question": "What is associated with Abnormal geniohyoid muscle morphology?", "seeds": [ "Abnormal geniohyoid muscle morphology" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01513", "question": "What is associated with Atrophodermia vermiculata?", "seeds": [ "Atrophodermia vermiculata" ], "gold_answer": "Abnormality of facial soft tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01514", "question": "What phenotype is associated with Müllerian duct anomalies-limb anomalies syndrome?", "seeds": [ "Müllerian duct anomalies-limb anomalies syndrome" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01515", "question": "What is associated with Pancolitis?", "seeds": [ "Pancolitis" ], "gold_answer": "Inflammation of the large intestine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01516", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2D?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2D" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01517", "question": "What is associated with Galactose epimerase deficiency?", "seeds": [ "Galactose epimerase deficiency" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01518", "question": "What is associated with Leukodystrophy, childhood-onset, remitting?", "seeds": [ "Leukodystrophy, childhood-onset, remitting" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01519", "question": "What is associated with Increased CD21low B cell proportion?", "seeds": [ "Increased CD21low B cell proportion" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01520", "question": "What is associated with Lumbar scoliosis?", "seeds": [ "Lumbar scoliosis" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01521", "question": "What is associated with Occupational disability?", "seeds": [ "Occupational disability" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01522", "question": "What is associated with Glomerular basement membrane subendothelial remodeling?", "seeds": [ "Glomerular basement membrane subendothelial remodeling" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01523", "question": "What is associated with Frontal venous angioma?", "seeds": [ "Frontal venous angioma" ], "gold_answer": "Cerebral venous angioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01524", "question": "What is associated with Nephrogenic diabetes insipidus?", "seeds": [ "Nephrogenic diabetes insipidus" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01525", "question": "What phenotype is associated with Nablus mask-like facial syndrome?", "seeds": [ "Nablus mask-like facial syndrome" ], "gold_answer": "Narrow forehead", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01526", "question": "What phenotype is associated with Autosomal recessive hypohidrotic ectodermal dysplasia?", "seeds": [ "Autosomal recessive hypohidrotic ectodermal dysplasia" ], "gold_answer": "Premature loss of primary teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01527", "question": "What is associated with Femoral nerve distribution?", "seeds": [ "Femoral nerve distribution" ], "gold_answer": "Localized", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01528", "question": "What is associated with Facial palsy, familial recurrent peripheral?", "seeds": [ "Facial palsy, familial recurrent peripheral" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01529", "question": "What is associated with Reduced co-speech gestures?", "seeds": [ "Reduced co-speech gestures" ], "gold_answer": "Abnormal cognitive process", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01530", "question": "What is associated with Pancreatic squamous cell carcinoma?", "seeds": [ "Pancreatic squamous cell carcinoma" ], "gold_answer": "Neoplasm of the pancreas", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01531", "question": "What is associated with Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone?", "seeds": [ "Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01532", "question": "What is associated with Reduced production of gestures?", "seeds": [ "Reduced production of gestures" ], "gold_answer": "Abnormal nonverbal communicative behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01533", "question": "What is associated with Recent history of caustic substance ingestion?", "seeds": [ "Recent history of caustic substance ingestion" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01534", "question": "What is associated with Muscle filaminopathy?", "seeds": [ "Muscle filaminopathy" ], "gold_answer": "Abnormal circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01535", "question": "What is associated with Focal impaired awareness manual automatism seizure?", "seeds": [ "Focal impaired awareness manual automatism seizure" ], "gold_answer": "Focal manual automatism seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01536", "question": "What phenotype is associated with Arterial tortuosity syndrome?", "seeds": [ "Arterial tortuosity syndrome" ], "gold_answer": "Pulmonary artery stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01537", "question": "What phenotype is associated with Lissencephaly due to LIS1 mutation?", "seeds": [ "Lissencephaly due to LIS1 mutation" ], "gold_answer": "Atonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01538", "question": "What is associated with Pyridoxine-responsive sideroblastic anemia?", "seeds": [ "Pyridoxine-responsive sideroblastic anemia" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01539", "question": "What is associated with Bursa fluid crystals?", "seeds": [ "Bursa fluid crystals" ], "gold_answer": "Abnormal synovial bursa morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01540", "question": "What is associated with Coronary artery fistula?", "seeds": [ "Coronary artery fistula" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01541", "question": "What phenotype is associated with Fibromatosis, gingival, with progressive deafness?", "seeds": [ "Fibromatosis, gingival, with progressive deafness" ], "gold_answer": "Gingival fibromatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01542", "question": "What is associated with Acrofacial dysostosis 1, Nager type?", "seeds": [ "Acrofacial dysostosis 1, Nager type" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01543", "question": "What is associated with Hand paresthesia?", "seeds": [ "Hand paresthesia" ], "gold_answer": "Paresthesia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01544", "question": "What is associated with Broad neck?", "seeds": [ "Broad neck" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01545", "question": "What is associated with Focal sensory seizure?", "seeds": [ "Focal sensory seizure" ], "gold_answer": "Non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01546", "question": "What is associated with Eschar?", "seeds": [ "Eschar" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01547", "question": "What is associated with Splenic calcification?", "seeds": [ "Splenic calcification" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01548", "question": "What is associated with Red skin pigment anomaly of new guinea?", "seeds": [ "Red skin pigment anomaly of new guinea" ], "gold_answer": "Sensory hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01549", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)?", "seeds": [ "Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)" ], "gold_answer": "Generalized clonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01550", "question": "What is associated with Infantile spasms?", "seeds": [ "Infantile spasms" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01551", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 65?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 65" ], "gold_answer": "Thin eyebrow", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01552", "question": "What is associated with Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration?", "seeds": [ "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" ], "gold_answer": "Long-tract sign", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01553", "question": "What is associated with Abnormal CSF albumin concentration?", "seeds": [ "Abnormal CSF albumin concentration" ], "gold_answer": "Abnormal CSF protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01554", "question": "What is associated with Chondromyxoid fibroma?", "seeds": [ "Chondromyxoid fibroma" ], "gold_answer": "GRM1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_01555", "question": "What phenotype is associated with Silver-Russell syndrome due to 11p15 microduplication?", "seeds": [ "Silver-Russell syndrome due to 11p15 microduplication" ], "gold_answer": "Intrauterine growth retardation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01556", "question": "What is associated with Hypobetalipoproteinemia, familial, 1?", "seeds": [ "Hypobetalipoproteinemia, familial, 1" ], "gold_answer": "Elevated circulating hepatic transaminase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01557", "question": "What is associated with Positive Neisseria gonorrhoeae urine nucleic acid test?", "seeds": [ "Positive Neisseria gonorrhoeae urine nucleic acid test" ], "gold_answer": "Positive urine infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01558", "question": "What is associated with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2?", "seeds": [ "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01559", "question": "What is associated with Abnormality of von Willebrand factor?", "seeds": [ "Abnormality of von Willebrand factor" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01560", "question": "What is associated with Severe lactic acidosis?", "seeds": [ "Severe lactic acidosis" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01561", "question": "What phenotype is associated with Aprosencephaly syndrome?", "seeds": [ "Aprosencephaly syndrome" ], "gold_answer": "Spina bifida", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01562", "question": "What is associated with Endocardial fibroelastosis?", "seeds": [ "Endocardial fibroelastosis" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01563", "question": "What phenotype is associated with Congenital tricuspid valve dysplasia?", "seeds": [ "Congenital tricuspid valve dysplasia" ], "gold_answer": "Tricuspid regurgitation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01564", "question": "What phenotype is associated with Asthma, susceptibility to?", "seeds": [ "Asthma, susceptibility to" ], "gold_answer": "Asthma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01565", "question": "What is associated with Immunodeficiency due to a classical component pathway complement deficiency?", "seeds": [ "Immunodeficiency due to a classical component pathway complement deficiency" ], "gold_answer": "C2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01566", "question": "What is associated with Decreased pre-bronchodilator forced expiratory flow 25-75%?", "seeds": [ "Decreased pre-bronchodilator forced expiratory flow 25-75%" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01567", "question": "What is associated with Aplasia/hypoplasia of the proximal phalanx of the 5th toe?", "seeds": [ "Aplasia/hypoplasia of the proximal phalanx of the 5th toe" ], "gold_answer": "Aplasia/Hypoplasia of toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01568", "question": "What is associated with Panacinar emphysema?", "seeds": [ "Panacinar emphysema" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01569", "question": "What is associated with Immunodeficiency 54?", "seeds": [ "Immunodeficiency 54" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01570", "question": "What is associated with Macular drusen?", "seeds": [ "Macular drusen" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01571", "question": "What phenotype is associated with Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities?", "seeds": [ "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities" ], "gold_answer": "Short neck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01572", "question": "What phenotype is associated with Tangier disease?", "seeds": [ "Tangier disease" ], "gold_answer": "Coronary artery atherosclerosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01573", "question": "What is associated with Vasovagal syncope?", "seeds": [ "Vasovagal syncope" ], "gold_answer": "Loss of consciousness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01574", "question": "What is associated with Thin toenail?", "seeds": [ "Thin toenail" ], "gold_answer": "Abnormal toenail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01575", "question": "What is associated with Autoamputation?", "seeds": [ "Autoamputation" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01576", "question": "What is associated with Abnormal glycosidase enzyme activity?", "seeds": [ "Abnormal glycosidase enzyme activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01577", "question": "What is associated with Hyperphosphatasia with impaired intellectual development syndrome 3?", "seeds": [ "Hyperphosphatasia with impaired intellectual development syndrome 3" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01578", "question": "What is associated with Cerebrooculofacioskeletal syndrome 3?", "seeds": [ "Cerebrooculofacioskeletal syndrome 3" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01579", "question": "What phenotype is associated with Cardiomyopathy, familial hypertrophic, 28?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 28" ], "gold_answer": "Systolic anterior motion of the mitral valve", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01580", "question": "What is associated with Buttock pain?", "seeds": [ "Buttock pain" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01581", "question": "What is associated with Thrombophilia due to decreased release of tissue plasminogen?", "seeds": [ "Thrombophilia due to decreased release of tissue plasminogen" ], "gold_answer": "Deep venous thrombosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01582", "question": "What is associated with Abnormal corticospinal tract morphology?", "seeds": [ "Abnormal corticospinal tract morphology" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01583", "question": "What is associated with Postaxial polydactyly type A?", "seeds": [ "Postaxial polydactyly type A" ], "gold_answer": "Postaxial polydactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01584", "question": "What phenotype is associated with HYPERTENSION, DIASTOLIC, RESISTANCE TO?", "seeds": [ "HYPERTENSION, DIASTOLIC, RESISTANCE TO" ], "gold_answer": "Elevated diastolic blood pressure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01585", "question": "What is associated with Pearson syndrome?", "seeds": [ "Pearson syndrome" ], "gold_answer": "Glucose intolerance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01586", "question": "What phenotype is associated with Yellow nail syndrome?", "seeds": [ "Yellow nail syndrome" ], "gold_answer": "Yellow nails", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01587", "question": "What is associated with Cutaneous atresia of the external auditory canal?", "seeds": [ "Cutaneous atresia of the external auditory canal" ], "gold_answer": "Atresia of the external auditory canal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01588", "question": "What is associated with Cystic echinococcosis?", "seeds": [ "Cystic echinococcosis" ], "gold_answer": "Abnormal circulating bilirubin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01589", "question": "What is associated with Bone arteriovenous malformation?", "seeds": [ "Bone arteriovenous malformation" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01590", "question": "What is associated with Abnormal earlobe morphology?", "seeds": [ "Abnormal earlobe morphology" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01591", "question": "What is associated with Ichthyosis, congenital, autosomal recessive 10?", "seeds": [ "Ichthyosis, congenital, autosomal recessive 10" ], "gold_answer": "Palmar hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01592", "question": "What phenotype is associated with Neurodegeneration with brain iron accumulation 3?", "seeds": [ "Neurodegeneration with brain iron accumulation 3" ], "gold_answer": "Micrographia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01593", "question": "What is associated with Dry hair?", "seeds": [ "Dry hair" ], "gold_answer": "Abnormality of hair texture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01594", "question": "What is associated with Rickets?", "seeds": [ "Rickets" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01595", "question": "What is associated with Morimoto-Ryu-Malicdan neuromuscular syndrome?", "seeds": [ "Morimoto-Ryu-Malicdan neuromuscular syndrome" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01596", "question": "What is associated with Decreased circulating complement factor I concentration?", "seeds": [ "Decreased circulating complement factor I concentration" ], "gold_answer": "Reduced circulating complement concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01597", "question": "What is associated with Staring gaze?", "seeds": [ "Staring gaze" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01598", "question": "What is associated with Echogenic fetal bowel?", "seeds": [ "Echogenic fetal bowel" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01599", "question": "What is associated with Anonychia congenita totalis?", "seeds": [ "Anonychia congenita totalis" ], "gold_answer": "RSPO4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01600", "question": "What is associated with Precocious atherosclerosis?", "seeds": [ "Precocious atherosclerosis" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01601", "question": "What is associated with Abnormal renal tubular resorption?", "seeds": [ "Abnormal renal tubular resorption" ], "gold_answer": "Renal tubular dysfunction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01602", "question": "What is associated with Abnormality of Krebs cycle metabolism?", "seeds": [ "Abnormality of Krebs cycle metabolism" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01603", "question": "What is associated with Flared, irregular rib ends?", "seeds": [ "Flared, irregular rib ends" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01604", "question": "What is associated with Charge-Like syndrome, X-linked?", "seeds": [ "Charge-Like syndrome, X-linked" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01605", "question": "What is associated with Small epiphysis of the middle phalanx of the 3rd finger?", "seeds": [ "Small epiphysis of the middle phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the middle phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01606", "question": "What is associated with Positive Blastomyces dermatitidis sputum fungal stain?", "seeds": [ "Positive Blastomyces dermatitidis sputum fungal stain" ], "gold_answer": "Positive respiratory tract infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01607", "question": "What is associated with Cataract-microcornea syndrome?", "seeds": [ "Cataract-microcornea syndrome" ], "gold_answer": "Abnormality of refraction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01608", "question": "What phenotype is associated with Joubert syndrome with ocular defect?", "seeds": [ "Joubert syndrome with ocular defect" ], "gold_answer": "Webbed neck", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01609", "question": "What is associated with Duplication of the middle phalanx of the 5th toe?", "seeds": [ "Duplication of the middle phalanx of the 5th toe" ], "gold_answer": "Abnormality of the middle phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01610", "question": "What is associated with Anterior open-bite malocclusion?", "seeds": [ "Anterior open-bite malocclusion" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01611", "question": "What is associated with Abdominal pain?", "seeds": [ "Abdominal pain" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01612", "question": "What is associated with Prostaglandin E1 exposure?", "seeds": [ "Prostaglandin E1 exposure" ], "gold_answer": "Medication history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01613", "question": "What is associated with Ameliorated by exposure to medication?", "seeds": [ "Ameliorated by exposure to medication" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01614", "question": "What is associated with Hypovalinemia?", "seeds": [ "Hypovalinemia" ], "gold_answer": "Abnormal circulating branched chain amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01615", "question": "What is associated with Angiocentric glioma?", "seeds": [ "Angiocentric glioma" ], "gold_answer": "MYB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_01616", "question": "What is associated with Reduced N-acetylgalactosamine-6-sulfatase in cultured fibroblasts?", "seeds": [ "Reduced N-acetylgalactosamine-6-sulfatase in cultured fibroblasts" ], "gold_answer": "Abnormal enzyme activity in cultured fibroblasts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01617", "question": "What is associated with Renal papillary necrosis?", "seeds": [ "Renal papillary necrosis" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01618", "question": "What is associated with Triggered by infection?", "seeds": [ "Triggered by infection" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01619", "question": "What phenotype is associated with Nievergelt syndrome?", "seeds": [ "Nievergelt syndrome" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01620", "question": "What phenotype is associated with Combined oxidative phosphorylation deficiency 37?", "seeds": [ "Combined oxidative phosphorylation deficiency 37" ], "gold_answer": "Chorioretinal hyperpigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01621", "question": "What is associated with Intercostal muscle weakness?", "seeds": [ "Intercostal muscle weakness" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01622", "question": "What is associated with Pyloric atresia?", "seeds": [ "Pyloric atresia" ], "gold_answer": "Abnormality of the amniotic fluid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01623", "question": "What is associated with Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism?", "seeds": [ "Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" ], "gold_answer": "Conical incisor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01624", "question": "What is associated with Polycystic liver disease 3 with or without kidney cysts?", "seeds": [ "Polycystic liver disease 3 with or without kidney cysts" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01625", "question": "What is associated with Increased radioactive iodine uptake?", "seeds": [ "Increased radioactive iodine uptake" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01626", "question": "What is associated with Moyamoya phenomenon?", "seeds": [ "Moyamoya phenomenon" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01627", "question": "What is associated with Combined cystic and ground-glass pattern on pulmonary HRCT?", "seeds": [ "Combined cystic and ground-glass pattern on pulmonary HRCT" ], "gold_answer": "Abnormal pulmonary thoracic imaging finding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01628", "question": "What is associated with Abnormal 2nd metacarpal morphology?", "seeds": [ "Abnormal 2nd metacarpal morphology" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01629", "question": "What phenotype is associated with Retinal dystrophy and microvillus inclusion disease?", "seeds": [ "Retinal dystrophy and microvillus inclusion disease" ], "gold_answer": "Recurrent lower respiratory tract infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01630", "question": "What is associated with Decreased circulating beta-carotene concentration?", "seeds": [ "Decreased circulating beta-carotene concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01631", "question": "What is associated with Fluctuations in consciousness?", "seeds": [ "Fluctuations in consciousness" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01632", "question": "What phenotype is associated with 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs?", "seeds": [ "46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs" ], "gold_answer": "Aplasia/Hypoplasia of the diaphragm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01633", "question": "What phenotype is associated with Paroxysmal exertion-induced dyskinesia?", "seeds": [ "Paroxysmal exertion-induced dyskinesia" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01634", "question": "What is associated with Pyruvate dehydrogenase deficiency?", "seeds": [ "Pyruvate dehydrogenase deficiency" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01635", "question": "What is associated with Radial head fracture?", "seeds": [ "Radial head fracture" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01636", "question": "What is associated with Eyelid pain?", "seeds": [ "Eyelid pain" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01637", "question": "What phenotype is associated with SCHIZENCEPHALY?", "seeds": [ "SCHIZENCEPHALY" ], "gold_answer": "Agenesis of corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01638", "question": "What is associated with Posterior cerebral artery stenosis?", "seeds": [ "Posterior cerebral artery stenosis" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01639", "question": "What is associated with Leukoencephalopathy without lacunae, adult-onset?", "seeds": [ "Leukoencephalopathy without lacunae, adult-onset" ], "gold_answer": "Generalized non-motor (absence) seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01640", "question": "What is associated with Increased CSF histidine concentration?", "seeds": [ "Increased CSF histidine concentration" ], "gold_answer": "Abnormal CSF histidine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01641", "question": "What is associated with Muscular dystrophy, limb-girdle, autosomal recessive 29?", "seeds": [ "Muscular dystrophy, limb-girdle, autosomal recessive 29" ], "gold_answer": "Abnormality of the musculature of the lower limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01642", "question": "What is associated with Elevated plasma pyrophosphate?", "seeds": [ "Elevated plasma pyrophosphate" ], "gold_answer": "Abnormal blood ion concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01643", "question": "What is associated with Occupational disability?", "seeds": [ "Occupational disability" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01644", "question": "What is associated with Mitral valve prolapse 1?", "seeds": [ "Mitral valve prolapse 1" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01645", "question": "What is associated with NUT midline carcinoma?", "seeds": [ "NUT midline carcinoma" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01646", "question": "What is associated with Congenitally uncorrected transposition of the great arteries with cardiac malformation?", "seeds": [ "Congenitally uncorrected transposition of the great arteries with cardiac malformation" ], "gold_answer": "CFC1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "candidate_gene_tested_in" } }, { "query_id": "orph_train_01647", "question": "What is associated with Thyrotoxic periodic paralysis, susceptibility to, 1?", "seeds": [ "Thyrotoxic periodic paralysis, susceptibility to, 1" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01648", "question": "What is associated with Hypocalcemia, autosomal dominant 2?", "seeds": [ "Hypocalcemia, autosomal dominant 2" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01649", "question": "What is associated with Immunodeficiency 60?", "seeds": [ "Immunodeficiency 60" ], "gold_answer": "Abnormal basophil morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01650", "question": "What phenotype is associated with Chromosome 2p12-p11.2 deletion syndrome?", "seeds": [ "Chromosome 2p12-p11.2 deletion syndrome" ], "gold_answer": "Blepharophimosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01651", "question": "What phenotype is associated with Self-limited epilepsy with centrotemporal spikes?", "seeds": [ "Self-limited epilepsy with centrotemporal spikes" ], "gold_answer": "Attention deficit hyperactivity disorder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01652", "question": "What is associated with Mental and growth retardation with amblyopia?", "seeds": [ "Mental and growth retardation with amblyopia" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01653", "question": "What is associated with Prolactin deficiency, isolated?", "seeds": [ "Prolactin deficiency, isolated" ], "gold_answer": "Abnormal prolactin level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01654", "question": "What is associated with Hypointensity of cerebral white matter on MRI?", "seeds": [ "Hypointensity of cerebral white matter on MRI" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01655", "question": "What is associated with Elevated urinary 3-hydroxybutyric acid?", "seeds": [ "Elevated urinary 3-hydroxybutyric acid" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01656", "question": "What is associated with Familial reactive perforating collagenosis?", "seeds": [ "Familial reactive perforating collagenosis" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01657", "question": "What is associated with Isolated generalized anhidrosis with normal sweat glands?", "seeds": [ "Isolated generalized anhidrosis with normal sweat glands" ], "gold_answer": "ITPR2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_01658", "question": "What is associated with Occipital encephalocele?", "seeds": [ "Occipital encephalocele" ], "gold_answer": "DACT1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01659", "question": "What is associated with Persistence of hemoglobin F?", "seeds": [ "Persistence of hemoglobin F" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01660", "question": "What is associated with Extremities cold to touch?", "seeds": [ "Extremities cold to touch" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01661", "question": "What is associated with Abnormal deltoid tuberosity morphology?", "seeds": [ "Abnormal deltoid tuberosity morphology" ], "gold_answer": "Abnormal humeral diaphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01662", "question": "What is associated with Underdeveloped inferior crus of antihelix?", "seeds": [ "Underdeveloped inferior crus of antihelix" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01663", "question": "What phenotype is associated with Atypical pantothenate kinase-associated neurodegeneration?", "seeds": [ "Atypical pantothenate kinase-associated neurodegeneration" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01664", "question": "What is associated with Eating-induced seizure?", "seeds": [ "Eating-induced seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01665", "question": "What is associated with Osteosclerosis-developmental delay-craniosynostosis syndrome?", "seeds": [ "Osteosclerosis-developmental delay-craniosynostosis syndrome" ], "gold_answer": "Weakness of facial musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01666", "question": "What is associated with Abnormal choroid morphology?", "seeds": [ "Abnormal choroid morphology" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01667", "question": "What is associated with Elevated circulating long chain fatty acid concentration?", "seeds": [ "Elevated circulating long chain fatty acid concentration" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01668", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01669", "question": "What is associated with Cementum overgrowth?", "seeds": [ "Cementum overgrowth" ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01670", "question": "What is associated with Abnormal response to insulin tolerance test?", "seeds": [ "Abnormal response to insulin tolerance test" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01671", "question": "What is associated with Joint extensor surface localization?", "seeds": [ "Joint extensor surface localization" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01672", "question": "What is associated with Hyperbilirubinemia, familial transient neonatal?", "seeds": [ "Hyperbilirubinemia, familial transient neonatal" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01673", "question": "What is associated with Corneal dystrophy, gelatinous drop-like?", "seeds": [ "Corneal dystrophy, gelatinous drop-like" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01674", "question": "What is associated with Spinal cord dorsal column hypomyelination?", "seeds": [ "Spinal cord dorsal column hypomyelination" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01675", "question": "What is associated with Intratubular vancomycin casts?", "seeds": [ "Intratubular vancomycin casts" ], "gold_answer": "Renal intratubular casts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01676", "question": "What phenotype is associated with Spinocerebellar ataxia 29, congenital nonprogressive?", "seeds": [ "Spinocerebellar ataxia 29, congenital nonprogressive" ], "gold_answer": "Horizontal nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01677", "question": "What is associated with Breast aplasia?", "seeds": [ "Breast aplasia" ], "gold_answer": "Abnormality of the breast", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01678", "question": "What is associated with Myxomatous mitral valve degeneration?", "seeds": [ "Myxomatous mitral valve degeneration" ], "gold_answer": "Abnormal mitral valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01679", "question": "What is associated with Flatulence?", "seeds": [ "Flatulence" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01680", "question": "What is associated with Inappropriate sinus tachycardia?", "seeds": [ "Inappropriate sinus tachycardia" ], "gold_answer": "Sinus tachycardia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01681", "question": "What is associated with Nonprogressive encephalopathy?", "seeds": [ "Nonprogressive encephalopathy" ], "gold_answer": "Encephalopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01682", "question": "What is associated with Diminished prolactin response to thyrotrophin-releasing hormone stimulation?", "seeds": [ "Diminished prolactin response to thyrotrophin-releasing hormone stimulation" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01683", "question": "What is associated with Increased level of galactonate in red blood cells?", "seeds": [ "Increased level of galactonate in red blood cells" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01684", "question": "What is associated with Partial absence of cerebellar vermis?", "seeds": [ "Partial absence of cerebellar vermis" ], "gold_answer": "Abnormal cerebellar vermis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01685", "question": "What is associated with 1-2 finger cutaneous syndactyly?", "seeds": [ "1-2 finger cutaneous syndactyly" ], "gold_answer": "Syndactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01686", "question": "What is associated with EEG with frontal focal spikes?", "seeds": [ "EEG with frontal focal spikes" ], "gold_answer": "EEG with focal epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01687", "question": "What is associated with Arthrogryposis and ectodermal dysplasia?", "seeds": [ "Arthrogryposis and ectodermal dysplasia" ], "gold_answer": "Abnormal number of teeth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01688", "question": "What is associated with Absent dermal elastic fibers?", "seeds": [ "Absent dermal elastic fibers" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01689", "question": "What is associated with Adrenocortical hypoplasia?", "seeds": [ "Adrenocortical hypoplasia" ], "gold_answer": "Abnormal endocrine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01690", "question": "What is associated with Sphincter of Oddi dyskinesia?", "seeds": [ "Sphincter of Oddi dyskinesia" ], "gold_answer": "Biliary dyskinesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01691", "question": "What is associated with Enlarged epiphyses of the 3rd finger?", "seeds": [ "Enlarged epiphyses of the 3rd finger" ], "gold_answer": "Enlarged epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01692", "question": "What is associated with Tinea imbricata, susceptibility to?", "seeds": [ "Tinea imbricata, susceptibility to" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01693", "question": "What is associated with Gastric arteriovenous malformation?", "seeds": [ "Gastric arteriovenous malformation" ], "gold_answer": "Abnormal gastrointestinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01694", "question": "What is associated with Tropical pancreatitis?", "seeds": [ "Tropical pancreatitis" ], "gold_answer": "Cholestasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01695", "question": "What is associated with Intermittent thrombocytopenia?", "seeds": [ "Intermittent thrombocytopenia" ], "gold_answer": "Thrombocytopenia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01696", "question": "What is associated with Pneumothorax?", "seeds": [ "Pneumothorax" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01697", "question": "What is associated with Microcephaly 29, primary, autosomal recessive?", "seeds": [ "Microcephaly 29, primary, autosomal recessive" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01698", "question": "What is associated with Tooth agenesis, selective, 3?", "seeds": [ "Tooth agenesis, selective, 3" ], "gold_answer": "Abnormal oral physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01699", "question": "What is associated with Hypercoagulability?", "seeds": [ "Hypercoagulability" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01700", "question": "What is associated with Decreased circulating pancreatic isoamylase activity?", "seeds": [ "Decreased circulating pancreatic isoamylase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01701", "question": "What is associated with Dental crowding?", "seeds": [ "Dental crowding" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01702", "question": "What is associated with Distal ulnar hypoplasia?", "seeds": [ "Distal ulnar hypoplasia" ], "gold_answer": "Hypoplasia of the ulna", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01703", "question": "What is associated with Vaginal lymphocele?", "seeds": [ "Vaginal lymphocele" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01704", "question": "What is associated with Sputum infectious agent?", "seeds": [ "Sputum infectious agent" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01705", "question": "What is associated with Platyspondyly?", "seeds": [ "Platyspondyly" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01706", "question": "What is associated with Mesangial matrix expansion?", "seeds": [ "Mesangial matrix expansion" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01707", "question": "What is associated with Retinal vasculitis?", "seeds": [ "Retinal vasculitis" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01708", "question": "What is associated with Sclerotic humeral metaphysis with longitudinal striations?", "seeds": [ "Sclerotic humeral metaphysis with longitudinal striations" ], "gold_answer": "Sclerotic humeral metaphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01709", "question": "What phenotype is associated with Orotic aciduria?", "seeds": [ "Orotic aciduria" ], "gold_answer": "Pyrimidine-responsive megaloblastic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01710", "question": "What is associated with Decreased blood drug concentration?", "seeds": [ "Decreased blood drug concentration" ], "gold_answer": "Abnormal drug response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01711", "question": "What phenotype is associated with Autosomal dominant spastic paraplegia type 73?", "seeds": [ "Autosomal dominant spastic paraplegia type 73" ], "gold_answer": "Distal lower limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01712", "question": "What is associated with Increased urine phenylacetylglutamine level?", "seeds": [ "Increased urine phenylacetylglutamine level" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01713", "question": "What is associated with Abnormal urinary bile acid level?", "seeds": [ "Abnormal urinary bile acid level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01714", "question": "What is associated with Lacrimoauriculodentodigital syndrome-1?", "seeds": [ "Lacrimoauriculodentodigital syndrome-1" ], "gold_answer": "Abnormality of the proximal phalanx of the thumb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01715", "question": "What is associated with Spermatogenic failure 36?", "seeds": [ "Spermatogenic failure 36" ], "gold_answer": "Decreased fertility in males", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01716", "question": "What is associated with Abnormality of facial soft tissue?", "seeds": [ "Abnormality of facial soft tissue" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01717", "question": "What is associated with Periorbital edema?", "seeds": [ "Periorbital edema" ], "gold_answer": "Facial edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01718", "question": "What is associated with Renal cortical hypoechogeneity?", "seeds": [ "Renal cortical hypoechogeneity" ], "gold_answer": "Abnormal renal echogenicity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01719", "question": "What is associated with Anti-Glutamate Receptor delta2 antibody positivity?", "seeds": [ "Anti-Glutamate Receptor delta2 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01720", "question": "What phenotype is associated with Isotretinoin-like syndrome?", "seeds": [ "Isotretinoin-like syndrome" ], "gold_answer": "Atresia of the external auditory canal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01721", "question": "What is associated with Bowing of the legs?", "seeds": [ "Bowing of the legs" ], "gold_answer": "Abnormal diaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01722", "question": "What is associated with Abnormal HDL cholesterol concentration?", "seeds": [ "Abnormal HDL cholesterol concentration" ], "gold_answer": "Abnormal circulating cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01723", "question": "What is associated with Increased variability in muscle fiber diameter?", "seeds": [ "Increased variability in muscle fiber diameter" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01724", "question": "What is associated with Abnormal cerebral cortex morphology?", "seeds": [ "Abnormal cerebral cortex morphology" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01725", "question": "What is associated with Low semen volume?", "seeds": [ "Low semen volume" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01726", "question": "What is associated with Increased anti-feather IgE antibody level?", "seeds": [ "Increased anti-feather IgE antibody level" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01727", "question": "What phenotype is associated with Multiple congenital anomalies-hypotonia-seizures syndrome 3?", "seeds": [ "Multiple congenital anomalies-hypotonia-seizures syndrome 3" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01728", "question": "What is associated with Neuroblastoma, susceptibility to, 2?", "seeds": [ "Neuroblastoma, susceptibility to, 2" ], "gold_answer": "PHOX2B", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_01729", "question": "What is associated with Long thorax?", "seeds": [ "Long thorax" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01730", "question": "What phenotype is associated with Multicentric carpotarsal osteolysis syndrome?", "seeds": [ "Multicentric carpotarsal osteolysis syndrome" ], "gold_answer": "Renal insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01731", "question": "What is associated with Long segment coarctation of the aorta?", "seeds": [ "Long segment coarctation of the aorta" ], "gold_answer": "Coarctation of aorta", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01732", "question": "What is associated with Varus instability of the elbow?", "seeds": [ "Varus instability of the elbow" ], "gold_answer": "Elbow instability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01733", "question": "What is associated with Absent dorsal skin creases over affected joints?", "seeds": [ "Absent dorsal skin creases over affected joints" ], "gold_answer": "Abnormal finger flexion crease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01734", "question": "What is associated with Pseudoepiphysis of the proximal phalanx of the 5th toe?", "seeds": [ "Pseudoepiphysis of the proximal phalanx of the 5th toe" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01735", "question": "What phenotype is associated with Progressive supranuclear palsy-predominant parkinsonism syndrome?", "seeds": [ "Progressive supranuclear palsy-predominant parkinsonism syndrome" ], "gold_answer": "Bradykinesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01736", "question": "What is associated with Isolated mesenteric vein thrombosis?", "seeds": [ "Isolated mesenteric vein thrombosis" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01737", "question": "What phenotype is associated with Plexiform neurofibroma?", "seeds": [ "Plexiform neurofibroma" ], "gold_answer": "Spinal meningioma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01738", "question": "What is associated with Hypospadias 1, X-linked?", "seeds": [ "Hypospadias 1, X-linked" ], "gold_answer": "Displacement of the urethral meatus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01739", "question": "What is associated with High posterior hairline?", "seeds": [ "High posterior hairline" ], "gold_answer": "Abnormality of the posterior hairline", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01740", "question": "What phenotype is associated with Popliteal pterygium syndrome, Bartsocas-Papas type 1?", "seeds": [ "Popliteal pterygium syndrome, Bartsocas-Papas type 1" ], "gold_answer": "Microphthalmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01741", "question": "What is associated with Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency?", "seeds": [ "Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency" ], "gold_answer": "IKZF3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01742", "question": "What is associated with Oculocerebral hypopigmentation syndrome, Preus type?", "seeds": [ "Oculocerebral hypopigmentation syndrome, Preus type" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01743", "question": "What is associated with Intralobular interstitial thickening?", "seeds": [ "Intralobular interstitial thickening" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01744", "question": "What is associated with Visual fixation instability?", "seeds": [ "Visual fixation instability" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01745", "question": "What is associated with Slowed horizontal saccades?", "seeds": [ "Slowed horizontal saccades" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01746", "question": "What is associated with Achlorhydria?", "seeds": [ "Achlorhydria" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01747", "question": "What is associated with Impaired vibratory sensation?", "seeds": [ "Impaired vibratory sensation" ], "gold_answer": "Somatic sensory dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01748", "question": "What is associated with Pelizaeus-Merzbacher disease, classic form?", "seeds": [ "Pelizaeus-Merzbacher disease, classic form" ], "gold_answer": "Abnormal brain-evoked potentials", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01749", "question": "What is associated with Persistent hyperplastic primary vitreous, autosomal recessive?", "seeds": [ "Persistent hyperplastic primary vitreous, autosomal recessive" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01750", "question": "What is associated with Tubular shadows?", "seeds": [ "Tubular shadows" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01751", "question": "What phenotype is associated with Feingold syndrome type 2?", "seeds": [ "Feingold syndrome type 2" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01752", "question": "What is associated with Reduced responsiveness to social cues?", "seeds": [ "Reduced responsiveness to social cues" ], "gold_answer": "Abnormal social behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01753", "question": "What is associated with Punding?", "seeds": [ "Punding" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01754", "question": "What is associated with Neurodevelopmental disorder with dystonia and seizures?", "seeds": [ "Neurodevelopmental disorder with dystonia and seizures" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01755", "question": "What is associated with Recurrent meningococcal disease?", "seeds": [ "Recurrent meningococcal disease" ], "gold_answer": "Recurrent gram-negative bacterial infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01756", "question": "What is associated with Cataract 7?", "seeds": [ "Cataract 7" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01757", "question": "What is associated with Abnormal hepatobiliary system physiology?", "seeds": [ "Abnormal hepatobiliary system physiology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01758", "question": "What phenotype is associated with Levator-Medial rectus synkinesis?", "seeds": [ "Levator-Medial rectus synkinesis" ], "gold_answer": "Ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01759", "question": "What is associated with Elevated circulating 27-hydroxycholesterol concentration?", "seeds": [ "Elevated circulating 27-hydroxycholesterol concentration" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01760", "question": "What is associated with Hemifacial microsomia?", "seeds": [ "Hemifacial microsomia" ], "gold_answer": "Functional abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01761", "question": "What is associated with Ichthyosis, congenital, autosomal recessive 13?", "seeds": [ "Ichthyosis, congenital, autosomal recessive 13" ], "gold_answer": "Abnormal skin morphology of the palm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01762", "question": "What is associated with Wolfram syndrome 1?", "seeds": [ "Wolfram syndrome 1" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01763", "question": "What phenotype is associated with Methemoglobinemia and ambiguous genitalia?", "seeds": [ "Methemoglobinemia and ambiguous genitalia" ], "gold_answer": "Elevated circulating luteinizing hormone level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01764", "question": "What is associated with Bifid proximal phalanx of the thumb?", "seeds": [ "Bifid proximal phalanx of the thumb" ], "gold_answer": "Duplication of the proximal phalanx of the thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01765", "question": "What phenotype is associated with IMINOGLYCINURIA?", "seeds": [ "IMINOGLYCINURIA" ], "gold_answer": "Hydroxyprolinuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01766", "question": "What is associated with Increased circulating apolipoprotein circulation?", "seeds": [ "Increased circulating apolipoprotein circulation" ], "gold_answer": "Abnormal circulating apolipoprotein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01767", "question": "What is associated with Secretory diarrhea?", "seeds": [ "Secretory diarrhea" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01768", "question": "What is associated with Pancreatic cancer, susceptibility to, 5?", "seeds": [ "Pancreatic cancer, susceptibility to, 5" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01769", "question": "What is associated with Rectoureteral fistula?", "seeds": [ "Rectoureteral fistula" ], "gold_answer": "Rectal fistula", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01770", "question": "What is associated with Conjunctival follicles?", "seeds": [ "Conjunctival follicles" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01771", "question": "What is associated with Tibiotalar synostosis?", "seeds": [ "Tibiotalar synostosis" ], "gold_answer": "Synostosis involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01772", "question": "What phenotype is associated with Trichothiodystrophy 7, nonphotosensitive?", "seeds": [ "Trichothiodystrophy 7, nonphotosensitive" ], "gold_answer": "Hypohidrosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01773", "question": "What is associated with Rhizomelic syndrome?", "seeds": [ "Rhizomelic syndrome" ], "gold_answer": "Lower extremity joint dislocation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01774", "question": "What is associated with Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7?", "seeds": [ "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01775", "question": "What is associated with Retarded ejaculation?", "seeds": [ "Retarded ejaculation" ], "gold_answer": "Abnormal ejaculation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01776", "question": "What is associated with Slender ulna?", "seeds": [ "Slender ulna" ], "gold_answer": "Slender forearm bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01777", "question": "What is associated with Pituitary microadenoma?", "seeds": [ "Pituitary microadenoma" ], "gold_answer": "Abnormality of the anterior pituitary", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01778", "question": "What is associated with Restlessness?", "seeds": [ "Restlessness" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01779", "question": "What phenotype is associated with NESCAV syndrome?", "seeds": [ "NESCAV syndrome" ], "gold_answer": "Oculomotor apraxia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01780", "question": "What is associated with Dentin dysplasia type II?", "seeds": [ "Dentin dysplasia type II" ], "gold_answer": "DSPP", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01781", "question": "What phenotype is associated with ATTRV122I amyloidosis?", "seeds": [ "ATTRV122I amyloidosis" ], "gold_answer": "Polyneuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01782", "question": "What is associated with Abnormality of circulating catecholamine level?", "seeds": [ "Abnormality of circulating catecholamine level" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01783", "question": "What phenotype is associated with Vesicoureteral reflux 1?", "seeds": [ "Vesicoureteral reflux 1" ], "gold_answer": "Vesicoureteral reflux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01784", "question": "What is associated with History of recent contralateral injury?", "seeds": [ "History of recent contralateral injury" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01785", "question": "What is associated with T-wave alternans?", "seeds": [ "T-wave alternans" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01786", "question": "What is associated with Distal arthrogryposis?", "seeds": [ "Distal arthrogryposis" ], "gold_answer": "Congenital contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01787", "question": "What is associated with Neuronopathy, distal hereditary motor, type VIIA?", "seeds": [ "Neuronopathy, distal hereditary motor, type VIIA" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01788", "question": "What phenotype is associated with Infantile LAD-like disease due to RAC2 deficiency?", "seeds": [ "Infantile LAD-like disease due to RAC2 deficiency" ], "gold_answer": "Immunodeficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01789", "question": "What is associated with Breast abscess?", "seeds": [ "Breast abscess" ], "gold_answer": "Abnormal immune system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01790", "question": "What is associated with Pseudoepiphyses of second metacarpal?", "seeds": [ "Pseudoepiphyses of second metacarpal" ], "gold_answer": "Metacarpal pseudoepiphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01791", "question": "What phenotype is associated with Nemaline myopathy 5C, autosomal dominant?", "seeds": [ "Nemaline myopathy 5C, autosomal dominant" ], "gold_answer": "Pes cavus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01792", "question": "What is associated with Retinitis pigmentosa 72?", "seeds": [ "Retinitis pigmentosa 72" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01793", "question": "What phenotype is associated with Amelogenesis imperfecta, type IC?", "seeds": [ "Amelogenesis imperfecta, type IC" ], "gold_answer": "Widely spaced teeth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01794", "question": "What phenotype is associated with Hyperinsulinemic hypoglycemia, familial, 7?", "seeds": [ "Hyperinsulinemic hypoglycemia, familial, 7" ], "gold_answer": "Hypoglycemic seizures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01795", "question": "What is associated with Anti-cryptococcal antibody positivity?", "seeds": [ "Anti-cryptococcal antibody positivity" ], "gold_answer": "Bloodstream antifungal antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01796", "question": "What is associated with Snijders Blok-Fisher syndrome?", "seeds": [ "Snijders Blok-Fisher syndrome" ], "gold_answer": "Abnormality of facial soft tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01797", "question": "What is associated with Stippling of the epiphysis of the proximal phalanx of the 3rd finger?", "seeds": [ "Stippling of the epiphysis of the proximal phalanx of the 3rd finger" ], "gold_answer": "Epiphyseal stippling of finger phalanges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01798", "question": "What is associated with Multiple long-bone exostoses?", "seeds": [ "Multiple long-bone exostoses" ], "gold_answer": "Multiple exostoses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01799", "question": "What is associated with Familial progressive hyper- and hypopigmentation?", "seeds": [ "Familial progressive hyper- and hypopigmentation" ], "gold_answer": "KITLG", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01800", "question": "What is associated with Increased PIVKA-II?", "seeds": [ "Increased PIVKA-II" ], "gold_answer": "Abnormality of vitamin metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01801", "question": "What is associated with Furcate cord insertion?", "seeds": [ "Furcate cord insertion" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01802", "question": "What is associated with Naevus flammeus of the eyelid?", "seeds": [ "Naevus flammeus of the eyelid" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01803", "question": "What is associated with Vagal paraganglioma?", "seeds": [ "Vagal paraganglioma" ], "gold_answer": "Neuroendocrine neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01804", "question": "What is associated with Keratoglobus?", "seeds": [ "Keratoglobus" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01805", "question": "What is associated with Persistent idiopathic facial pain?", "seeds": [ "Persistent idiopathic facial pain" ], "gold_answer": "Abnormal exteroceptive sensation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01806", "question": "What is associated with INCISORS, LONG UPPER CENTRAL?", "seeds": [ "INCISORS, LONG UPPER CENTRAL" ], "gold_answer": "Abnormal incisor morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01807", "question": "What is associated with Elevated circulating gamma-aminobutyric acid concentration?", "seeds": [ "Elevated circulating gamma-aminobutyric acid concentration" ], "gold_answer": "Abnormal circulating GABA concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01808", "question": "What is associated with High urinary gonadotropin level?", "seeds": [ "High urinary gonadotropin level" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01809", "question": "What is associated with Partial duplication of the proximal phalanx of the 4th toe?", "seeds": [ "Partial duplication of the proximal phalanx of the 4th toe" ], "gold_answer": "Abnormal morphology of the proximal phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01810", "question": "What is associated with Decreased fecal pH?", "seeds": [ "Decreased fecal pH" ], "gold_answer": "Abnormal stool composition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01811", "question": "What is associated with Abnormal circulating prostaglandin circulation?", "seeds": [ "Abnormal circulating prostaglandin circulation" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01812", "question": "What is associated with Fetal fifth finger clinodactyly?", "seeds": [ "Fetal fifth finger clinodactyly" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01813", "question": "What is associated with Positive tissue encapsulated budding yeast test?", "seeds": [ "Positive tissue encapsulated budding yeast test" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01814", "question": "What is associated with Abnormality of the epiphysis of the proximal phalanx of the 3rd finger?", "seeds": [ "Abnormality of the epiphysis of the proximal phalanx of the 3rd finger" ], "gold_answer": "Abnormal 3rd finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01815", "question": "What is associated with Absent epiphysis of the 1st metatarsal?", "seeds": [ "Absent epiphysis of the 1st metatarsal" ], "gold_answer": "Abnormality of the epiphyses of the hallux", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01816", "question": "What is associated with Abnormality of the upper urinary tract?", "seeds": [ "Abnormality of the upper urinary tract" ], "gold_answer": "Abnormality of the urinary system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01817", "question": "What is associated with Enlargement of the ankles?", "seeds": [ "Enlargement of the ankles" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01818", "question": "What is associated with Coarse humeral trabeculae?", "seeds": [ "Coarse humeral trabeculae" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01819", "question": "What is associated with Actinic keratosis?", "seeds": [ "Actinic keratosis" ], "gold_answer": "Neoplasm of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01820", "question": "What is associated with Tenosynovitis?", "seeds": [ "Tenosynovitis" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01821", "question": "What is associated with Mesangial Immune complex deposition?", "seeds": [ "Mesangial Immune complex deposition" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01822", "question": "What is associated with Recurrent streptococcus pneumoniae infections?", "seeds": [ "Recurrent streptococcus pneumoniae infections" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01823", "question": "What phenotype is associated with 46,xx sex reversal 3?", "seeds": [ "46,xx sex reversal 3" ], "gold_answer": "Sex reversal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01824", "question": "What is associated with Partial duplication of the proximal phalanx of the hallux?", "seeds": [ "Partial duplication of the proximal phalanx of the hallux" ], "gold_answer": "Duplication of phalanx of toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01825", "question": "What is associated with Chemodectoma?", "seeds": [ "Chemodectoma" ], "gold_answer": "Neuroendocrine neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01826", "question": "What is associated with Lunotriquetral ligament tear?", "seeds": [ "Lunotriquetral ligament tear" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01827", "question": "What is associated with Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included?", "seeds": [ "Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01828", "question": "What is associated with Abnormal perceptual state?", "seeds": [ "Abnormal perceptual state" ], "gold_answer": "Abnormal interpretation of external stimuli", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01829", "question": "What is associated with Anal fissure?", "seeds": [ "Anal fissure" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01830", "question": "What is associated with Toe symphalangism?", "seeds": [ "Toe symphalangism" ], "gold_answer": "Toe phalanx synostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01831", "question": "What is associated with Elevated circulating phosphoethanolamine concentration?", "seeds": [ "Elevated circulating phosphoethanolamine concentration" ], "gold_answer": "Abnormal circulating organic amino compound concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01832", "question": "What is associated with Chronic noninfectious lymphadenopathy?", "seeds": [ "Chronic noninfectious lymphadenopathy" ], "gold_answer": "Lymphadenopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01833", "question": "What is associated with Retinitis pigmentosa 95?", "seeds": [ "Retinitis pigmentosa 95" ], "gold_answer": "Abnormal retinal pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01834", "question": "What is associated with Anti-steroid 17alpha-hydroxylase antibody positivity?", "seeds": [ "Anti-steroid 17alpha-hydroxylase antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01835", "question": "What is associated with Ohdo syndrome?", "seeds": [ "Ohdo syndrome" ], "gold_answer": "Abnormal nasal bridge morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01836", "question": "What is associated with Hypogonadotropic hypogonadism 3 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 3 with or without anosmia" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01837", "question": "What is associated with Alopecia-intellectual disability syndrome 4?", "seeds": [ "Alopecia-intellectual disability syndrome 4" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01838", "question": "What is associated with Hypoplasia of the midbrain?", "seeds": [ "Hypoplasia of the midbrain" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01839", "question": "What is associated with Anhedonia?", "seeds": [ "Anhedonia" ], "gold_answer": "Dysregulated negative emotional state", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01840", "question": "What is associated with Telangiectasia macularis eruptiva perstans?", "seeds": [ "Telangiectasia macularis eruptiva perstans" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01841", "question": "What is associated with Abnormal urine sebacic acid concentration?", "seeds": [ "Abnormal urine sebacic acid concentration" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01842", "question": "What is associated with Aplasia/hypoplasia involving bones of the hand?", "seeds": [ "Aplasia/hypoplasia involving bones of the hand" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01843", "question": "What is associated with Reduced fetal femur/foot length ratio?", "seeds": [ "Reduced fetal femur/foot length ratio" ], "gold_answer": "Abnormal fetal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01844", "question": "What is associated with Hepatomegaly?", "seeds": [ "Hepatomegaly" ], "gold_answer": "Visceromegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01845", "question": "What phenotype is associated with Cutaneous mastocytosis-deafness-microtia syndrome?", "seeds": [ "Cutaneous mastocytosis-deafness-microtia syndrome" ], "gold_answer": "Areflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01846", "question": "What is associated with MHC class I deficiency 2?", "seeds": [ "MHC class I deficiency 2" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01847", "question": "What is associated with Hemorrhoids?", "seeds": [ "Hemorrhoids" ], "gold_answer": "Abnormal large intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01848", "question": "What is associated with Hypnopompic sleep paralysis?", "seeds": [ "Hypnopompic sleep paralysis" ], "gold_answer": "Parasomnia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01849", "question": "What is associated with Decreased monosialylated core 1 O-glycan level?", "seeds": [ "Decreased monosialylated core 1 O-glycan level" ], "gold_answer": "Abnormal protein O-linked glycosylation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01850", "question": "What is associated with Xanthomatosis?", "seeds": [ "Xanthomatosis" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01851", "question": "What is associated with Porphyria, acute hepatic?", "seeds": [ "Porphyria, acute hepatic" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01852", "question": "What is associated with Hyperextensible skin of chest?", "seeds": [ "Hyperextensible skin of chest" ], "gold_answer": "Abnormally lax or hyperextensible skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01853", "question": "What is associated with Maternal fever in pregnancy?", "seeds": [ "Maternal fever in pregnancy" ], "gold_answer": "Pregnancy history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01854", "question": "What phenotype is associated with Spastic paraplegia 82, autosomal recessive?", "seeds": [ "Spastic paraplegia 82, autosomal recessive" ], "gold_answer": "Babinski sign", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01855", "question": "What is associated with Slowed horizontal saccades?", "seeds": [ "Slowed horizontal saccades" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01856", "question": "What is associated with Megakaryocytopenia?", "seeds": [ "Megakaryocytopenia" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01857", "question": "What is associated with PLIN4-related distal myopathy?", "seeds": [ "PLIN4-related distal myopathy" ], "gold_answer": "PLIN4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01858", "question": "What is associated with Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1?", "seeds": [ "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1" ], "gold_answer": "Viral encephalitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01859", "question": "What is associated with Abnormal urinary 3-methylhistidine level?", "seeds": [ "Abnormal urinary 3-methylhistidine level" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01860", "question": "What is associated with Elevated urinary uroporphyrin level?", "seeds": [ "Elevated urinary uroporphyrin level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01861", "question": "What is associated with Abnormal hair pattern?", "seeds": [ "Abnormal hair pattern" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01862", "question": "What is associated with Curved distal phalanx of the 5th finger?", "seeds": [ "Curved distal phalanx of the 5th finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01863", "question": "What is associated with Dowling-Degos disease 2?", "seeds": [ "Dowling-Degos disease 2" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01864", "question": "What is associated with Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies?", "seeds": [ "Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies" ], "gold_answer": "Abnormal cerebral cortex morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01865", "question": "What is associated with Elevated thallium concentration?", "seeds": [ "Elevated thallium concentration" ], "gold_answer": "Presence of xenobiotic", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01866", "question": "What is associated with Symphalangism with multiple anomalies of hands and feet?", "seeds": [ "Symphalangism with multiple anomalies of hands and feet" ], "gold_answer": "Absent toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01867", "question": "What is associated with Dorsal subluxation of ulna?", "seeds": [ "Dorsal subluxation of ulna" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01868", "question": "What is associated with Decreased maximal oxygen uptake?", "seeds": [ "Decreased maximal oxygen uptake" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01869", "question": "What is associated with Multicentric femoral head ossification?", "seeds": [ "Multicentric femoral head ossification" ], "gold_answer": "Abnormal ossification involving the femoral head and neck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01870", "question": "What is associated with Sleep onset rapid eye movement period?", "seeds": [ "Sleep onset rapid eye movement period" ], "gold_answer": "Parasomnia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01871", "question": "What phenotype is associated with X-linked intellectual disability, Van Esch type?", "seeds": [ "X-linked intellectual disability, Van Esch type" ], "gold_answer": "Atresia of the external auditory canal", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01872", "question": "What is associated with Lacrimoauriculodentodigital syndrome?", "seeds": [ "Lacrimoauriculodentodigital syndrome" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01873", "question": "What is associated with Central diabetes insipidus?", "seeds": [ "Central diabetes insipidus" ], "gold_answer": "Diabetes insipidus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01874", "question": "What phenotype is associated with Symptomatic form of HFE-related hemochromatosis?", "seeds": [ "Symptomatic form of HFE-related hemochromatosis" ], "gold_answer": "Amenorrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01875", "question": "What is associated with Hydrocephalus-obesity-hypogonadism syndrome?", "seeds": [ "Hydrocephalus-obesity-hypogonadism syndrome" ], "gold_answer": "Abnormal elbow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01876", "question": "What is associated with Female fetal virilization?", "seeds": [ "Female fetal virilization" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01877", "question": "What phenotype is associated with Hypertelorism-microtia-facial clefting syndrome?", "seeds": [ "Hypertelorism-microtia-facial clefting syndrome" ], "gold_answer": "Atresia of the external auditory canal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01878", "question": "What is associated with Limited hip extension?", "seeds": [ "Limited hip extension" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01879", "question": "What is associated with Absent circulating immunoglobulin kappa chain?", "seeds": [ "Absent circulating immunoglobulin kappa chain" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01880", "question": "What is associated with Abnormal bleeding?", "seeds": [ "Abnormal bleeding" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01881", "question": "What phenotype is associated with Hemoglobin-Delta locus?", "seeds": [ "Hemoglobin-Delta locus" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01882", "question": "What phenotype is associated with Mesomelic dysplasia, Nievergelt type?", "seeds": [ "Mesomelic dysplasia, Nievergelt type" ], "gold_answer": "Finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01883", "question": "What is associated with Deafness, autosomal recessive 108?", "seeds": [ "Deafness, autosomal recessive 108" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01884", "question": "What is associated with Increased resting energy expenditure?", "seeds": [ "Increased resting energy expenditure" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01885", "question": "What is associated with Punctate keratitis?", "seeds": [ "Punctate keratitis" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01886", "question": "What is associated with Bacteremia?", "seeds": [ "Bacteremia" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01887", "question": "What is associated with Terminal insomnia?", "seeds": [ "Terminal insomnia" ], "gold_answer": "Insomnia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01888", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2KK?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2KK" ], "gold_answer": "Functional motor deficit", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01889", "question": "What is associated with Forefoot adduction contracture?", "seeds": [ "Forefoot adduction contracture" ], "gold_answer": "Ankle contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01890", "question": "What is associated with Aplasia of the distal phalanx of the 4th toe?", "seeds": [ "Aplasia of the distal phalanx of the 4th toe" ], "gold_answer": "Aplasia of the phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01891", "question": "What is associated with Abnormal kinetic perimetry test?", "seeds": [ "Abnormal kinetic perimetry test" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01892", "question": "What is associated with Triggered by dehydration?", "seeds": [ "Triggered by dehydration" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01893", "question": "What is associated with Cholestatic liver disease?", "seeds": [ "Cholestatic liver disease" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01894", "question": "What phenotype is associated with Pseudohermaphroditism, male, with gynecomastia?", "seeds": [ "Pseudohermaphroditism, male, with gynecomastia" ], "gold_answer": "Female external genitalia in individual with 46,XY karyotype", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01895", "question": "What is associated with Thin lower lip vermilion?", "seeds": [ "Thin lower lip vermilion" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01896", "question": "What is associated with Leukodystrophy, hypomyelinating, 27?", "seeds": [ "Leukodystrophy, hypomyelinating, 27" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01897", "question": "What is associated with Abnormal vagina morphology?", "seeds": [ "Abnormal vagina morphology" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01898", "question": "What is associated with Maladaptive fear-related cognitions?", "seeds": [ "Maladaptive fear-related cognitions" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01899", "question": "What is associated with Coproporphyria?", "seeds": [ "Coproporphyria" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01900", "question": "What is associated with Isovaleric acid, inability to smell?", "seeds": [ "Isovaleric acid, inability to smell" ], "gold_answer": "Abnormality of the sense of smell", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01901", "question": "What is associated with Decreased pre-bronchodilator forced vital capacity?", "seeds": [ "Decreased pre-bronchodilator forced vital capacity" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01902", "question": "What is associated with Diaphragmatic hernia 2?", "seeds": [ "Diaphragmatic hernia 2" ], "gold_answer": "Abnormal blood oxygen level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01903", "question": "What is associated with Cardiomyopathy, dilated, 2L?", "seeds": [ "Cardiomyopathy, dilated, 2L" ], "gold_answer": "Abnormal cardiac septum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01904", "question": "What is associated with Pseudohypoaldosteronism, type IIC?", "seeds": [ "Pseudohypoaldosteronism, type IIC" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01905", "question": "What is associated with Trichodiscoma?", "seeds": [ "Trichodiscoma" ], "gold_answer": "Skin appendage neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01906", "question": "What is associated with Pentosuria?", "seeds": [ "Pentosuria" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01907", "question": "What phenotype is associated with Adrenal hypoplasia, congenital?", "seeds": [ "Adrenal hypoplasia, congenital" ], "gold_answer": "Oligozoospermia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01908", "question": "What is associated with Benign neoplasm of the central nervous system?", "seeds": [ "Benign neoplasm of the central nervous system" ], "gold_answer": "Neoplasm of the central nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01909", "question": "What is associated with Focal impaired awareness autonomic seizure with pupillary dilation/constriction?", "seeds": [ "Focal impaired awareness autonomic seizure with pupillary dilation/constriction" ], "gold_answer": "Focal autonomic seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01910", "question": "What is associated with Failure to increase oxygen saturation on hyperoxia test?", "seeds": [ "Failure to increase oxygen saturation on hyperoxia test" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01911", "question": "What is associated with Focal aware non-motor seizure?", "seeds": [ "Focal aware non-motor seizure" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01912", "question": "What is associated with Reduced factor VII activity?", "seeds": [ "Reduced factor VII activity" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01913", "question": "What is associated with Superior shoulder pain?", "seeds": [ "Superior shoulder pain" ], "gold_answer": "Shoulder pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01914", "question": "What is associated with Abnormal lymphocyte physiology?", "seeds": [ "Abnormal lymphocyte physiology" ], "gold_answer": "Abnormal leukocyte physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01915", "question": "What is associated with Posttussive emesis?", "seeds": [ "Posttussive emesis" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01916", "question": "What is associated with Intraventricular hemorrhage?", "seeds": [ "Intraventricular hemorrhage" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01917", "question": "What phenotype is associated with Fatty liver disease, nonalcoholic, susceptibility to, 2?", "seeds": [ "Fatty liver disease, nonalcoholic, susceptibility to, 2" ], "gold_answer": "Hepatic steatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01918", "question": "What is associated with Transient decreased circulating IgG2?", "seeds": [ "Transient decreased circulating IgG2" ], "gold_answer": "Decreased circulating IgG concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01919", "question": "What is associated with Colorectal cancer, hereditary nonpolyposis, type 2?", "seeds": [ "Colorectal cancer, hereditary nonpolyposis, type 2" ], "gold_answer": "Neoplasm of the colon", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01920", "question": "What phenotype is associated with Muscular dystrophy, limb-girdle, type 2H?", "seeds": [ "Muscular dystrophy, limb-girdle, type 2H" ], "gold_answer": "Paresthesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01921", "question": "What phenotype is associated with Right atrial isomerism (Ivemark)?", "seeds": [ "Right atrial isomerism (Ivemark)" ], "gold_answer": "Pathologic fracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01922", "question": "What is associated with Positive synovial Tropheryma whipplei bacteria microscopy?", "seeds": [ "Positive synovial Tropheryma whipplei bacteria microscopy" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01923", "question": "What is associated with 19p13.13 microdeletion syndrome?", "seeds": [ "19p13.13 microdeletion syndrome" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01924", "question": "What is associated with Mosaic trisomy 20 syndrome?", "seeds": [ "Mosaic trisomy 20 syndrome" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01925", "question": "What is associated with Recurrent bronchopulmonary infections?", "seeds": [ "Recurrent bronchopulmonary infections" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01926", "question": "What is associated with Abnormal amplitude of pattern onset/offset visual evoked potentials?", "seeds": [ "Abnormal amplitude of pattern onset/offset visual evoked potentials" ], "gold_answer": "Abnormality of pattern visual evoked potentials", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01927", "question": "What is associated with Inflammatory bowel disease, immunodeficiency, and encephalopathy?", "seeds": [ "Inflammatory bowel disease, immunodeficiency, and encephalopathy" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01928", "question": "What phenotype is associated with Intellectual developmental disorder with impaired language and dysmorphic facies?", "seeds": [ "Intellectual developmental disorder with impaired language and dysmorphic facies" ], "gold_answer": "Motor stereotypy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01929", "question": "What is associated with Arachnoiditis?", "seeds": [ "Arachnoiditis" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01930", "question": "What is associated with Nipple tenderness?", "seeds": [ "Nipple tenderness" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01931", "question": "What is associated with Upper-body predominance?", "seeds": [ "Upper-body predominance" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01932", "question": "What is associated with Abnormality of the distal phalanx of the 3rd finger?", "seeds": [ "Abnormality of the distal phalanx of the 3rd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01933", "question": "What is associated with Aspiration pneumonia?", "seeds": [ "Aspiration pneumonia" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01934", "question": "What is associated with Partial absence of specific antibody response to tetanus vaccine?", "seeds": [ "Partial absence of specific antibody response to tetanus vaccine" ], "gold_answer": "Decreased specific antibody response to vaccination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01935", "question": "What is associated with Choreoacanthocytosis?", "seeds": [ "Choreoacanthocytosis" ], "gold_answer": "Abnormal calf musculature morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01936", "question": "What is associated with Epilepsy, familial focal, with variable foci 2?", "seeds": [ "Epilepsy, familial focal, with variable foci 2" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01937", "question": "What is associated with Restricted or repetitive behaviors or interests?", "seeds": [ "Restricted or repetitive behaviors or interests" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01938", "question": "What is associated with Recurrent pneumonia?", "seeds": [ "Recurrent pneumonia" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01939", "question": "What is associated with Epidermodysplasia verruciformis, susceptibility to, 5?", "seeds": [ "Epidermodysplasia verruciformis, susceptibility to, 5" ], "gold_answer": "Meningitis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01940", "question": "What is associated with Xq27.3q28 duplication syndrome?", "seeds": [ "Xq27.3q28 duplication syndrome" ], "gold_answer": "Obesity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01941", "question": "What is associated with Increased circulating IgG subclass?", "seeds": [ "Increased circulating IgG subclass" ], "gold_answer": "Increased circulating IgG concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01942", "question": "What is associated with Reduced muscle telethonin level?", "seeds": [ "Reduced muscle telethonin level" ], "gold_answer": "Abnormal muscle fiber protein expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01943", "question": "What is associated with Isolated splenogonadal fusion?", "seeds": [ "Isolated splenogonadal fusion" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01944", "question": "What is associated with Decreased serum estradiol?", "seeds": [ "Decreased serum estradiol" ], "gold_answer": "Abnormal circulating sex hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01945", "question": "What is associated with Pseudohypoaldosteronism, type I, autosomal dominant?", "seeds": [ "Pseudohypoaldosteronism, type I, autosomal dominant" ], "gold_answer": "Abnormal blood monovalent inorganic cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01946", "question": "What is associated with Proximal tapering of metacarpals?", "seeds": [ "Proximal tapering of metacarpals" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01947", "question": "What is associated with Cardiac valve calcification?", "seeds": [ "Cardiac valve calcification" ], "gold_answer": "Abnormal heart valve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01948", "question": "What phenotype is associated with Neuropathy, hereditary sensory, type IE?", "seeds": [ "Neuropathy, hereditary sensory, type IE" ], "gold_answer": "Osteomyelitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01949", "question": "What phenotype is associated with Acheiropody?", "seeds": [ "Acheiropody" ], "gold_answer": "Peromelia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01950", "question": "What is associated with Femoral bowing present at birth, straightening with time?", "seeds": [ "Femoral bowing present at birth, straightening with time" ], "gold_answer": "Abnormality of the calf", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01951", "question": "What phenotype is associated with Amish nemaline myopathy?", "seeds": [ "Amish nemaline myopathy" ], "gold_answer": "Shoulder flexion contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01952", "question": "What is associated with Upper limb peromelia?", "seeds": [ "Upper limb peromelia" ], "gold_answer": "Peromelia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01953", "question": "What phenotype is associated with Brown syndrome?", "seeds": [ "Brown syndrome" ], "gold_answer": "Diplopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01954", "question": "What is associated with Orbital rhabdomyosarcoma?", "seeds": [ "Orbital rhabdomyosarcoma" ], "gold_answer": "Soft tissue sarcoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01955", "question": "What is associated with Anti-AK5 antibody positivity?", "seeds": [ "Anti-AK5 antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01956", "question": "What is associated with Moderate albuminuria?", "seeds": [ "Moderate albuminuria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01957", "question": "What phenotype is associated with Orofacial cleft 15?", "seeds": [ "Orofacial cleft 15" ], "gold_answer": "Agenesis of lateral incisor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01958", "question": "What is associated with Adrenocortical carcinoma with pure aldosterone hypersecretion?", "seeds": [ "Adrenocortical carcinoma with pure aldosterone hypersecretion" ], "gold_answer": "Abnormal urine potassium concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01959", "question": "What is associated with Anal canal neoplasm?", "seeds": [ "Anal canal neoplasm" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01960", "question": "What is associated with X-linked intellectual disability, Snyder type?", "seeds": [ "X-linked intellectual disability, Snyder type" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01961", "question": "What is associated with Cerebellar hemorrhage?", "seeds": [ "Cerebellar hemorrhage" ], "gold_answer": "Intracranial hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01962", "question": "What is associated with Nemaline myopathy 7?", "seeds": [ "Nemaline myopathy 7" ], "gold_answer": "Muscle fiber inclusion bodies", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01963", "question": "What is associated with Hypnagogic sleep paralysis?", "seeds": [ "Hypnagogic sleep paralysis" ], "gold_answer": "Abnormal transition from sleep to wakefulness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01964", "question": "What is associated with Absent epiphyses of the thumb?", "seeds": [ "Absent epiphyses of the thumb" ], "gold_answer": "Abnormal hand epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01965", "question": "What is associated with Asymmetric blood pressure between arms?", "seeds": [ "Asymmetric blood pressure between arms" ], "gold_answer": "Asymmetric blood pressure between limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01966", "question": "What is associated with Irregular epiphysis of the middle phalanx of the 3rd finger?", "seeds": [ "Irregular epiphysis of the middle phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the epiphysis of the middle phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01967", "question": "What is associated with Fibrosis, neurodegeneration, and cerebral angiomatosis?", "seeds": [ "Fibrosis, neurodegeneration, and cerebral angiomatosis" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01968", "question": "What is associated with Ash-leaf spot?", "seeds": [ "Ash-leaf spot" ], "gold_answer": "Hypopigmented macule", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01969", "question": "What is associated with Abnormal mixed venous oxygen saturation?", "seeds": [ "Abnormal mixed venous oxygen saturation" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01970", "question": "What is associated with Antilactoferrin antibody positivity?", "seeds": [ "Antilactoferrin antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01971", "question": "What phenotype is associated with Syndromic X-linked intellectual disability 7?", "seeds": [ "Syndromic X-linked intellectual disability 7" ], "gold_answer": "Hypoplasia of penis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01972", "question": "What is associated with Ipsilateral lack of facial sweating?", "seeds": [ "Ipsilateral lack of facial sweating" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01973", "question": "What is associated with Hypoplasia of the prostate?", "seeds": [ "Hypoplasia of the prostate" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01974", "question": "What is associated with Mucopolysaccharidosis type 6, rapidly progressing?", "seeds": [ "Mucopolysaccharidosis type 6, rapidly progressing" ], "gold_answer": "ARSB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_01975", "question": "What is associated with Bracket epiphysis of the proximal phalanx of the 5th toe?", "seeds": [ "Bracket epiphysis of the proximal phalanx of the 5th toe" ], "gold_answer": "Bracket epiphyses of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01976", "question": "What is associated with Bracket metacarpal epiphyses?", "seeds": [ "Bracket metacarpal epiphyses" ], "gold_answer": "Abnormal metacarpal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01977", "question": "What phenotype is associated with Erythroleukemia, familial, susceptibility to?", "seeds": [ "Erythroleukemia, familial, susceptibility to" ], "gold_answer": "Leukemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01978", "question": "What is associated with Chronic active Epstein-Barr virus infection?", "seeds": [ "Chronic active Epstein-Barr virus infection" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01979", "question": "What is associated with Patent ductus arteriosus after birth at term?", "seeds": [ "Patent ductus arteriosus after birth at term" ], "gold_answer": "Patent ductus arteriosus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01980", "question": "What is associated with Sclerotic radial metaphysis with longitudinal striations?", "seeds": [ "Sclerotic radial metaphysis with longitudinal striations" ], "gold_answer": "Sclerosis of metaphyses of the upper limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01981", "question": "What is associated with Enlarged epiphysis of the middle phalanx of the 5th toe?", "seeds": [ "Enlarged epiphysis of the middle phalanx of the 5th toe" ], "gold_answer": "Enlarged epiphyses of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01982", "question": "What is associated with Familial developmental dysphasia?", "seeds": [ "Familial developmental dysphasia" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01983", "question": "What is associated with Microphthalmia, isolated, with coloboma 10?", "seeds": [ "Microphthalmia, isolated, with coloboma 10" ], "gold_answer": "Ocular anterior segment dysgenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01984", "question": "What is associated with Reduced erythrocyte free porphyrin concentration?", "seeds": [ "Reduced erythrocyte free porphyrin concentration" ], "gold_answer": "Abnormal circulating porphyrin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01985", "question": "What is associated with Occupational exposure history?", "seeds": [ "Occupational exposure history" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01986", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 68?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 68" ], "gold_answer": "Delayed ability to walk", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01987", "question": "What is associated with Cutis laxa?", "seeds": [ "Cutis laxa" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01988", "question": "What is associated with Global cerebellar dysplasia?", "seeds": [ "Global cerebellar dysplasia" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01989", "question": "What is associated with Bracket epiphyses of the proximal phalanges of the hand?", "seeds": [ "Bracket epiphyses of the proximal phalanges of the hand" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01990", "question": "What is associated with Malar prominence?", "seeds": [ "Malar prominence" ], "gold_answer": "Abnormal midface morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01991", "question": "What phenotype is associated with Hyperkeratosis lenticularis perstans?", "seeds": [ "Hyperkeratosis lenticularis perstans" ], "gold_answer": "Squamous cell carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_01992", "question": "What is associated with Incomplete ossification of pubis?", "seeds": [ "Incomplete ossification of pubis" ], "gold_answer": "Abnormal pubic bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01993", "question": "What is associated with Increased red cell osmotic resistance?", "seeds": [ "Increased red cell osmotic resistance" ], "gold_answer": "Abnormal erythrocyte physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01994", "question": "What is associated with Reduced circulating interleukin 22 concentration?", "seeds": [ "Reduced circulating interleukin 22 concentration" ], "gold_answer": "Abnormal circulating interleukin 22 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_01995", "question": "What is associated with Abnormal factor IX activity?", "seeds": [ "Abnormal factor IX activity" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01996", "question": "What is associated with Blepharochalasis and double lip?", "seeds": [ "Blepharochalasis and double lip" ], "gold_answer": "Abnormal thyroid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01997", "question": "What is associated with Parkinsonism-Dystonia, infantile, 1?", "seeds": [ "Parkinsonism-Dystonia, infantile, 1" ], "gold_answer": "Abnormal esophagus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_01998", "question": "What is associated with Fractured epiphysis of third metatarsal bone?", "seeds": [ "Fractured epiphysis of third metatarsal bone" ], "gold_answer": "Fragmented epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_01999", "question": "What is associated with Phosphoglycerate mutase, muscle, deficiency of?", "seeds": [ "Phosphoglycerate mutase, muscle, deficiency of" ], "gold_answer": "Muscle spasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02000", "question": "What is associated with Auriculocondylar syndrome 4?", "seeds": [ "Auriculocondylar syndrome 4" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02001", "question": "What is associated with Increased urine succinate level?", "seeds": [ "Increased urine succinate level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02002", "question": "What is associated with Anterior segment dysgenesis 5, multiple subtypes?", "seeds": [ "Anterior segment dysgenesis 5, multiple subtypes" ], "gold_answer": "PITX2", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02003", "question": "What is associated with Intermittent microsaccadic pursuits?", "seeds": [ "Intermittent microsaccadic pursuits" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02004", "question": "What is associated with Epileptic encephalopathy?", "seeds": [ "Epileptic encephalopathy" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02005", "question": "What is associated with Maternal amniocentesis?", "seeds": [ "Maternal amniocentesis" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02006", "question": "What phenotype is associated with Pitt-Hopkins-Like syndrome 2?", "seeds": [ "Pitt-Hopkins-Like syndrome 2" ], "gold_answer": "Constipation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02007", "question": "What phenotype is associated with Carboxypeptidase N deficiency?", "seeds": [ "Carboxypeptidase N deficiency" ], "gold_answer": "Allergic rhinitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02008", "question": "What is associated with Broad middle phalanx of the 2nd toe?", "seeds": [ "Broad middle phalanx of the 2nd toe" ], "gold_answer": "Broad phalanx of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02009", "question": "What is associated with Sulfite oxidase deficiency?", "seeds": [ "Sulfite oxidase deficiency" ], "gold_answer": "Abnormality of dental eruption", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02010", "question": "What phenotype is associated with Epilepsy with grand mal seizures on awakening?", "seeds": [ "Epilepsy with grand mal seizures on awakening" ], "gold_answer": "Generalized myoclonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02011", "question": "What is associated with Sleep walking?", "seeds": [ "Sleep walking" ], "gold_answer": "Parasomnia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02012", "question": "What is associated with Patchy sclerosis of proximal toe phalanx?", "seeds": [ "Patchy sclerosis of proximal toe phalanx" ], "gold_answer": "Patchy sclerosis of toe phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02013", "question": "What is associated with Postural hypotension with compensatory tachycardia?", "seeds": [ "Postural hypotension with compensatory tachycardia" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02014", "question": "What phenotype is associated with Microcephalic primordial dwarfism, Montreal type?", "seeds": [ "Microcephalic primordial dwarfism, Montreal type" ], "gold_answer": "Open bite", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02015", "question": "What is associated with Reduced muscle fiber delta sarcoglycan?", "seeds": [ "Reduced muscle fiber delta sarcoglycan" ], "gold_answer": "Abnormal muscle fiber protein expression", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02016", "question": "What is associated with Increased rate of premature chromosome condensation?", "seeds": [ "Increased rate of premature chromosome condensation" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02017", "question": "What phenotype is associated with Peroxisome biogenesis disorder 4A (Zellweger)?", "seeds": [ "Peroxisome biogenesis disorder 4A (Zellweger)" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02018", "question": "What is associated with Morning myoclonic jerks?", "seeds": [ "Morning myoclonic jerks" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02019", "question": "What phenotype is associated with Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related?", "seeds": [ "Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related" ], "gold_answer": "Rigidity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02020", "question": "What phenotype is associated with Triphalangeal thumb, nonopposable?", "seeds": [ "Triphalangeal thumb, nonopposable" ], "gold_answer": "Triphalangeal thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02021", "question": "What is associated with Orofacial cleft 3?", "seeds": [ "Orofacial cleft 3" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02022", "question": "What is associated with Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive?", "seeds": [ "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02023", "question": "What is associated with Agammaglobulinemia 1, autosomal recessive?", "seeds": [ "Agammaglobulinemia 1, autosomal recessive" ], "gold_answer": "Abnormal large intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02024", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 23?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 23" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02025", "question": "What is associated with Cleft soft palate?", "seeds": [ "Cleft soft palate" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02026", "question": "What is associated with Macular edema, cystoid?", "seeds": [ "Macular edema, cystoid" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02027", "question": "What is associated with Focal impaired awareness seizure?", "seeds": [ "Focal impaired awareness seizure" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02028", "question": "What phenotype is associated with Developmental and epileptic encephalopathy with spike-wave activation in sleep?", "seeds": [ "Developmental and epileptic encephalopathy with spike-wave activation in sleep" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02029", "question": "What phenotype is associated with Epidermodysplasia verruciformis 2?", "seeds": [ "Epidermodysplasia verruciformis 2" ], "gold_answer": "Verruca plana", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02030", "question": "What is associated with Flame-shaped retinal hemorrhage?", "seeds": [ "Flame-shaped retinal hemorrhage" ], "gold_answer": "Intraretinal hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02031", "question": "What is associated with Anonychia-microcephaly syndrome?", "seeds": [ "Anonychia-microcephaly syndrome" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02032", "question": "What is associated with Microcephalic osteodysplastic primordial dwarfism type II?", "seeds": [ "Microcephalic osteodysplastic primordial dwarfism type II" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02033", "question": "What is associated with Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level?", "seeds": [ "Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02034", "question": "What phenotype is associated with Refractory celiac disease?", "seeds": [ "Refractory celiac disease" ], "gold_answer": "Normocytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02035", "question": "What is associated with Spinocerebellar ataxia, X-linked 5?", "seeds": [ "Spinocerebellar ataxia, X-linked 5" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02036", "question": "What phenotype is associated with Myotonia permanens?", "seeds": [ "Myotonia permanens" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02037", "question": "What is associated with Elevated circulating C5 acylcarnitine concentration?", "seeds": [ "Elevated circulating C5 acylcarnitine concentration" ], "gold_answer": "Abnormal circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02038", "question": "What is associated with Bronchiectasis with or without elevated sweat chloride 2?", "seeds": [ "Bronchiectasis with or without elevated sweat chloride 2" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02039", "question": "What is associated with Trismus?", "seeds": [ "Trismus" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02040", "question": "What phenotype is associated with Deafness, autosomal dominant 68?", "seeds": [ "Deafness, autosomal dominant 68" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02041", "question": "What is associated with Pituitary carcinoma?", "seeds": [ "Pituitary carcinoma" ], "gold_answer": "Abnormal pituitary gland morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02042", "question": "What is associated with Charcot-Marie-Tooth disease, type 4A?", "seeds": [ "Charcot-Marie-Tooth disease, type 4A" ], "gold_answer": "Abnormal motor nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02043", "question": "What is associated with Corner fragments of ulnar metaphysis?", "seeds": [ "Corner fragments of ulnar metaphysis" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02044", "question": "What is associated with Hypotonia?", "seeds": [ "Hypotonia" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02045", "question": "What is associated with Tethered cord?", "seeds": [ "Tethered cord" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02046", "question": "What is associated with Pancreatic cysts?", "seeds": [ "Pancreatic cysts" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02047", "question": "What is associated with Abnormal forearm bone morphology?", "seeds": [ "Abnormal forearm bone morphology" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02048", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 3?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 3" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02049", "question": "What is associated with Increased mean corpuscular volume?", "seeds": [ "Increased mean corpuscular volume" ], "gold_answer": "Abnormal mean corpuscular volume", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02050", "question": "What is associated with Enhancement of the C-reflex?", "seeds": [ "Enhancement of the C-reflex" ], "gold_answer": "Abnormality of peripheral nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02051", "question": "What is associated with Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included?", "seeds": [ "Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included" ], "gold_answer": "Hypoplastic ventricle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02052", "question": "What phenotype is associated with Epilepsy, juvenile absence?", "seeds": [ "Epilepsy, juvenile absence" ], "gold_answer": "Generalized myoclonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02053", "question": "What is associated with Peripheral retinal atrophy?", "seeds": [ "Peripheral retinal atrophy" ], "gold_answer": "Retinal atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02054", "question": "What is associated with Stippling of the epiphyses of the 4th finger?", "seeds": [ "Stippling of the epiphyses of the 4th finger" ], "gold_answer": "Epiphyseal stippling of finger phalanges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02055", "question": "What phenotype is associated with Leprosy?", "seeds": [ "Leprosy" ], "gold_answer": "Uveitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02056", "question": "What is associated with Uterine leiomyosarcoma?", "seeds": [ "Uterine leiomyosarcoma" ], "gold_answer": "Uterine neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02057", "question": "What phenotype is associated with Van Maldergem syndrome 1?", "seeds": [ "Van Maldergem syndrome 1" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02058", "question": "What is associated with Irregular epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Irregular epiphysis of the proximal phalanx of the 4th finger" ], "gold_answer": "Abnormality of the epiphyses of the 4th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02059", "question": "What phenotype is associated with Acyl-Coa dehydrogenase, medium-chain, deficiency of?", "seeds": [ "Acyl-Coa dehydrogenase, medium-chain, deficiency of" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02060", "question": "What is associated with Phosphaturic mesenchymal tumor?", "seeds": [ "Phosphaturic mesenchymal tumor" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02061", "question": "What is associated with Joint contracture of the 3rd finger?", "seeds": [ "Joint contracture of the 3rd finger" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02062", "question": "What is associated with Milky appearance of bronchoalveolar lavage fluid?", "seeds": [ "Milky appearance of bronchoalveolar lavage fluid" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02063", "question": "What phenotype is associated with Alpha-N-acetylgalactosaminidase deficiency type 1?", "seeds": [ "Alpha-N-acetylgalactosaminidase deficiency type 1" ], "gold_answer": "Autism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02064", "question": "What is associated with Hyperphenylalaninemia, MILD, non-bh4-deficient?", "seeds": [ "Hyperphenylalaninemia, MILD, non-bh4-deficient" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02065", "question": "What phenotype is associated with Drug-induced lupus erythematosus?", "seeds": [ "Drug-induced lupus erythematosus" ], "gold_answer": "Pericardial effusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02066", "question": "What is associated with Subcortical white matter calcifications?", "seeds": [ "Subcortical white matter calcifications" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02067", "question": "What is associated with Leber congenital amaurosis 19?", "seeds": [ "Leber congenital amaurosis 19" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02068", "question": "What is associated with Machado-Joseph disease type 2?", "seeds": [ "Machado-Joseph disease type 2" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02069", "question": "What is associated with Acroparesthesia?", "seeds": [ "Acroparesthesia" ], "gold_answer": "Somatic sensory dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02070", "question": "What is associated with Pseudohypoaldosteronism, type IIE?", "seeds": [ "Pseudohypoaldosteronism, type IIE" ], "gold_answer": "Increased blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02071", "question": "What phenotype is associated with Autosomal dominant spastic paraplegia type 6?", "seeds": [ "Autosomal dominant spastic paraplegia type 6" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02072", "question": "What is associated with Myelodysplastic neoplasm with low blasts?", "seeds": [ "Myelodysplastic neoplasm with low blasts" ], "gold_answer": "Abnormal total neutrophil count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02073", "question": "What phenotype is associated with Wilms tumor 1?", "seeds": [ "Wilms tumor 1" ], "gold_answer": "Nephroblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02074", "question": "What is associated with Paradoxical respiration?", "seeds": [ "Paradoxical respiration" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02075", "question": "What is associated with Flaring of lower rib cage?", "seeds": [ "Flaring of lower rib cage" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02076", "question": "What is associated with Periodic fever, menstrual cycle-dependent?", "seeds": [ "Periodic fever, menstrual cycle-dependent" ], "gold_answer": "Abnormality of temperature regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02077", "question": "What is associated with Isolated Klippel-Feil syndrome?", "seeds": [ "Isolated Klippel-Feil syndrome" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02078", "question": "What phenotype is associated with Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy?", "seeds": [ "Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" ], "gold_answer": "Bilateral tonic-clonic seizure with generalized onset", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02079", "question": "What is associated with Cone-shaped epiphysis of the proximal phalanx of the 5th finger?", "seeds": [ "Cone-shaped epiphysis of the proximal phalanx of the 5th finger" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02080", "question": "What is associated with Increased corneal thickness?", "seeds": [ "Increased corneal thickness" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02081", "question": "What is associated with Retinal vasculitis?", "seeds": [ "Retinal vasculitis" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02082", "question": "What is associated with Accessory navicular bone?", "seeds": [ "Accessory navicular bone" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02083", "question": "What is associated with ALG6-CDG?", "seeds": [ "ALG6-CDG" ], "gold_answer": "Short phalanx of finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02084", "question": "What is associated with Multiple mitochondrial dysfunctions syndrome 5?", "seeds": [ "Multiple mitochondrial dysfunctions syndrome 5" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02085", "question": "What is associated with Microphthalmia, syndromic 11?", "seeds": [ "Microphthalmia, syndromic 11" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02086", "question": "What is associated with Irregular respiration?", "seeds": [ "Irregular respiration" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02087", "question": "What is associated with Age-related nuclear cataract?", "seeds": [ "Age-related nuclear cataract" ], "gold_answer": "Age-related cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02088", "question": "What is associated with Chromosome 8q22.1 duplication syndrome?", "seeds": [ "Chromosome 8q22.1 duplication syndrome" ], "gold_answer": "Abnormal palm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02089", "question": "What is associated with Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome?", "seeds": [ "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02090", "question": "What is associated with Immunoglobulin A vasculitis?", "seeds": [ "Immunoglobulin A vasculitis" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02091", "question": "What is associated with Leydig cell hypoplasia due to complete LH resistance?", "seeds": [ "Leydig cell hypoplasia due to complete LH resistance" ], "gold_answer": "LHCGR", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_02092", "question": "What is associated with Abnormal cerebral artery morphology?", "seeds": [ "Abnormal cerebral artery morphology" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02093", "question": "What is associated with Aicardi-Goutieres syndrome 4?", "seeds": [ "Aicardi-Goutieres syndrome 4" ], "gold_answer": "Intracranial calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02094", "question": "What is associated with Palmomental reflex?", "seeds": [ "Palmomental reflex" ], "gold_answer": "Primitive reflex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02095", "question": "What is associated with Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome?", "seeds": [ "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" ], "gold_answer": "SYT1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02096", "question": "What is associated with Amyotrophy of the musculature of the pelvis?", "seeds": [ "Amyotrophy of the musculature of the pelvis" ], "gold_answer": "Pelvic girdle muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02097", "question": "What is associated with Orthostatic tachycardia?", "seeds": [ "Orthostatic tachycardia" ], "gold_answer": "Abnormality of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02098", "question": "What is associated with Glutaric aciduria III?", "seeds": [ "Glutaric aciduria III" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02099", "question": "What is associated with Cervical spinal canal stenosis?", "seeds": [ "Cervical spinal canal stenosis" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02100", "question": "What is associated with Diabetic embryopathy?", "seeds": [ "Diabetic embryopathy" ], "gold_answer": "Conotruncal defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02101", "question": "What is associated with Abnormal tricuspid valve leaflet morphology?", "seeds": [ "Abnormal tricuspid valve leaflet morphology" ], "gold_answer": "Abnormal tricuspid valve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02102", "question": "What is associated with Trichomegaly?", "seeds": [ "Trichomegaly" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02103", "question": "What is associated with Delayed eruption of primary teeth?", "seeds": [ "Delayed eruption of primary teeth" ], "gold_answer": "Abnormality of primary teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02104", "question": "What is associated with Abnormal tricuspid valve annulus morphology?", "seeds": [ "Abnormal tricuspid valve annulus morphology" ], "gold_answer": "Abnormal tricuspid valve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02105", "question": "What is associated with Perinephric fluid collection?", "seeds": [ "Perinephric fluid collection" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02106", "question": "What is associated with Miscarriage?", "seeds": [ "Miscarriage" ], "gold_answer": "Prenatal death", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02107", "question": "What is associated with Prelingual sensorineural hearing impairment?", "seeds": [ "Prelingual sensorineural hearing impairment" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02108", "question": "What is associated with Abnormal digestive system morphology?", "seeds": [ "Abnormal digestive system morphology" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02109", "question": "What is associated with Spasticity?", "seeds": [ "Spasticity" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02110", "question": "What is associated with Aplasia of the 2nd metacarpal?", "seeds": [ "Aplasia of the 2nd metacarpal" ], "gold_answer": "Aplasia/Hypoplasia of the 2nd metacarpal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02111", "question": "What is associated with Retroperitoneal mass?", "seeds": [ "Retroperitoneal mass" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02112", "question": "What is associated with Tracheomegaly?", "seeds": [ "Tracheomegaly" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02113", "question": "What is associated with Autosomal dominant spastic paraplegia type 41?", "seeds": [ "Autosomal dominant spastic paraplegia type 41" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02114", "question": "What is associated with Abnormal proerythroblast morphology?", "seeds": [ "Abnormal proerythroblast morphology" ], "gold_answer": "Abnormal erythroid lineage cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02115", "question": "What is associated with Aplasia/Hypoplasia of the distal phalanges of the hand?", "seeds": [ "Aplasia/Hypoplasia of the distal phalanges of the hand" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02116", "question": "What is associated with Ankylosing vertebral hyperostosis with tylosis?", "seeds": [ "Ankylosing vertebral hyperostosis with tylosis" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02117", "question": "What is associated with Acute erythroid leukemia?", "seeds": [ "Acute erythroid leukemia" ], "gold_answer": "Abnormal circulating IgM concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02118", "question": "What is associated with Intellectual developmental disorder with impaired language and dysmorphic facies?", "seeds": [ "Intellectual developmental disorder with impaired language and dysmorphic facies" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02119", "question": "What is associated with Rare autosomal recessive non-syndromic sensorineural deafness type DFNB?", "seeds": [ "Rare autosomal recessive non-syndromic sensorineural deafness type DFNB" ], "gold_answer": "EPS8L2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02120", "question": "What is associated with Elevated circulating CCL3 concentration?", "seeds": [ "Elevated circulating CCL3 concentration" ], "gold_answer": "Abnormal circulating chemokine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02121", "question": "What is associated with Abnormal capillary morphology?", "seeds": [ "Abnormal capillary morphology" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02122", "question": "What is associated with Hypotonia with lactic acidemia and hyperammonemia?", "seeds": [ "Hypotonia with lactic acidemia and hyperammonemia" ], "gold_answer": "MRPS22", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02123", "question": "What is associated with IMAGe syndrome?", "seeds": [ "IMAGe syndrome" ], "gold_answer": "Abnormal frontal bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02124", "question": "What phenotype is associated with Cree impaired intellectual development syndrome?", "seeds": [ "Cree impaired intellectual development syndrome" ], "gold_answer": "Coloboma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02125", "question": "What is associated with Solitary angiokeratoma?", "seeds": [ "Solitary angiokeratoma" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02126", "question": "What is associated with Epileptic encephalopathy, early infantile, 40?", "seeds": [ "Epileptic encephalopathy, early infantile, 40" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02127", "question": "What is associated with Progressive familial heart block, type II?", "seeds": [ "Progressive familial heart block, type II" ], "gold_answer": "Third degree atrioventricular block", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02128", "question": "What is associated with Hydrocele testis?", "seeds": [ "Hydrocele testis" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02129", "question": "What is associated with Joint subluxation?", "seeds": [ "Joint subluxation" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02130", "question": "What is associated with Myeloproliferative disorder?", "seeds": [ "Myeloproliferative disorder" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02131", "question": "What is associated with Chronic noninfectious lymphadenopathy?", "seeds": [ "Chronic noninfectious lymphadenopathy" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02132", "question": "What is associated with Abnormal manual kinetic perimetry test?", "seeds": [ "Abnormal manual kinetic perimetry test" ], "gold_answer": "Abnormal visual field test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02133", "question": "What phenotype is associated with Variegate porphyria, childhood-onset?", "seeds": [ "Variegate porphyria, childhood-onset" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02134", "question": "What is associated with Sclerosis of the distal phalanx of the 3rd finger?", "seeds": [ "Sclerosis of the distal phalanx of the 3rd finger" ], "gold_answer": "Sclerosis of distal phalanx of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02135", "question": "What is associated with Enterocutaneous fistula?", "seeds": [ "Enterocutaneous fistula" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02136", "question": "What is associated with Flared, irregular rib ends?", "seeds": [ "Flared, irregular rib ends" ], "gold_answer": "Cupped ribs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02137", "question": "What phenotype is associated with Thrombophilia due to deficiency of activated protein C cofactor?", "seeds": [ "Thrombophilia due to deficiency of activated protein C cofactor" ], "gold_answer": "Resistance to activated protein C", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02138", "question": "What is associated with Proximal biceps tendon rupture?", "seeds": [ "Proximal biceps tendon rupture" ], "gold_answer": "Tendon rupture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02139", "question": "What phenotype is associated with Facial clefting, oblique, 1?", "seeds": [ "Facial clefting, oblique, 1" ], "gold_answer": "Cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02140", "question": "What phenotype is associated with Leydig cell hypoplasia?", "seeds": [ "Leydig cell hypoplasia" ], "gold_answer": "Hypergonadotropic hypogonadism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02141", "question": "What is associated with Retinopathy of prematurity threshold?", "seeds": [ "Retinopathy of prematurity threshold" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02142", "question": "What is associated with X-linked intellectual disability, Stevenson type?", "seeds": [ "X-linked intellectual disability, Stevenson type" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02143", "question": "What is associated with Lack of insight?", "seeds": [ "Lack of insight" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02144", "question": "What is associated with Hypoinsulinemic hypoglycemia and body hemihypertrophy?", "seeds": [ "Hypoinsulinemic hypoglycemia and body hemihypertrophy" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02145", "question": "What is associated with Fractured proximal phalanx of manual digit 1?", "seeds": [ "Fractured proximal phalanx of manual digit 1" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02146", "question": "What is associated with Abnormal lymph node cell composition?", "seeds": [ "Abnormal lymph node cell composition" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02147", "question": "What is associated with Alpha-methylacetoacetic aciduria?", "seeds": [ "Alpha-methylacetoacetic aciduria" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02148", "question": "What is associated with Short middle phalanx of the 3rd finger?", "seeds": [ "Short middle phalanx of the 3rd finger" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02149", "question": "What phenotype is associated with Congenital sucrase-isomaltase deficiency?", "seeds": [ "Congenital sucrase-isomaltase deficiency" ], "gold_answer": "Poor appetite", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02150", "question": "What is associated with Spinocerebellar ataxia 14?", "seeds": [ "Spinocerebellar ataxia 14" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02151", "question": "What is associated with Fragmented finger phalanx epiphysis?", "seeds": [ "Fragmented finger phalanx epiphysis" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02152", "question": "What is associated with Demonstration of Leishmania in tissue?", "seeds": [ "Demonstration of Leishmania in tissue" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02153", "question": "What phenotype is associated with Cystic hamartoma of lung and kidney?", "seeds": [ "Cystic hamartoma of lung and kidney" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02154", "question": "What phenotype is associated with Bulbar palsy, progressive, of childhood?", "seeds": [ "Bulbar palsy, progressive, of childhood" ], "gold_answer": "Ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02155", "question": "What phenotype is associated with Retinitis pigmentosa 47?", "seeds": [ "Retinitis pigmentosa 47" ], "gold_answer": "Decreased light- and dark-adapted electroretinogram amplitude", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02156", "question": "What phenotype is associated with Muscular dystrophy, limb-girdle, autosomal recessive 21?", "seeds": [ "Muscular dystrophy, limb-girdle, autosomal recessive 21" ], "gold_answer": "Loss of ambulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02157", "question": "What is associated with Bull's eye rash?", "seeds": [ "Bull's eye rash" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02158", "question": "What is associated with Abnormal circulating calcium concentration?", "seeds": [ "Abnormal circulating calcium concentration" ], "gold_answer": "Abnormal blood ion concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02159", "question": "What is associated with Feingold syndrome 1?", "seeds": [ "Feingold syndrome 1" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02160", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11)?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11)" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02161", "question": "What is associated with Abnormal proportion of exhausted T cells?", "seeds": [ "Abnormal proportion of exhausted T cells" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02162", "question": "What is associated with Mild expressive language delay?", "seeds": [ "Mild expressive language delay" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02163", "question": "What phenotype is associated with Mosaic trisomy 14 syndrome?", "seeds": [ "Mosaic trisomy 14 syndrome" ], "gold_answer": "Hypoplastic helices", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02164", "question": "What is associated with Ossifying fibroma?", "seeds": [ "Ossifying fibroma" ], "gold_answer": "Sarcoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02165", "question": "What is associated with Mastoiditis?", "seeds": [ "Mastoiditis" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02166", "question": "What is associated with Cone-shaped epiphyses of the middle phalanges of the hand?", "seeds": [ "Cone-shaped epiphyses of the middle phalanges of the hand" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02167", "question": "What phenotype is associated with Pseudohypoaldosteronism, type I, autosomal dominant?", "seeds": [ "Pseudohypoaldosteronism, type I, autosomal dominant" ], "gold_answer": "Hypotension", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02168", "question": "What is associated with Abnormal CSF neopterin concentration?", "seeds": [ "Abnormal CSF neopterin concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02169", "question": "What phenotype is associated with Cortical dysplasia, complex, with other brain malformations 7?", "seeds": [ "Cortical dysplasia, complex, with other brain malformations 7" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02170", "question": "What is associated with Ivory epiphyses of the 4th toe?", "seeds": [ "Ivory epiphyses of the 4th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02171", "question": "What is associated with Supravalvar pulmonary stenosis?", "seeds": [ "Supravalvar pulmonary stenosis" ], "gold_answer": "Pulmonic stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02172", "question": "What is associated with Microcephaly, short stature, and impaired glucose metabolism 2?", "seeds": [ "Microcephaly, short stature, and impaired glucose metabolism 2" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02173", "question": "What is associated with Anetoderma?", "seeds": [ "Anetoderma" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02174", "question": "What is associated with Presenile cataracts?", "seeds": [ "Presenile cataracts" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02175", "question": "What is associated with Lack of interest in peers?", "seeds": [ "Lack of interest in peers" ], "gold_answer": "Abnormal social behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02176", "question": "What is associated with Osteolytic defects of the proximal phalanx of the 5th finger?", "seeds": [ "Osteolytic defects of the proximal phalanx of the 5th finger" ], "gold_answer": "Abnormality of the proximal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02177", "question": "What is associated with Abnormal localization of kidney?", "seeds": [ "Abnormal localization of kidney" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02178", "question": "What is associated with Abnormality of the middle ear ossicles?", "seeds": [ "Abnormality of the middle ear ossicles" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02179", "question": "What is associated with Combined oxidative phosphorylation defect type 13?", "seeds": [ "Combined oxidative phosphorylation defect type 13" ], "gold_answer": "Muscle fiber atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02180", "question": "What is associated with Very low visual acuity?", "seeds": [ "Very low visual acuity" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02181", "question": "What is associated with Mortality/Aging?", "seeds": [ "Mortality/Aging" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02182", "question": "What is associated with Horizontal incomitant strabismus?", "seeds": [ "Horizontal incomitant strabismus" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02183", "question": "What is associated with Increased CSF isoleucine concentration?", "seeds": [ "Increased CSF isoleucine concentration" ], "gold_answer": "Abnormal CSF isoleucine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02184", "question": "What is associated with Bartter syndrome?", "seeds": [ "Bartter syndrome" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02185", "question": "What is associated with Absent epiphysis of the middle phalanx of the 2nd finger?", "seeds": [ "Absent epiphysis of the middle phalanx of the 2nd finger" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02186", "question": "What phenotype is associated with Thrombotic thrombocytopenic purpura, hereditary?", "seeds": [ "Thrombotic thrombocytopenic purpura, hereditary" ], "gold_answer": "Confusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02187", "question": "What is associated with Lumbosacral meningocele?", "seeds": [ "Lumbosacral meningocele" ], "gold_answer": "Abnormal lumbar spine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02188", "question": "What phenotype is associated with Atrial fibrillation, familial, 7?", "seeds": [ "Atrial fibrillation, familial, 7" ], "gold_answer": "Paroxysmal atrial fibrillation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02189", "question": "What is associated with Ceroid lipofuscinosis, neuronal, 8?", "seeds": [ "Ceroid lipofuscinosis, neuronal, 8" ], "gold_answer": "Inability to walk", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02190", "question": "What is associated with Compression-fractured vertebra?", "seeds": [ "Compression-fractured vertebra" ], "gold_answer": "Fractured vertebra", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02191", "question": "What is associated with Fascial dystrophy, congenital?", "seeds": [ "Fascial dystrophy, congenital" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02192", "question": "What is associated with Overlapping fingers?", "seeds": [ "Overlapping fingers" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02193", "question": "What is associated with Fetal barbiturate exposure?", "seeds": [ "Fetal barbiturate exposure" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02194", "question": "What is associated with Retinitis pigmentosa 95?", "seeds": [ "Retinitis pigmentosa 95" ], "gold_answer": "Abnormal retinal pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02195", "question": "What is associated with Unicoronal synostosis?", "seeds": [ "Unicoronal synostosis" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02196", "question": "What is associated with Xeroderma pigmentosum, group C?", "seeds": [ "Xeroderma pigmentosum, group C" ], "gold_answer": "Melanoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02197", "question": "What is associated with Faciomandibular myoclonus, nocturnal?", "seeds": [ "Faciomandibular myoclonus, nocturnal" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02198", "question": "What is associated with Sclerosis of 4th toe phalanx?", "seeds": [ "Sclerosis of 4th toe phalanx" ], "gold_answer": "Increased bone mineral density", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02199", "question": "What is associated with Normal interictal EEG?", "seeds": [ "Normal interictal EEG" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02200", "question": "What is associated with Synostosis involving bones of the hand?", "seeds": [ "Synostosis involving bones of the hand" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02201", "question": "What phenotype is associated with Isolated humero-radial synostosis?", "seeds": [ "Isolated humero-radial synostosis" ], "gold_answer": "Tarsal synostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02202", "question": "What is associated with Elevated circulating succinylacetone concentration?", "seeds": [ "Elevated circulating succinylacetone concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02203", "question": "What is associated with Decreased RV/TLC ratio?", "seeds": [ "Decreased RV/TLC ratio" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02204", "question": "What phenotype is associated with Pontocerebellar hypoplasia type 4?", "seeds": [ "Pontocerebellar hypoplasia type 4" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02205", "question": "What is associated with Increased circulating interleukin 18 concentration?", "seeds": [ "Increased circulating interleukin 18 concentration" ], "gold_answer": "Abnormal immune serum protein physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02206", "question": "What is associated with Optic nerve gray crescent?", "seeds": [ "Optic nerve gray crescent" ], "gold_answer": "Optic disc pallor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02207", "question": "What is associated with Hoyeraal-Hreidarsson syndrome?", "seeds": [ "Hoyeraal-Hreidarsson syndrome" ], "gold_answer": "DKC1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02208", "question": "What is associated with Abnormal muscle fiber delta sarcoglycan?", "seeds": [ "Abnormal muscle fiber delta sarcoglycan" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02209", "question": "What phenotype is associated with Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies?", "seeds": [ "Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02210", "question": "What is associated with Blepharophimosis, epicanthus inversus, and ptosis?", "seeds": [ "Blepharophimosis, epicanthus inversus, and ptosis" ], "gold_answer": "Abnormality of the pubic hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02211", "question": "What phenotype is associated with Leukemia, acute myelocytic, with polyposis coli and colon cancer?", "seeds": [ "Leukemia, acute myelocytic, with polyposis coli and colon cancer" ], "gold_answer": "Colon cancer", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02212", "question": "What is associated with Triphalangeal thumb?", "seeds": [ "Triphalangeal thumb" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02213", "question": "What phenotype is associated with Autosomal recessive distal osteolysis syndrome?", "seeds": [ "Autosomal recessive distal osteolysis syndrome" ], "gold_answer": "Osteolysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02214", "question": "What is associated with Danubian endemic familial nephropathy?", "seeds": [ "Danubian endemic familial nephropathy" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02215", "question": "What is associated with Sorbitol ingestion?", "seeds": [ "Sorbitol ingestion" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02216", "question": "What is associated with Otitis media, susceptibility to?", "seeds": [ "Otitis media, susceptibility to" ], "gold_answer": "Otitis media", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02217", "question": "What is associated with Alopecia universalis?", "seeds": [ "Alopecia universalis" ], "gold_answer": "Increased blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02218", "question": "What phenotype is associated with Cortical dysplasia, complex, with other brain malformations 11?", "seeds": [ "Cortical dysplasia, complex, with other brain malformations 11" ], "gold_answer": "High, narrow palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02219", "question": "What phenotype is associated with Amyotrophic lateral sclerosis 18?", "seeds": [ "Amyotrophic lateral sclerosis 18" ], "gold_answer": "Weight loss", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02220", "question": "What is associated with Altered location of the longitudinal column in the fibrous sheath?", "seeds": [ "Altered location of the longitudinal column in the fibrous sheath" ], "gold_answer": "Abnormal male germ cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02221", "question": "What phenotype is associated with Glaucoma 1, open angle, P?", "seeds": [ "Glaucoma 1, open angle, P" ], "gold_answer": "Open angle glaucoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02222", "question": "What is associated with Abnormality of the epiphysis of the 1st metatarsal?", "seeds": [ "Abnormality of the epiphysis of the 1st metatarsal" ], "gold_answer": "Abnormality of the epiphyses of the hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02223", "question": "What is associated with Familial steroid-resistant nephrotic syndrome with adrenal insufficiency?", "seeds": [ "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency" ], "gold_answer": "SGPL1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02224", "question": "What is associated with Migraine with or without aura, susceptibility to, 12?", "seeds": [ "Migraine with or without aura, susceptibility to, 12" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02225", "question": "What is associated with Peritoneal mesothelioma?", "seeds": [ "Peritoneal mesothelioma" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02226", "question": "What is associated with Lack of gonadotropin-releasing hormone pulsatility?", "seeds": [ "Lack of gonadotropin-releasing hormone pulsatility" ], "gold_answer": "Abnormal gonadotropin-releasing hormone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02227", "question": "What is associated with Irregular epiphysis of the distal phalanx of the 4th finger?", "seeds": [ "Irregular epiphysis of the distal phalanx of the 4th finger" ], "gold_answer": "Abnormal 4th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02228", "question": "What is associated with Complete duplication of the distal phalanx of the 3rd toe?", "seeds": [ "Complete duplication of the distal phalanx of the 3rd toe" ], "gold_answer": "Duplication of phalanx of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02229", "question": "What phenotype is associated with Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome?", "seeds": [ "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome" ], "gold_answer": "Anterior hypopituitarism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02230", "question": "What is associated with Drug-induced anaphylaxis?", "seeds": [ "Drug-induced anaphylaxis" ], "gold_answer": "Anaphylactic shock", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02231", "question": "What is associated with Atrial standstill?", "seeds": [ "Atrial standstill" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02232", "question": "What is associated with Abnormal gastrointestinal tract morphology?", "seeds": [ "Abnormal gastrointestinal tract morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02233", "question": "What is associated with Elevated serum-ascites albumin gradient (SAAG)?", "seeds": [ "Elevated serum-ascites albumin gradient (SAAG)" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02234", "question": "What is associated with Chordoma?", "seeds": [ "Chordoma" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02235", "question": "What is associated with Transient pulmonary infiltrates?", "seeds": [ "Transient pulmonary infiltrates" ], "gold_answer": "Pulmonary infiltrates", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02236", "question": "What is associated with Chromosome 17p13.1 deletion syndrome?", "seeds": [ "Chromosome 17p13.1 deletion syndrome" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02237", "question": "What is associated with Abnormal visual field test?", "seeds": [ "Abnormal visual field test" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02238", "question": "What is associated with Monophalangy of great toe?", "seeds": [ "Monophalangy of great toe" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02239", "question": "What is associated with Arthrogryposis multiplex congenita with whistling face?", "seeds": [ "Arthrogryposis multiplex congenita with whistling face" ], "gold_answer": "Abnormality of mouth shape", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02240", "question": "What is associated with CNS foam cells?", "seeds": [ "CNS foam cells" ], "gold_answer": "Arteriosclerosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02241", "question": "What phenotype is associated with PAGOD syndrome?", "seeds": [ "PAGOD syndrome" ], "gold_answer": "Abnormality of the uterus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02242", "question": "What is associated with Abnormality of the umbilical cord?", "seeds": [ "Abnormality of the umbilical cord" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02243", "question": "What is associated with Maldevelopment of radioulnar joint?", "seeds": [ "Maldevelopment of radioulnar joint" ], "gold_answer": "Abnormal forearm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02244", "question": "What is associated with Abnormal sweat electrolytes?", "seeds": [ "Abnormal sweat electrolytes" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02245", "question": "What is associated with Alternating exotropia?", "seeds": [ "Alternating exotropia" ], "gold_answer": "Exodeviation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02246", "question": "What is associated with Fingernail dysplasia?", "seeds": [ "Fingernail dysplasia" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02247", "question": "What is associated with Hypertrophic nerve changes?", "seeds": [ "Hypertrophic nerve changes" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02248", "question": "What is associated with Rectoureteral fistula?", "seeds": [ "Rectoureteral fistula" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02249", "question": "What is associated with Late-onset combined immunodeficiency due to ICOSL deficiency?", "seeds": [ "Late-onset combined immunodeficiency due to ICOSL deficiency" ], "gold_answer": "ICOSLG", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02250", "question": "What is associated with Bor-Duane hydrocephalus contiguous gene syndrome?", "seeds": [ "Bor-Duane hydrocephalus contiguous gene syndrome" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02251", "question": "What phenotype is associated with Benign chronic pemphigus?", "seeds": [ "Benign chronic pemphigus" ], "gold_answer": "Erythema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02252", "question": "What is associated with Fragmentation of the epiphysis of the distal phalanx of the 3rd finger?", "seeds": [ "Fragmentation of the epiphysis of the distal phalanx of the 3rd finger" ], "gold_answer": "Abnormal distal phalanx morphology of finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02253", "question": "What is associated with Focal hyperkinetic seizure?", "seeds": [ "Focal hyperkinetic seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02254", "question": "What is associated with Erythromelalgia?", "seeds": [ "Erythromelalgia" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02255", "question": "What is associated with Retroperitoneal mass?", "seeds": [ "Retroperitoneal mass" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02256", "question": "What is associated with Neonatal electro-clinical motor seizure?", "seeds": [ "Neonatal electro-clinical motor seizure" ], "gold_answer": "Neonatal seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02257", "question": "What is associated with Triangular epiphyses of the thumb?", "seeds": [ "Triangular epiphyses of the thumb" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02258", "question": "What is associated with Focal impaired awareness cognitive seizure with anomia?", "seeds": [ "Focal impaired awareness cognitive seizure with anomia" ], "gold_answer": "Focal cognitive seizure with anomia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02259", "question": "What phenotype is associated with Intellectual developmental disorder with short stature, facial anomalies, and speech defects?", "seeds": [ "Intellectual developmental disorder with short stature, facial anomalies, and speech defects" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02260", "question": "What is associated with Deafness, congenital neurosensory, autosomal recessive 40?", "seeds": [ "Deafness, congenital neurosensory, autosomal recessive 40" ], "gold_answer": "Childhood onset sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02261", "question": "What phenotype is associated with Megalencephalic leukoencephalopathy with subcortical cysts 2A?", "seeds": [ "Megalencephalic leukoencephalopathy with subcortical cysts 2A" ], "gold_answer": "Megalencephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02262", "question": "What is associated with Oblique fracture?", "seeds": [ "Oblique fracture" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02263", "question": "What is associated with Growth hormone insensitivity, partial?", "seeds": [ "Growth hormone insensitivity, partial" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02264", "question": "What is associated with Thin lower lip vermilion?", "seeds": [ "Thin lower lip vermilion" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02265", "question": "What is associated with Premature delivery because of cervical insufficiency or membrane fragility?", "seeds": [ "Premature delivery because of cervical insufficiency or membrane fragility" ], "gold_answer": "Premature birth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02266", "question": "What is associated with Adermatoglyphia?", "seeds": [ "Adermatoglyphia" ], "gold_answer": "Abnormal dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02267", "question": "What is associated with Impaired growth-hormone response to insulin stimulation test?", "seeds": [ "Impaired growth-hormone response to insulin stimulation test" ], "gold_answer": "Abnormal response to insulin tolerance test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02268", "question": "What is associated with Unilateral vestibular schwannoma?", "seeds": [ "Unilateral vestibular schwannoma" ], "gold_answer": "Abnormal cranial nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02269", "question": "What is associated with Intoeing?", "seeds": [ "Intoeing" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02270", "question": "What is associated with Spastic paraplegia 61, autosomal recessive?", "seeds": [ "Spastic paraplegia 61, autosomal recessive" ], "gold_answer": "Proximal hyperreflexia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02271", "question": "What is associated with Abnormal pigmentation of the oral mucosa?", "seeds": [ "Abnormal pigmentation of the oral mucosa" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02272", "question": "What is associated with Exudative vitreoretinopathy 5?", "seeds": [ "Exudative vitreoretinopathy 5" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02273", "question": "What is associated with Attention deficit hyperactivity disorder?", "seeds": [ "Attention deficit hyperactivity disorder" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02274", "question": "What is associated with Subglottic stenosis?", "seeds": [ "Subglottic stenosis" ], "gold_answer": "Abnormality of the larynx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02275", "question": "What is associated with Absent hallux?", "seeds": [ "Absent hallux" ], "gold_answer": "Aplasia/Hypoplasia of the hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02276", "question": "What is associated with Absent epiphysis of the 1st metatarsal?", "seeds": [ "Absent epiphysis of the 1st metatarsal" ], "gold_answer": "Abnormality of the epiphysis of the 1st metatarsal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02277", "question": "What is associated with Congenital contracture?", "seeds": [ "Congenital contracture" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02278", "question": "What is associated with Bronchial diverticula?", "seeds": [ "Bronchial diverticula" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02279", "question": "What is associated with Proximal placement of thumb?", "seeds": [ "Proximal placement of thumb" ], "gold_answer": "Deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02280", "question": "What is associated with Radius, aplasia of, with cleft lip/palate?", "seeds": [ "Radius, aplasia of, with cleft lip/palate" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02281", "question": "What is associated with Aminopterin/methotrexate embryofetopathy?", "seeds": [ "Aminopterin/methotrexate embryofetopathy" ], "gold_answer": "Abnormality of the periorbital region", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02282", "question": "What is associated with Renal potassium wasting?", "seeds": [ "Renal potassium wasting" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02283", "question": "What is associated with Near esotropia?", "seeds": [ "Near esotropia" ], "gold_answer": "Esotropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02284", "question": "What is associated with Usher syndrome type 1?", "seeds": [ "Usher syndrome type 1" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02285", "question": "What is associated with Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay?", "seeds": [ "Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay" ], "gold_answer": "Abnormal metatarsal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02286", "question": "What is associated with Slowed slurred speech?", "seeds": [ "Slowed slurred speech" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02287", "question": "What is associated with Narrow philtrum?", "seeds": [ "Narrow philtrum" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02288", "question": "What is associated with Ivory epiphyses of the 5th toe?", "seeds": [ "Ivory epiphyses of the 5th toe" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02289", "question": "What is associated with Subarterial ventricular septal defect?", "seeds": [ "Subarterial ventricular septal defect" ], "gold_answer": "Abnormal ventricular septum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02290", "question": "What is associated with Double depressor palsy?", "seeds": [ "Double depressor palsy" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02291", "question": "What is associated with Palmoplantar location?", "seeds": [ "Palmoplantar location" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02292", "question": "What phenotype is associated with Deafness, autosomal dominant nonsyndromic sensorineural 11?", "seeds": [ "Deafness, autosomal dominant nonsyndromic sensorineural 11" ], "gold_answer": "Bilateral sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02293", "question": "What is associated with Genetic anticipation with paternal anticipation bias?", "seeds": [ "Genetic anticipation with paternal anticipation bias" ], "gold_answer": "Genetic anticipation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02294", "question": "What is associated with Sleep onset rapid eye movement period?", "seeds": [ "Sleep onset rapid eye movement period" ], "gold_answer": "Abnormal rapid eye movement sleep", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02295", "question": "What is associated with Spermatogenic failure 78?", "seeds": [ "Spermatogenic failure 78" ], "gold_answer": "Abnormal sperm head morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02296", "question": "What phenotype is associated with NUT midline carcinoma?", "seeds": [ "NUT midline carcinoma" ], "gold_answer": "Pancreatoblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02297", "question": "What is associated with Tetraploidy syndrome?", "seeds": [ "Tetraploidy syndrome" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02298", "question": "What is associated with Fragmentation of the epiphyses of the hallux?", "seeds": [ "Fragmentation of the epiphyses of the hallux" ], "gold_answer": "Abnormality of the epiphyses of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02299", "question": "What is associated with Very long chain fatty acid accumulation?", "seeds": [ "Very long chain fatty acid accumulation" ], "gold_answer": "Abnormal tissue metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02300", "question": "What is associated with Onychogryphosis of toenails?", "seeds": [ "Onychogryphosis of toenails" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02301", "question": "What phenotype is associated with Respiratory distress syndrome in premature infants?", "seeds": [ "Respiratory distress syndrome in premature infants" ], "gold_answer": "Pulmonary edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02302", "question": "What is associated with Abnormal morphology of erythroid progenitor cell?", "seeds": [ "Abnormal morphology of erythroid progenitor cell" ], "gold_answer": "Abnormal bone marrow cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02303", "question": "What is associated with Crigler-Najjar syndrome, type II?", "seeds": [ "Crigler-Najjar syndrome, type II" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02304", "question": "What is associated with Blepharochalasis, superior?", "seeds": [ "Blepharochalasis, superior" ], "gold_answer": "Periorbital edema", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02305", "question": "What is associated with Aplasia of the proximal phalanx of the hallux?", "seeds": [ "Aplasia of the proximal phalanx of the hallux" ], "gold_answer": "Aplasia of the phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02306", "question": "What is associated with Absent dermal elastic fibers?", "seeds": [ "Absent dermal elastic fibers" ], "gold_answer": "Abnormal cutaneous elastic fiber morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02307", "question": "What is associated with Endometriosis?", "seeds": [ "Endometriosis" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02308", "question": "What is associated with Metabolic ketoacidosis?", "seeds": [ "Metabolic ketoacidosis" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02309", "question": "What is associated with Silent hypoxemia?", "seeds": [ "Silent hypoxemia" ], "gold_answer": "Hypoxemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02310", "question": "What phenotype is associated with Deafness, autosomal recessive 101?", "seeds": [ "Deafness, autosomal recessive 101" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02311", "question": "What is associated with Flexural reticulate hyperpigmentation?", "seeds": [ "Flexural reticulate hyperpigmentation" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02312", "question": "What is associated with Amyloidosis, primary localized cutaneous, 3?", "seeds": [ "Amyloidosis, primary localized cutaneous, 3" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02313", "question": "What is associated with Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian)?", "seeds": [ "Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian)" ], "gold_answer": "Heterotropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02314", "question": "What is associated with Ameliorated by thiamine?", "seeds": [ "Ameliorated by thiamine" ], "gold_answer": "Ameliorated by", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02315", "question": "What is associated with Persistent pupillary membrane?", "seeds": [ "Persistent pupillary membrane" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02316", "question": "What is associated with Epidermolysis bullosa simplex with mottled pigmentation?", "seeds": [ "Epidermolysis bullosa simplex with mottled pigmentation" ], "gold_answer": "Fragile skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02317", "question": "What is associated with Anti-GAD65 antibody?", "seeds": [ "Anti-GAD65 antibody" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02318", "question": "What is associated with Decreased RV/TLC ratio?", "seeds": [ "Decreased RV/TLC ratio" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02319", "question": "What is associated with Syringomyelia?", "seeds": [ "Syringomyelia" ], "gold_answer": "Spinal cord lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02320", "question": "What is associated with Reduced OCT-measured macular thickness?", "seeds": [ "Reduced OCT-measured macular thickness" ], "gold_answer": "Abnormal OCT-measured macular thickness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02321", "question": "What is associated with Mesangial microfibril deposition?", "seeds": [ "Mesangial microfibril deposition" ], "gold_answer": "Mesangial fibril deposition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02322", "question": "What is associated with Duplication of the proximal phalanx of the 2nd finger?", "seeds": [ "Duplication of the proximal phalanx of the 2nd finger" ], "gold_answer": "Duplication of hand bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02323", "question": "What is associated with Jung syndrome?", "seeds": [ "Jung syndrome" ], "gold_answer": "Abnormality of the posterior hairline", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02324", "question": "What is associated with Proximal lower limb muscle weakness?", "seeds": [ "Proximal lower limb muscle weakness" ], "gold_answer": "Limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02325", "question": "What is associated with Vogt-Koyanagi-Harada disease?", "seeds": [ "Vogt-Koyanagi-Harada disease" ], "gold_answer": "Nausea and vomiting", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02326", "question": "What is associated with Leber congenital amaurosis 10?", "seeds": [ "Leber congenital amaurosis 10" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02327", "question": "What is associated with Increased sialylation of N-linked protein glycosylation?", "seeds": [ "Increased sialylation of N-linked protein glycosylation" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02328", "question": "What is associated with Temporomandibular arthritis?", "seeds": [ "Temporomandibular arthritis" ], "gold_answer": "Arthritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02329", "question": "What is associated with Abnormal leukocyte physiology?", "seeds": [ "Abnormal leukocyte physiology" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02330", "question": "What is associated with Beta-alaninuria?", "seeds": [ "Beta-alaninuria" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02331", "question": "What is associated with Increased inflammatory response?", "seeds": [ "Increased inflammatory response" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02332", "question": "What is associated with Prominence of the zygomatic bone?", "seeds": [ "Prominence of the zygomatic bone" ], "gold_answer": "Abnormal zygomatic bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02333", "question": "What is associated with Abnormal pituitary stalk morphology?", "seeds": [ "Abnormal pituitary stalk morphology" ], "gold_answer": "Abnormality of the hypothalamus-pituitary axis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02334", "question": "What phenotype is associated with Branchial arch syndrome, X-linked?", "seeds": [ "Branchial arch syndrome, X-linked" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02335", "question": "What is associated with Aplasia of the 3rd metacarpal?", "seeds": [ "Aplasia of the 3rd metacarpal" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02336", "question": "What is associated with Shoulder labrum tear?", "seeds": [ "Shoulder labrum tear" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02337", "question": "What is associated with Functional abnormality of male internal genitalia?", "seeds": [ "Functional abnormality of male internal genitalia" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02338", "question": "What is associated with Abnormal fetal skeletal morphology?", "seeds": [ "Abnormal fetal skeletal morphology" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02339", "question": "What is associated with Generalized bone demineralization?", "seeds": [ "Generalized bone demineralization" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02340", "question": "What phenotype is associated with Hemoglobin E-beta-thalassemia syndrome?", "seeds": [ "Hemoglobin E-beta-thalassemia syndrome" ], "gold_answer": "Increased circulating ferritin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02341", "question": "What is associated with Autosomal recessive myosin storage myopathy?", "seeds": [ "Autosomal recessive myosin storage myopathy" ], "gold_answer": "MYH7", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02342", "question": "What is associated with Prominent nasal septum?", "seeds": [ "Prominent nasal septum" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02343", "question": "What is associated with Apneic episodes in infancy?", "seeds": [ "Apneic episodes in infancy" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02344", "question": "What is associated with Growth arrest lines?", "seeds": [ "Growth arrest lines" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02345", "question": "What is associated with Leukocyte migration defect?", "seeds": [ "Leukocyte migration defect" ], "gold_answer": "Abnormal leukocyte physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02346", "question": "What is associated with Weak grip?", "seeds": [ "Weak grip" ], "gold_answer": "Hand muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02347", "question": "What is associated with Deafness, autosomal dominant 40?", "seeds": [ "Deafness, autosomal dominant 40" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02348", "question": "What is associated with Autosomal dominant brachyolmia?", "seeds": [ "Autosomal dominant brachyolmia" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02349", "question": "What is associated with Parietal bossing?", "seeds": [ "Parietal bossing" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02350", "question": "What is associated with Sertoli cell hypoplasia?", "seeds": [ "Sertoli cell hypoplasia" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02351", "question": "What is associated with Glioblastoma multiforme?", "seeds": [ "Glioblastoma multiforme" ], "gold_answer": "Abnormal glial cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02352", "question": "What is associated with Coenzyme Q10 deficiency, primary, 1?", "seeds": [ "Coenzyme Q10 deficiency, primary, 1" ], "gold_answer": "Abnormal hepatobiliary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02353", "question": "What is associated with Infantile dystonia-parkinsonism?", "seeds": [ "Infantile dystonia-parkinsonism" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02354", "question": "What is associated with EEG with generalized epileptiform discharges?", "seeds": [ "EEG with generalized epileptiform discharges" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02355", "question": "What is associated with Abnormal morphology of the limbic system?", "seeds": [ "Abnormal morphology of the limbic system" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02356", "question": "What is associated with Pyruvate dehydrogenase E2 deficiency?", "seeds": [ "Pyruvate dehydrogenase E2 deficiency" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02357", "question": "What is associated with Acute myeloid leukemia with t(6;9)(p23;q34)?", "seeds": [ "Acute myeloid leukemia with t(6;9)(p23;q34)" ], "gold_answer": "NUP214", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_02358", "question": "What is associated with Spondyloepiphyseal dysplasia tarda, autosomal recessive?", "seeds": [ "Spondyloepiphyseal dysplasia tarda, autosomal recessive" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02359", "question": "What is associated with Intermittent hyperpnea at rest?", "seeds": [ "Intermittent hyperpnea at rest" ], "gold_answer": "Hyperventilation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02360", "question": "What is associated with Benign cephalic histiocytosis?", "seeds": [ "Benign cephalic histiocytosis" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02361", "question": "What is associated with Ovarian serous cystadenoma?", "seeds": [ "Ovarian serous cystadenoma" ], "gold_answer": "Abnormal ovarian morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02362", "question": "What phenotype is associated with Neurodevelopmental disorder with central and peripheral motor dysfunction?", "seeds": [ "Neurodevelopmental disorder with central and peripheral motor dysfunction" ], "gold_answer": "Neonatal respiratory distress", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02363", "question": "What phenotype is associated with Weyers ulnar ray/oligodactyly syndrome?", "seeds": [ "Weyers ulnar ray/oligodactyly syndrome" ], "gold_answer": "Finger aplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02364", "question": "What is associated with Hypoplastic fetal nasal bone?", "seeds": [ "Hypoplastic fetal nasal bone" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02365", "question": "What phenotype is associated with FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3?", "seeds": [ "FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02366", "question": "What is associated with Low self-esteem?", "seeds": [ "Low self-esteem" ], "gold_answer": "Disorder of thought content", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02367", "question": "What is associated with Fundus albipunctatus?", "seeds": [ "Fundus albipunctatus" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02368", "question": "What is associated with HNRNPA1-related adult-onset distal myopathy?", "seeds": [ "HNRNPA1-related adult-onset distal myopathy" ], "gold_answer": "Hand muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02369", "question": "What is associated with Broad alveolar ridges?", "seeds": [ "Broad alveolar ridges" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02370", "question": "What is associated with Adrenogenital syndrome?", "seeds": [ "Adrenogenital syndrome" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02371", "question": "What is associated with Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency?", "seeds": [ "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02372", "question": "What is associated with Albinism, oculocutaneous, type IB?", "seeds": [ "Albinism, oculocutaneous, type IB" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02373", "question": "What is associated with Breakthrough pain?", "seeds": [ "Breakthrough pain" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02374", "question": "What is associated with Anti-insulin antibody positivity?", "seeds": [ "Anti-insulin antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02375", "question": "What phenotype is associated with Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis?", "seeds": [ "Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" ], "gold_answer": "Decreased circulating IgG concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02376", "question": "What is associated with Incomplete male pseudohermaphroditism?", "seeds": [ "Incomplete male pseudohermaphroditism" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02377", "question": "What is associated with Sinoatrial node dysfunction and deafness?", "seeds": [ "Sinoatrial node dysfunction and deafness" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02378", "question": "What phenotype is associated with X-linked centronuclear myopathy?", "seeds": [ "X-linked centronuclear myopathy" ], "gold_answer": "Feeding difficulties in infancy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02379", "question": "What is associated with Large for gestational age?", "seeds": [ "Large for gestational age" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02380", "question": "What is associated with Astigmatism?", "seeds": [ "Astigmatism" ], "gold_answer": "Abnormality of the curvature of the cornea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02381", "question": "What is associated with Aplasia of the uterus?", "seeds": [ "Aplasia of the uterus" ], "gold_answer": "Abnormality of the uterus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02382", "question": "What is associated with Interlobular septal thickening?", "seeds": [ "Interlobular septal thickening" ], "gold_answer": "Pulmonary interstitial high-resolution computed tomography abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02383", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked syndromic, Raymond type?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic, Raymond type" ], "gold_answer": "Joint contracture of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02384", "question": "What phenotype is associated with Hypomelia with mullerian duct anomalies?", "seeds": [ "Hypomelia with mullerian duct anomalies" ], "gold_answer": "Uterus didelphys", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02385", "question": "What is associated with Leukemia, chronic myeloid?", "seeds": [ "Leukemia, chronic myeloid" ], "gold_answer": "Decreased circulating alkaline phosphatase activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02386", "question": "What is associated with Stiff elbow?", "seeds": [ "Stiff elbow" ], "gold_answer": "Joint stiffness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02387", "question": "What is associated with Increased CD8+ T cell proportion?", "seeds": [ "Increased CD8+ T cell proportion" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02388", "question": "What is associated with Abnormal inner ear morphology?", "seeds": [ "Abnormal inner ear morphology" ], "gold_answer": "Abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02389", "question": "What phenotype is associated with Spastic paralysis, infantile-onset ascending?", "seeds": [ "Spastic paralysis, infantile-onset ascending" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02390", "question": "What is associated with Fingerprint body myopathy?", "seeds": [ "Fingerprint body myopathy" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02391", "question": "What is associated with Levator-Medial rectus synkinesis?", "seeds": [ "Levator-Medial rectus synkinesis" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02392", "question": "What is associated with Twisted gallbladder pedicle?", "seeds": [ "Twisted gallbladder pedicle" ], "gold_answer": "Abnormal gallbladder morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02393", "question": "What is associated with Abetalipoproteinemia?", "seeds": [ "Abetalipoproteinemia" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02394", "question": "What is associated with Abnormal mandible coronoid process morphology?", "seeds": [ "Abnormal mandible coronoid process morphology" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02395", "question": "What is associated with Acute tubulointerstitial nephritis?", "seeds": [ "Acute tubulointerstitial nephritis" ], "gold_answer": "Abnormal tubulointerstitial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02396", "question": "What is associated with Elevated urinary adipic acid?", "seeds": [ "Elevated urinary adipic acid" ], "gold_answer": "Dicarboxylic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02397", "question": "What is associated with Macular dystrophy, vitelliform, 1?", "seeds": [ "Macular dystrophy, vitelliform, 1" ], "gold_answer": "Yellow/white macular lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02398", "question": "What is associated with Uniparental isodisomy?", "seeds": [ "Uniparental isodisomy" ], "gold_answer": "Mode of inheritance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02399", "question": "What phenotype is associated with Tessadori-van Haaften neurodevelopmental syndrome 4?", "seeds": [ "Tessadori-van Haaften neurodevelopmental syndrome 4" ], "gold_answer": "Camptodactyly of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02400", "question": "What is associated with Hyperglycerolemia?", "seeds": [ "Hyperglycerolemia" ], "gold_answer": "Abnormal circulating carbohydrate concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02401", "question": "What phenotype is associated with Elsahy-Waters syndrome?", "seeds": [ "Elsahy-Waters syndrome" ], "gold_answer": "Mandibular prognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02402", "question": "What is associated with Reduced tissue type II iodothyronine deiodinase activity?", "seeds": [ "Reduced tissue type II iodothyronine deiodinase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02403", "question": "What is associated with Cystic medial necrosis?", "seeds": [ "Cystic medial necrosis" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02404", "question": "What is associated with Abnormal peripheral nervous system physiology?", "seeds": [ "Abnormal peripheral nervous system physiology" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02405", "question": "What is associated with Congenital atrioventricular dissociation?", "seeds": [ "Congenital atrioventricular dissociation" ], "gold_answer": "Abnormal atrioventricular conduction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02406", "question": "What is associated with Tracheal calcification?", "seeds": [ "Tracheal calcification" ], "gold_answer": "Ectopic calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02407", "question": "What is associated with Shortened outer dynein arms?", "seeds": [ "Shortened outer dynein arms" ], "gold_answer": "Dynein arm defect of respiratory motile cilia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02408", "question": "What is associated with Symbrachydactyly of hands and feet?", "seeds": [ "Symbrachydactyly of hands and feet" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02409", "question": "What is associated with Abnormal retinal pigmentation?", "seeds": [ "Abnormal retinal pigmentation" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02410", "question": "What is associated with Complete cleft hard palate?", "seeds": [ "Complete cleft hard palate" ], "gold_answer": "Cleft hard palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02411", "question": "What is associated with Prolonged N1 sleep?", "seeds": [ "Prolonged N1 sleep" ], "gold_answer": "Abnormal sleep architecture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02412", "question": "What is associated with Spermatogenic failure 11?", "seeds": [ "Spermatogenic failure 11" ], "gold_answer": "Abnormal spermatogenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02413", "question": "What is associated with Bleeding disorder, platelet-type, 20?", "seeds": [ "Bleeding disorder, platelet-type, 20" ], "gold_answer": "Abnormal platelet count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02414", "question": "What is associated with Pigmented micronodular adrenocortical disease?", "seeds": [ "Pigmented micronodular adrenocortical disease" ], "gold_answer": "Abnormal endocrine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02415", "question": "What is associated with Hypothyroidism due to TSH receptor mutations?", "seeds": [ "Hypothyroidism due to TSH receptor mutations" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02416", "question": "What is associated with Prolonged PR interval?", "seeds": [ "Prolonged PR interval" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02417", "question": "What is associated with Transient decreased circulating total IgG?", "seeds": [ "Transient decreased circulating total IgG" ], "gold_answer": "Decreased circulating IgG concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02418", "question": "What is associated with Abnormal trapezium morphology?", "seeds": [ "Abnormal trapezium morphology" ], "gold_answer": "Abnormal carpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02419", "question": "What is associated with Exaggerated startle response?", "seeds": [ "Exaggerated startle response" ], "gold_answer": "Abnormality of extrapyramidal motor function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02420", "question": "What is associated with Cenani-Lenz syndactyly syndrome?", "seeds": [ "Cenani-Lenz syndactyly syndrome" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02421", "question": "What is associated with Increased anti-plant based food allergen IgE antibody level?", "seeds": [ "Increased anti-plant based food allergen IgE antibody level" ], "gold_answer": "Increased anti-food allergen IgE antibody level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02422", "question": "What is associated with Dot-and-blot retinal hemorrhage?", "seeds": [ "Dot-and-blot retinal hemorrhage" ], "gold_answer": "Intraretinal hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02423", "question": "What is associated with Oocyte/zygote/embryo maturation arrest 20?", "seeds": [ "Oocyte/zygote/embryo maturation arrest 20" ], "gold_answer": "Abnormality of the menstrual cycle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02424", "question": "What is associated with Finger pain?", "seeds": [ "Finger pain" ], "gold_answer": "Upper limb pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02425", "question": "What is associated with Hearing loss-familial salivary gland insensitivity to aldosterone syndrome?", "seeds": [ "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02426", "question": "What is associated with Focal motor seizure?", "seeds": [ "Focal motor seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02427", "question": "What is associated with Elevated fecal pH?", "seeds": [ "Elevated fecal pH" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02428", "question": "What is associated with Pathologic fracture?", "seeds": [ "Pathologic fracture" ], "gold_answer": "Increased susceptibility to fractures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02429", "question": "What is associated with Abnormal mitochondrial shape?", "seeds": [ "Abnormal mitochondrial shape" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02430", "question": "What phenotype is associated with Diarrhea 15, congenital?", "seeds": [ "Diarrhea 15, congenital" ], "gold_answer": "Diarrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02431", "question": "What phenotype is associated with COG5-CDG?", "seeds": [ "COG5-CDG" ], "gold_answer": "Brain imaging abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02432", "question": "What is associated with Tetrasomy 15q26?", "seeds": [ "Tetrasomy 15q26" ], "gold_answer": "Micrognathia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02433", "question": "What is associated with Deafness, neurosensory, autosomal recessive 46?", "seeds": [ "Deafness, neurosensory, autosomal recessive 46" ], "gold_answer": "Profound hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02434", "question": "What is associated with Increased globoside Gb3 level?", "seeds": [ "Increased globoside Gb3 level" ], "gold_answer": "Abnormality of glycolipid metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02435", "question": "What is associated with Multiple exostoses with spastic tetraparesis?", "seeds": [ "Multiple exostoses with spastic tetraparesis" ], "gold_answer": "Tetraparesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02436", "question": "What is associated with Abnormal cognitive process?", "seeds": [ "Abnormal cognitive process" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02437", "question": "What is associated with Calciphylaxis?", "seeds": [ "Calciphylaxis" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02438", "question": "What is associated with Elevated residual volume?", "seeds": [ "Elevated residual volume" ], "gold_answer": "Abnormal residual volume", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02439", "question": "What is associated with Infection following live vaccination?", "seeds": [ "Infection following live vaccination" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02440", "question": "What phenotype is associated with Chronic granulomatous disease 2, autosomal recessive?", "seeds": [ "Chronic granulomatous disease 2, autosomal recessive" ], "gold_answer": "Inflammation of the large intestine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02441", "question": "What is associated with Auricular pit?", "seeds": [ "Auricular pit" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02442", "question": "What is associated with Peritonitis?", "seeds": [ "Peritonitis" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02443", "question": "What is associated with Thickened Descemet membrane?", "seeds": [ "Thickened Descemet membrane" ], "gold_answer": "Abnormal Descemet membrane morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02444", "question": "What phenotype is associated with Pituitary deficiency due to Rathke cleft cysts?", "seeds": [ "Pituitary deficiency due to Rathke cleft cysts" ], "gold_answer": "Increased intracranial pressure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02445", "question": "What is associated with Herniation of intervertebral nuclei?", "seeds": [ "Herniation of intervertebral nuclei" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02446", "question": "What phenotype is associated with Retinitis pigmentosa 24?", "seeds": [ "Retinitis pigmentosa 24" ], "gold_answer": "Rod-cone dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02447", "question": "What is associated with Retinitis pigmentosa 93?", "seeds": [ "Retinitis pigmentosa 93" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02448", "question": "What is associated with Abnormal external ear cartilage morphology?", "seeds": [ "Abnormal external ear cartilage morphology" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02449", "question": "What is associated with Familial generalized lentiginosis?", "seeds": [ "Familial generalized lentiginosis" ], "gold_answer": "SASH1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02450", "question": "What is associated with Abnormal amplitude of dark-adapted dim flash electroretinogram?", "seeds": [ "Abnormal amplitude of dark-adapted dim flash electroretinogram" ], "gold_answer": "Abnormal dark-adapted dim flash electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02451", "question": "What phenotype is associated with Surfactant metabolism dysfunction, pulmonary, 1?", "seeds": [ "Surfactant metabolism dysfunction, pulmonary, 1" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02452", "question": "What is associated with Usher syndrome, type IE?", "seeds": [ "Usher syndrome, type IE" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02453", "question": "What phenotype is associated with Carvajal syndrome?", "seeds": [ "Carvajal syndrome" ], "gold_answer": "Sparse body hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02454", "question": "What is associated with ST segment elevation?", "seeds": [ "ST segment elevation" ], "gold_answer": "Abnormal ST segment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02455", "question": "What is associated with Widow's peak?", "seeds": [ "Widow's peak" ], "gold_answer": "High anterior hairline", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02456", "question": "What is associated with Crowded maxillary incisors?", "seeds": [ "Crowded maxillary incisors" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02457", "question": "What is associated with Abnormal circulating tryptophan concentration?", "seeds": [ "Abnormal circulating tryptophan concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02458", "question": "What is associated with Insect allergy?", "seeds": [ "Insect allergy" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02459", "question": "What is associated with Elevated urinary catecholamine level?", "seeds": [ "Elevated urinary catecholamine level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02460", "question": "What is associated with Patchy sclerosis of the distal phalanx of the 5th toe?", "seeds": [ "Patchy sclerosis of the distal phalanx of the 5th toe" ], "gold_answer": "Sclerosis of distal phalanx of toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02461", "question": "What is associated with Polycystic ovary syndrome 1?", "seeds": [ "Polycystic ovary syndrome 1" ], "gold_answer": "Enlarged ovaries", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02462", "question": "What is associated with Glycogen storage disease due to glucose-6-phosphatase deficiency?", "seeds": [ "Glycogen storage disease due to glucose-6-phosphatase deficiency" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02463", "question": "What is associated with Riddle syndrome?", "seeds": [ "Riddle syndrome" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02464", "question": "What is associated with Decreased size of nerve terminals?", "seeds": [ "Decreased size of nerve terminals" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02465", "question": "What is associated with Branchial anomaly?", "seeds": [ "Branchial anomaly" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02466", "question": "What is associated with Irregular epiphysis of the 1st metacarpal?", "seeds": [ "Irregular epiphysis of the 1st metacarpal" ], "gold_answer": "Irregular epiphyses of the proximal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02467", "question": "What is associated with Bracket epiphyses of the 4th toe?", "seeds": [ "Bracket epiphyses of the 4th toe" ], "gold_answer": "Bracket epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02468", "question": "What is associated with 22q11.2 deletion syndrome?", "seeds": [ "22q11.2 deletion syndrome" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02469", "question": "What is associated with Perifissural pulmonary nodule?", "seeds": [ "Perifissural pulmonary nodule" ], "gold_answer": "Pulmonary nodule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02470", "question": "What is associated with Premature ovarian failure 19?", "seeds": [ "Premature ovarian failure 19" ], "gold_answer": "Abnormal female reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02471", "question": "What is associated with Stickler syndrome, type II?", "seeds": [ "Stickler syndrome, type II" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02472", "question": "What is associated with Cerebral arteriovenous malformation?", "seeds": [ "Cerebral arteriovenous malformation" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02473", "question": "What is associated with Pulmonary Langerhans cell histiocytosis?", "seeds": [ "Pulmonary Langerhans cell histiocytosis" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02474", "question": "What phenotype is associated with Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia?", "seeds": [ "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02475", "question": "What is associated with Abnormality of the epiphysis of the distal phalanx of the hallux?", "seeds": [ "Abnormality of the epiphysis of the distal phalanx of the hallux" ], "gold_answer": "Abnormality of the epiphyses of the hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02476", "question": "What is associated with Tethered cord?", "seeds": [ "Tethered cord" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02477", "question": "What phenotype is associated with Immunodeficiency 40?", "seeds": [ "Immunodeficiency 40" ], "gold_answer": "Dyspareunia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02478", "question": "What is associated with Isolated sedoheptulokinase deficiency?", "seeds": [ "Isolated sedoheptulokinase deficiency" ], "gold_answer": "Fat malabsorption", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02479", "question": "What is associated with Neonatal multifocal clonic seizure?", "seeds": [ "Neonatal multifocal clonic seizure" ], "gold_answer": "Neonatal electro-clinical seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02480", "question": "What is associated with Parotid adenoma?", "seeds": [ "Parotid adenoma" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02481", "question": "What is associated with Exacerbated by pregnancy?", "seeds": [ "Exacerbated by pregnancy" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02482", "question": "What phenotype is associated with Resistance to thyrotropin-releasing hormone syndrome?", "seeds": [ "Resistance to thyrotropin-releasing hormone syndrome" ], "gold_answer": "Maternal autoimmune disease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02483", "question": "What is associated with Anti-La/SS-B antibody positivity?", "seeds": [ "Anti-La/SS-B antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02484", "question": "What is associated with Metaphyseal chondrodysplasia, Jansen type?", "seeds": [ "Metaphyseal chondrodysplasia, Jansen type" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02485", "question": "What is associated with Pyknotic bone marrow neutrophils?", "seeds": [ "Pyknotic bone marrow neutrophils" ], "gold_answer": "Abnormal granulocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02486", "question": "What is associated with Heart block?", "seeds": [ "Heart block" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02487", "question": "What is associated with Elevated circulating dodecanoylcarnitine concentration?", "seeds": [ "Elevated circulating dodecanoylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02488", "question": "What phenotype is associated with Ocular anomalies-axonal neuropathy-developmental delay syndrome?", "seeds": [ "Ocular anomalies-axonal neuropathy-developmental delay syndrome" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02489", "question": "What is associated with TNP03-related limb-girdle muscular dystrophy D2?", "seeds": [ "TNP03-related limb-girdle muscular dystrophy D2" ], "gold_answer": "TNPO3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02490", "question": "What is associated with Thoracolumbar scoliosis?", "seeds": [ "Thoracolumbar scoliosis" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02491", "question": "What is associated with Irregular lymph-node lymphocyte nuclei?", "seeds": [ "Irregular lymph-node lymphocyte nuclei" ], "gold_answer": "Abnormal lymph-node cellular finding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02492", "question": "What is associated with Positive peritoneal fluid bacterial culture?", "seeds": [ "Positive peritoneal fluid bacterial culture" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02493", "question": "What phenotype is associated with Electroencephalographic peculiarity: 14 and 6 per sec. positive spikephenomenon?", "seeds": [ "Electroencephalographic peculiarity: 14 and 6 per sec. positive spikephenomenon" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02494", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies?", "seeds": [ "Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies" ], "gold_answer": "Ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02495", "question": "What phenotype is associated with Hereditary sensory and autonomic neuropathy type 1?", "seeds": [ "Hereditary sensory and autonomic neuropathy type 1" ], "gold_answer": "Distal amyotrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02496", "question": "What phenotype is associated with Osteogenesis imperfecta, type III?", "seeds": [ "Osteogenesis imperfecta, type III" ], "gold_answer": "Bowing of limbs due to multiple fractures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02497", "question": "What phenotype is associated with Short stature, developmental delay, and congenital heart defects?", "seeds": [ "Short stature, developmental delay, and congenital heart defects" ], "gold_answer": "Absent speech", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02498", "question": "What is associated with Wide epiphyses of the upper limbs?", "seeds": [ "Wide epiphyses of the upper limbs" ], "gold_answer": "Enlarged epiphyses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02499", "question": "What is associated with Elevated residual volume?", "seeds": [ "Elevated residual volume" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02500", "question": "What is associated with Seminal vesicle agenesis?", "seeds": [ "Seminal vesicle agenesis" ], "gold_answer": "Abnormal male internal genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02501", "question": "What is associated with Sick sinus syndrome?", "seeds": [ "Sick sinus syndrome" ], "gold_answer": "Heart block", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02502", "question": "What is associated with Abnormal circulating aldolase concentration?", "seeds": [ "Abnormal circulating aldolase concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02503", "question": "What phenotype is associated with Immunodeficiency, common variable, 7?", "seeds": [ "Immunodeficiency, common variable, 7" ], "gold_answer": "Decreased circulating total IgG concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02504", "question": "What is associated with Abnormal spinocerebellar tract morphology?", "seeds": [ "Abnormal spinocerebellar tract morphology" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02505", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2N?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2N" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02506", "question": "What is associated with Vitamin B12-unresponsive methylmalonic acidemia type mut0?", "seeds": [ "Vitamin B12-unresponsive methylmalonic acidemia type mut0" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02507", "question": "What is associated with Sleep-related hypermotor epilepsy?", "seeds": [ "Sleep-related hypermotor epilepsy" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02508", "question": "What is associated with Small yellow/white macular lesion?", "seeds": [ "Small yellow/white macular lesion" ], "gold_answer": "Yellow/white macular lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02509", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" ], "gold_answer": "Abnormal cortical gyration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02510", "question": "What phenotype is associated with Immunodeficiency, common variable, 12?", "seeds": [ "Immunodeficiency, common variable, 12" ], "gold_answer": "Atrophic gastritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02511", "question": "What is associated with Decreased 3-hydroxyisobutyrate dehydrogenase activity?", "seeds": [ "Decreased 3-hydroxyisobutyrate dehydrogenase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02512", "question": "What is associated with Decreased methylmalonyl-CoA mutase activity?", "seeds": [ "Decreased methylmalonyl-CoA mutase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02513", "question": "What is associated with Elbow fracture?", "seeds": [ "Elbow fracture" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02514", "question": "What is associated with Decreased circulating complement C4 concentration?", "seeds": [ "Decreased circulating complement C4 concentration" ], "gold_answer": "Reduced circulating complement concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02515", "question": "What is associated with Aplasia/Hypoplasia affecting the eye?", "seeds": [ "Aplasia/Hypoplasia affecting the eye" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02516", "question": "What is associated with Chorangioma?", "seeds": [ "Chorangioma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02517", "question": "What is associated with Coiled sperm flagella?", "seeds": [ "Coiled sperm flagella" ], "gold_answer": "Abnormal sperm tail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02518", "question": "What phenotype is associated with Adamantinoma?", "seeds": [ "Adamantinoma" ], "gold_answer": "Bone pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02519", "question": "What is associated with Anger?", "seeds": [ "Anger" ], "gold_answer": "Abnormal emotional state", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02520", "question": "What is associated with Progressive spastic paraparesis?", "seeds": [ "Progressive spastic paraparesis" ], "gold_answer": "Lower limb spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02521", "question": "What is associated with Fractured rib?", "seeds": [ "Fractured rib" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02522", "question": "What is associated with Monochromacy?", "seeds": [ "Monochromacy" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02523", "question": "What is associated with Sacral meningocele?", "seeds": [ "Sacral meningocele" ], "gold_answer": "Abnormal sacrum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02524", "question": "What is associated with Bracket epiphyses of the distal phalanges of the hand?", "seeds": [ "Bracket epiphyses of the distal phalanges of the hand" ], "gold_answer": "Abnormal distal phalanx morphology of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02525", "question": "What is associated with Leukemia, chronic lymphocytic?", "seeds": [ "Leukemia, chronic lymphocytic" ], "gold_answer": "Immunodeficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02526", "question": "What is associated with Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome?", "seeds": [ "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02527", "question": "What is associated with Cartilage destruction?", "seeds": [ "Cartilage destruction" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02528", "question": "What is associated with Glomerular capillary wall duplication without cellular interposition?", "seeds": [ "Glomerular capillary wall duplication without cellular interposition" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02529", "question": "What is associated with Anti-SEZ6L2 antibody?", "seeds": [ "Anti-SEZ6L2 antibody" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02530", "question": "What is associated with Developmental and epileptic encephalopathy 112?", "seeds": [ "Developmental and epileptic encephalopathy 112" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02531", "question": "What is associated with ACERULOPLASMINEMIA?", "seeds": [ "ACERULOPLASMINEMIA" ], "gold_answer": "Abnormal basal ganglia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02532", "question": "What is associated with Ataxia with myoclonic epilepsy and presenile dementia?", "seeds": [ "Ataxia with myoclonic epilepsy and presenile dementia" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02533", "question": "What is associated with Neoplasm of the middle ear?", "seeds": [ "Neoplasm of the middle ear" ], "gold_answer": "Abnormality of the ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02534", "question": "What is associated with Cortical radial artery intima/media arteriosclerosis?", "seeds": [ "Cortical radial artery intima/media arteriosclerosis" ], "gold_answer": "Abnormal cortical radial artery intima/media morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02535", "question": "What is associated with Severe intellectual disability?", "seeds": [ "Severe intellectual disability" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02536", "question": "What is associated with Unilateral facial palsy?", "seeds": [ "Unilateral facial palsy" ], "gold_answer": "Facial palsy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02537", "question": "What phenotype is associated with Hallux varus-preaxial polysyndactyly syndrome?", "seeds": [ "Hallux varus-preaxial polysyndactyly syndrome" ], "gold_answer": "Sandal gap", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02538", "question": "What is associated with Increased level of gamma-aminobutyric acid in urine?", "seeds": [ "Increased level of gamma-aminobutyric acid in urine" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02539", "question": "What is associated with Impaired memory B cell generation?", "seeds": [ "Impaired memory B cell generation" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02540", "question": "What is associated with Epileptic encephalopathy, early infantile, 31?", "seeds": [ "Epileptic encephalopathy, early infantile, 31" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02541", "question": "What phenotype is associated with Congenital disorder of glycosylation, type Ii?", "seeds": [ "Congenital disorder of glycosylation, type Ii" ], "gold_answer": "Focal T2 hyperintense basal ganglia lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02542", "question": "What is associated with Minicore myopathy with external ophthalmoplegia?", "seeds": [ "Minicore myopathy with external ophthalmoplegia" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02543", "question": "What is associated with Placenta accreta?", "seeds": [ "Placenta accreta" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02544", "question": "What is associated with Dysequilibrium syndrome?", "seeds": [ "Dysequilibrium syndrome" ], "gold_answer": "ATP8A2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02545", "question": "What is associated with Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome?", "seeds": [ "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02546", "question": "What is associated with Abnormal macroscopic urine appearance?", "seeds": [ "Abnormal macroscopic urine appearance" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02547", "question": "What phenotype is associated with Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency?", "seeds": [ "Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" ], "gold_answer": "Polyneuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02548", "question": "What is associated with Fallopian tube mass?", "seeds": [ "Fallopian tube mass" ], "gold_answer": "Abnormal fallopian tube morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02549", "question": "What is associated with Acne inversa, familial, 2, with or without dowling-degos disease?", "seeds": [ "Acne inversa, familial, 2, with or without dowling-degos disease" ], "gold_answer": "Cutaneous abscess", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02550", "question": "What is associated with Trigonocephaly 1?", "seeds": [ "Trigonocephaly 1" ], "gold_answer": "Facial hypertrichosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02551", "question": "What is associated with Supracardiac total anomalous pulmonary venous connection?", "seeds": [ "Supracardiac total anomalous pulmonary venous connection" ], "gold_answer": "Abnormal pulmonary vein morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02552", "question": "What phenotype is associated with Megalencephalic leukoencephalopathy with subcortical cysts 2A?", "seeds": [ "Megalencephalic leukoencephalopathy with subcortical cysts 2A" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02553", "question": "What is associated with Curved hallux phalanx?", "seeds": [ "Curved hallux phalanx" ], "gold_answer": "Abnormal hallux phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02554", "question": "What is associated with Parkinson disease 19a, juvenile-onset?", "seeds": [ "Parkinson disease 19a, juvenile-onset" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02555", "question": "What is associated with N syndrome?", "seeds": [ "N syndrome" ], "gold_answer": "Abnormality of the urethra", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02556", "question": "What is associated with Abnormal middle ear morphology?", "seeds": [ "Abnormal middle ear morphology" ], "gold_answer": "Abnormality of the ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02557", "question": "What is associated with Dystonia 26, myoclonic?", "seeds": [ "Dystonia 26, myoclonic" ], "gold_answer": "Abnormal eyelid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02558", "question": "What is associated with Bulbar palsy?", "seeds": [ "Bulbar palsy" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02559", "question": "What is associated with Elevated circulating reverse T3 concentration?", "seeds": [ "Elevated circulating reverse T3 concentration" ], "gold_answer": "Abnormal circulating thyroid hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02560", "question": "What is associated with Knee extension contracture?", "seeds": [ "Knee extension contracture" ], "gold_answer": "Abnormal knee morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02561", "question": "What is associated with Decreased body fat percentage?", "seeds": [ "Decreased body fat percentage" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02562", "question": "What is associated with Broad toe?", "seeds": [ "Broad toe" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02563", "question": "What is associated with Otitis externa?", "seeds": [ "Otitis externa" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02564", "question": "What is associated with Exudative vitreoretinopathy 5?", "seeds": [ "Exudative vitreoretinopathy 5" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02565", "question": "What is associated with Decreased circulating IgG subclass concentration?", "seeds": [ "Decreased circulating IgG subclass concentration" ], "gold_answer": "Decreased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02566", "question": "What is associated with Immunodeficiency 112?", "seeds": [ "Immunodeficiency 112" ], "gold_answer": "Abnormal total T cell count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02567", "question": "What phenotype is associated with Cystic fibrosis, modifier of, 1?", "seeds": [ "Cystic fibrosis, modifier of, 1" ], "gold_answer": "Chronic diarrhea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02568", "question": "What is associated with Fragmentation of the epiphyses of the 2nd toe?", "seeds": [ "Fragmentation of the epiphyses of the 2nd toe" ], "gold_answer": "Fragmentation of the epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02569", "question": "What is associated with Thought broadcasting?", "seeds": [ "Thought broadcasting" ], "gold_answer": "Disorder of thought control", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02570", "question": "What phenotype is associated with Alveolar echinococcosis?", "seeds": [ "Alveolar echinococcosis" ], "gold_answer": "Bipedal edema", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02571", "question": "What is associated with Frontonasal dysplasia 3?", "seeds": [ "Frontonasal dysplasia 3" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02572", "question": "What is associated with Myofibrillar myopathy 10?", "seeds": [ "Myofibrillar myopathy 10" ], "gold_answer": "Exercise intolerance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02573", "question": "What is associated with Autosomal dominant spastic paraplegia type 80?", "seeds": [ "Autosomal dominant spastic paraplegia type 80" ], "gold_answer": "UBAP1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02574", "question": "What is associated with Triggered by fasting?", "seeds": [ "Triggered by fasting" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02575", "question": "What is associated with Ciliary dyskinesia, primary, 46?", "seeds": [ "Ciliary dyskinesia, primary, 46" ], "gold_answer": "Abnormal bronchus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02576", "question": "What is associated with Agenesis of mandibular premolar?", "seeds": [ "Agenesis of mandibular premolar" ], "gold_answer": "Abnormality of premolar", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02577", "question": "What is associated with Scalp nodule?", "seeds": [ "Scalp nodule" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02578", "question": "What phenotype is associated with Deafness, neurosensory, autosomal recessive 3?", "seeds": [ "Deafness, neurosensory, autosomal recessive 3" ], "gold_answer": "Profound sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02579", "question": "What is associated with Melanoma, cutaneous malignant, susceptibility to, 3?", "seeds": [ "Melanoma, cutaneous malignant, susceptibility to, 3" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02580", "question": "What phenotype is associated with MPI-CDG?", "seeds": [ "MPI-CDG" ], "gold_answer": "Diarrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02581", "question": "What phenotype is associated with Alstrom syndrome?", "seeds": [ "Alstrom syndrome" ], "gold_answer": "Hyperostosis frontalis interna", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02582", "question": "What is associated with Disproportionate tall stature?", "seeds": [ "Disproportionate tall stature" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02583", "question": "What phenotype is associated with Hemolytic anemia due to red cell pyruvate kinase deficiency?", "seeds": [ "Hemolytic anemia due to red cell pyruvate kinase deficiency" ], "gold_answer": "Small for gestational age", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02584", "question": "What is associated with Lack of germinal center mitotic figures?", "seeds": [ "Lack of germinal center mitotic figures" ], "gold_answer": "Abnormal lymph-node follicle architecture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02585", "question": "What is associated with CSF pleocytosis?", "seeds": [ "CSF pleocytosis" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02586", "question": "What is associated with Posterior column ataxia?", "seeds": [ "Posterior column ataxia" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02587", "question": "What is associated with Abnormal tubular basement membrane morphology?", "seeds": [ "Abnormal tubular basement membrane morphology" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02588", "question": "What is associated with Triceps areflexia?", "seeds": [ "Triceps areflexia" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02589", "question": "What phenotype is associated with Mayer-Rokitansky-Kuster-Hauser syndrome?", "seeds": [ "Mayer-Rokitansky-Kuster-Hauser syndrome" ], "gold_answer": "Renal cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02590", "question": "What is associated with Adducted thumb?", "seeds": [ "Adducted thumb" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02591", "question": "What is associated with Hypocalcemic vitamin D-dependent rickets?", "seeds": [ "Hypocalcemic vitamin D-dependent rickets" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02592", "question": "What is associated with Nephropathy?", "seeds": [ "Nephropathy" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02593", "question": "What is associated with Periosteal thickening of long tubular bones?", "seeds": [ "Periosteal thickening of long tubular bones" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02594", "question": "What is associated with Intrahepatic bile duct cysts?", "seeds": [ "Intrahepatic bile duct cysts" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02595", "question": "What is associated with Internal carotid artery dissection?", "seeds": [ "Internal carotid artery dissection" ], "gold_answer": "Abnormal carotid artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02596", "question": "What is associated with Pelvic girdle muscle weakness?", "seeds": [ "Pelvic girdle muscle weakness" ], "gold_answer": "Limb-girdle muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02597", "question": "What is associated with Ackerman syndrome?", "seeds": [ "Ackerman syndrome" ], "gold_answer": "Abnormal dental root morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02598", "question": "What is associated with Extension of hair growth on temples to lateral eyebrow?", "seeds": [ "Extension of hair growth on temples to lateral eyebrow" ], "gold_answer": "Abnormality of the frontal hairline", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02599", "question": "What is associated with Early-onset parkinsonism-intellectual disability syndrome?", "seeds": [ "Early-onset parkinsonism-intellectual disability syndrome" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02600", "question": "What is associated with Tangential speech?", "seeds": [ "Tangential speech" ], "gold_answer": "Abnormal lexical patterns", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02601", "question": "What phenotype is associated with Amelogenesis imperfecta, type IIIC?", "seeds": [ "Amelogenesis imperfecta, type IIIC" ], "gold_answer": "Anterior open-bite malocclusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02602", "question": "What is associated with Brachydactyly, type A6?", "seeds": [ "Brachydactyly, type A6" ], "gold_answer": "Aplasia/hypoplasia involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02603", "question": "What is associated with Isolated absence/hypoplasia of fingers excluding thumb, unilateral?", "seeds": [ "Isolated absence/hypoplasia of fingers excluding thumb, unilateral" ], "gold_answer": "Abnormality of the distal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02604", "question": "What is associated with Pseudohypoaldosteronism, type IIB?", "seeds": [ "Pseudohypoaldosteronism, type IIB" ], "gold_answer": "Hyperchloremic acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02605", "question": "What is associated with Langerhans cell histiocytosis?", "seeds": [ "Langerhans cell histiocytosis" ], "gold_answer": "NRAS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_02606", "question": "What is associated with Increased urinary glycerol?", "seeds": [ "Increased urinary glycerol" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02607", "question": "What is associated with Interatrial communication?", "seeds": [ "Interatrial communication" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02608", "question": "What is associated with Elevated circulating beta-glucuronidase activity?", "seeds": [ "Elevated circulating beta-glucuronidase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02609", "question": "What is associated with Silica dust exposure?", "seeds": [ "Silica dust exposure" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02610", "question": "What is associated with F12-related hereditary angioedema with normal C1Inh?", "seeds": [ "F12-related hereditary angioedema with normal C1Inh" ], "gold_answer": "F12", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_train_02611", "question": "What is associated with Elevated CSF dihydrouracil concentration?", "seeds": [ "Elevated CSF dihydrouracil concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02612", "question": "What is associated with Curved thumb phalanx?", "seeds": [ "Curved thumb phalanx" ], "gold_answer": "Curved fingers", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02613", "question": "What is associated with Focal segmental glomerulosclerosis 8?", "seeds": [ "Focal segmental glomerulosclerosis 8" ], "gold_answer": "Chronic kidney disease", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02614", "question": "What is associated with T-wave inversion?", "seeds": [ "T-wave inversion" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02615", "question": "What is associated with Non-convulsive status epilepticus with coma?", "seeds": [ "Non-convulsive status epilepticus with coma" ], "gold_answer": "Status epilepticus without prominent motor symptoms", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02616", "question": "What is associated with Foveoschisis?", "seeds": [ "Foveoschisis" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02617", "question": "What is associated with Abnormal male germ cell morphology?", "seeds": [ "Abnormal male germ cell morphology" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02618", "question": "What is associated with Osteoarthritis of the elbow?", "seeds": [ "Osteoarthritis of the elbow" ], "gold_answer": "Abnormality of upper limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02619", "question": "What is associated with Factor VIII deficiency?", "seeds": [ "Factor VIII deficiency" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02620", "question": "What is associated with Alacrima, achalasia, and impaired intellectual development syndrome?", "seeds": [ "Alacrima, achalasia, and impaired intellectual development syndrome" ], "gold_answer": "Abnormal upper lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02621", "question": "What is associated with Abnormality of body weight?", "seeds": [ "Abnormality of body weight" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02622", "question": "What is associated with Adenocarcinoma of the colon?", "seeds": [ "Adenocarcinoma of the colon" ], "gold_answer": "Adenocarcinoma of the large intestine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02623", "question": "What is associated with Abnormal circulating hepcidin concentration?", "seeds": [ "Abnormal circulating hepcidin concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02624", "question": "What is associated with Migraine with or without aura, susceptibility to, 1?", "seeds": [ "Migraine with or without aura, susceptibility to, 1" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02625", "question": "What is associated with Oculomotor nerve palsy?", "seeds": [ "Oculomotor nerve palsy" ], "gold_answer": "Ophthalmoparesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02626", "question": "What is associated with Nervous tissue neoplasm?", "seeds": [ "Nervous tissue neoplasm" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02627", "question": "What is associated with Autoimmune polyendocrine syndrome, type II?", "seeds": [ "Autoimmune polyendocrine syndrome, type II" ], "gold_answer": "TNFAIP3", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_02628", "question": "What is associated with Combined immunodeficiency due to ZAP70 deficiency?", "seeds": [ "Combined immunodeficiency due to ZAP70 deficiency" ], "gold_answer": "Opportunistic infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02629", "question": "What is associated with Enlarged hippocampus?", "seeds": [ "Enlarged hippocampus" ], "gold_answer": "Abnormal hippocampus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02630", "question": "What is associated with Left posterior fascicular block?", "seeds": [ "Left posterior fascicular block" ], "gold_answer": "Heart block", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02631", "question": "What phenotype is associated with Pruritus, hereditary localized?", "seeds": [ "Pruritus, hereditary localized" ], "gold_answer": "Pruritus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02632", "question": "What is associated with Proteasome-associated autoinflammatory syndrome 5?", "seeds": [ "Proteasome-associated autoinflammatory syndrome 5" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02633", "question": "What is associated with Lung fibroma?", "seeds": [ "Lung fibroma" ], "gold_answer": "Neoplasm of the lung", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02634", "question": "What is associated with FINGERS, RELATIVE LENGTH OF?", "seeds": [ "FINGERS, RELATIVE LENGTH OF" ], "gold_answer": "Aplasia/Hypoplasia of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02635", "question": "What is associated with Infantile choroidocerebral calcification syndrome?", "seeds": [ "Infantile choroidocerebral calcification syndrome" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02636", "question": "What is associated with Abnormal circulating carboxylic acid concentration?", "seeds": [ "Abnormal circulating carboxylic acid concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02637", "question": "What is associated with Polyposis, skin pigmentation, alopecia, and fingernail changes?", "seeds": [ "Polyposis, skin pigmentation, alopecia, and fingernail changes" ], "gold_answer": "Malignant gastrointestinal tract tumors", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02638", "question": "What is associated with Focal impaired awareness sensory seizure with gustatory features?", "seeds": [ "Focal impaired awareness sensory seizure with gustatory features" ], "gold_answer": "Focal sensory seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02639", "question": "What is associated with Increased circulating troponin T concentration?", "seeds": [ "Increased circulating troponin T concentration" ], "gold_answer": "Abnormal cardiac test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02640", "question": "What is associated with Neoplasm of the gastrointestinal tract?", "seeds": [ "Neoplasm of the gastrointestinal tract" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02641", "question": "What is associated with Pontocerebellar hypoplasia, type 16?", "seeds": [ "Pontocerebellar hypoplasia, type 16" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02642", "question": "What is associated with Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness?", "seeds": [ "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" ], "gold_answer": "Reduced consciousness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02643", "question": "What is associated with Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts?", "seeds": [ "Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts" ], "gold_answer": "Abnormal enzyme activity in cultured fibroblasts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02644", "question": "What is associated with Pleural cobblestoning?", "seeds": [ "Pleural cobblestoning" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02645", "question": "What is associated with Bulbous tooth?", "seeds": [ "Bulbous tooth" ], "gold_answer": "Abnormal dental morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02646", "question": "What is associated with Intratubular light-chain casts?", "seeds": [ "Intratubular light-chain casts" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02647", "question": "What phenotype is associated with Multiple pterygium-malignant hyperthermia syndrome?", "seeds": [ "Multiple pterygium-malignant hyperthermia syndrome" ], "gold_answer": "Exaggerated cupid's bow", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02648", "question": "What is associated with Epilepsia partialis continua?", "seeds": [ "Epilepsia partialis continua" ], "gold_answer": "Status epilepticus with prominent motor symptoms", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02649", "question": "What is associated with Abnormal arm span?", "seeds": [ "Abnormal arm span" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02650", "question": "What is associated with Limb tremor?", "seeds": [ "Limb tremor" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02651", "question": "What is associated with Spasticity?", "seeds": [ "Spasticity" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02652", "question": "What is associated with Abnormality of circulating fibrinogen?", "seeds": [ "Abnormality of circulating fibrinogen" ], "gold_answer": "Abnormality of the common coagulation pathway", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02653", "question": "What is associated with Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration?", "seeds": [ "Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02654", "question": "What is associated with Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II?", "seeds": [ "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02655", "question": "What is associated with Abnormality of the middle phalanx of the 5th toe?", "seeds": [ "Abnormality of the middle phalanx of the 5th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02656", "question": "What is associated with Abnormal cell proliferation?", "seeds": [ "Abnormal cell proliferation" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02657", "question": "What is associated with Microtia?", "seeds": [ "Microtia" ], "gold_answer": "Aplasia/Hypoplasia of the ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02658", "question": "What is associated with Salt craving?", "seeds": [ "Salt craving" ], "gold_answer": "Abnormal consumption behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02659", "question": "What is associated with Hypoplasia of the lower eyelids?", "seeds": [ "Hypoplasia of the lower eyelids" ], "gold_answer": "Aplasia/Hypoplasia of the eyelid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02660", "question": "What is associated with Patchy sclerosis of 5th toe phalanx?", "seeds": [ "Patchy sclerosis of 5th toe phalanx" ], "gold_answer": "Abnormal fifth toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02661", "question": "What is associated with Shortening of all metacarpals?", "seeds": [ "Shortening of all metacarpals" ], "gold_answer": "Short metacarpal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02662", "question": "What phenotype is associated with Phosphoenolpyruvate carboxykinase deficiency, cytosolic?", "seeds": [ "Phosphoenolpyruvate carboxykinase deficiency, cytosolic" ], "gold_answer": "Hepatic steatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02663", "question": "What is associated with Frontolimbic dementia?", "seeds": [ "Frontolimbic dementia" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02664", "question": "What is associated with Binucleated visceral epithelial cells?", "seeds": [ "Binucleated visceral epithelial cells" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02665", "question": "What is associated with ASPARTYLGLUCOSAMINURIA?", "seeds": [ "ASPARTYLGLUCOSAMINURIA" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02666", "question": "What is associated with Asymmetric blood pressure between legs?", "seeds": [ "Asymmetric blood pressure between legs" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02667", "question": "What is associated with Truncus arteriosus?", "seeds": [ "Truncus arteriosus" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02668", "question": "What is associated with Feather allergy?", "seeds": [ "Feather allergy" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02669", "question": "What is associated with Eversion of lateral third of lower eyelids?", "seeds": [ "Eversion of lateral third of lower eyelids" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02670", "question": "What is associated with Focal impaired awareness non-motor seizure?", "seeds": [ "Focal impaired awareness non-motor seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02671", "question": "What phenotype is associated with Diabetes mellitus, insulin-dependent, 6?", "seeds": [ "Diabetes mellitus, insulin-dependent, 6" ], "gold_answer": "Diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02672", "question": "What phenotype is associated with Meningioma, familial, susceptibility to?", "seeds": [ "Meningioma, familial, susceptibility to" ], "gold_answer": "Trigeminal neuralgia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02673", "question": "What is associated with Galactose intolerance?", "seeds": [ "Galactose intolerance" ], "gold_answer": "Abnormal metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02674", "question": "What is associated with Reduced erythrocyte hexokinase activity?", "seeds": [ "Reduced erythrocyte hexokinase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02675", "question": "What is associated with Syringomyelia, isolated?", "seeds": [ "Syringomyelia, isolated" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02676", "question": "What is associated with EEG with photoparoxysmal response grade III?", "seeds": [ "EEG with photoparoxysmal response grade III" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02677", "question": "What is associated with Venular insufficiency, systemic?", "seeds": [ "Venular insufficiency, systemic" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02678", "question": "What is associated with Lethargy?", "seeds": [ "Lethargy" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02679", "question": "What is associated with Pharyngalgia?", "seeds": [ "Pharyngalgia" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02680", "question": "What is associated with Retinal dystrophy with leukodystrophy?", "seeds": [ "Retinal dystrophy with leukodystrophy" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02681", "question": "What is associated with Elevated circulating apolipoprotein B concentration?", "seeds": [ "Elevated circulating apolipoprotein B concentration" ], "gold_answer": "Abnormal circulating apolipoprotein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02682", "question": "What phenotype is associated with Focal segmental glomerulosclerosis 7?", "seeds": [ "Focal segmental glomerulosclerosis 7" ], "gold_answer": "Focal segmental glomerulosclerosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02683", "question": "What is associated with Congenital myopathy 21 with early respiratory failure?", "seeds": [ "Congenital myopathy 21 with early respiratory failure" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02684", "question": "What is associated with Elevated ciculating 5-hydroxymethyluracil concentration?", "seeds": [ "Elevated ciculating 5-hydroxymethyluracil concentration" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02685", "question": "What is associated with Positive carpal Tinel sign?", "seeds": [ "Positive carpal Tinel sign" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02686", "question": "What is associated with Progressive distal muscular atrophy?", "seeds": [ "Progressive distal muscular atrophy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02687", "question": "What is associated with Adrenal hypoplasia, congenital, with absent pituitary luteinizinghormone?", "seeds": [ "Adrenal hypoplasia, congenital, with absent pituitary luteinizinghormone" ], "gold_answer": "Abnormal adrenal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02688", "question": "What is associated with Decreased immunoglobulin level in body fluid?", "seeds": [ "Decreased immunoglobulin level in body fluid" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02689", "question": "What is associated with Exstrophy?", "seeds": [ "Exstrophy" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02690", "question": "What phenotype is associated with C7 deficiency?", "seeds": [ "C7 deficiency" ], "gold_answer": "Decreased circulating complement C7 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02691", "question": "What is associated with Interhemispheric cyst?", "seeds": [ "Interhemispheric cyst" ], "gold_answer": "Abnormal subarachnoid space morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02692", "question": "What is associated with Duplication of phalanx of 2nd finger?", "seeds": [ "Duplication of phalanx of 2nd finger" ], "gold_answer": "Abnormality of the phalanges of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02693", "question": "What phenotype is associated with Angioma serpiginosum, X-linked?", "seeds": [ "Angioma serpiginosum, X-linked" ], "gold_answer": "Sparse hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02694", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 2?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 2" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02695", "question": "What is associated with Tendon rupture?", "seeds": [ "Tendon rupture" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02696", "question": "What is associated with Bardet-Biedl syndrome 5?", "seeds": [ "Bardet-Biedl syndrome 5" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02697", "question": "What is associated with Extreme axis deviation?", "seeds": [ "Extreme axis deviation" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02698", "question": "What is associated with Agammaglobulinemia 2, autosomal recessive?", "seeds": [ "Agammaglobulinemia 2, autosomal recessive" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02699", "question": "What is associated with Elevated circulating ghrelin concentration?", "seeds": [ "Elevated circulating ghrelin concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02700", "question": "What is associated with Endometritis?", "seeds": [ "Endometritis" ], "gold_answer": "Abnormality of the uterus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02701", "question": "What is associated with Interictal epileptiform activity?", "seeds": [ "Interictal epileptiform activity" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02702", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02703", "question": "What is associated with Decreased circulating epinephrine concentration?", "seeds": [ "Decreased circulating epinephrine concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02704", "question": "What phenotype is associated with Schinzel-Giedion syndrome?", "seeds": [ "Schinzel-Giedion syndrome" ], "gold_answer": "Hypsarrhythmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02705", "question": "What is associated with Erythematous macule?", "seeds": [ "Erythematous macule" ], "gold_answer": "Macule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02706", "question": "What is associated with Lopes-Maciel-Rodan syndrome?", "seeds": [ "Lopes-Maciel-Rodan syndrome" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02707", "question": "What is associated with Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test?", "seeds": [ "Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test" ], "gold_answer": "Positive respiratory tract nucleic acid pathogen test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02708", "question": "What is associated with Rieger anomaly?", "seeds": [ "Rieger anomaly" ], "gold_answer": "Hypoplasia of the iris", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02709", "question": "What phenotype is associated with Rudiger syndrome?", "seeds": [ "Rudiger syndrome" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02710", "question": "What is associated with Hypoisoleucinemia?", "seeds": [ "Hypoisoleucinemia" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02711", "question": "What is associated with Abnormal circulating interleukin 21 concentration?", "seeds": [ "Abnormal circulating interleukin 21 concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02712", "question": "What is associated with Distal amyotrophy?", "seeds": [ "Distal amyotrophy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02713", "question": "What is associated with Lower motor neuron syndrome with late-adult onset?", "seeds": [ "Lower motor neuron syndrome with late-adult onset" ], "gold_answer": "Abnormal nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02714", "question": "What is associated with CHD4-related neurodevelopmental disorder?", "seeds": [ "CHD4-related neurodevelopmental disorder" ], "gold_answer": "CHD4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02715", "question": "What is associated with Gerbode ventricular septal defect?", "seeds": [ "Gerbode ventricular septal defect" ], "gold_answer": "Ventricular septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02716", "question": "What is associated with Widened subarachnoid space?", "seeds": [ "Widened subarachnoid space" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02717", "question": "What is associated with Neonatal short-trunk short stature?", "seeds": [ "Neonatal short-trunk short stature" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02718", "question": "What is associated with Alpha-gal allergy?", "seeds": [ "Alpha-gal allergy" ], "gold_answer": "Immunologic hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02719", "question": "What phenotype is associated with 48,XXYY syndrome?", "seeds": [ "48,XXYY syndrome" ], "gold_answer": "Open bite", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02720", "question": "What is associated with Otofaciocervical syndrome?", "seeds": [ "Otofaciocervical syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02721", "question": "What is associated with Positive urine barbiturate test?", "seeds": [ "Positive urine barbiturate test" ], "gold_answer": "Presence of xenobiotic", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02722", "question": "What is associated with Myotonia of the lower limb?", "seeds": [ "Myotonia of the lower limb" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02723", "question": "What is associated with Fetal pyelectasis?", "seeds": [ "Fetal pyelectasis" ], "gold_answer": "Fetal ultrasound soft marker", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02724", "question": "What is associated with Fixated interests?", "seeds": [ "Fixated interests" ], "gold_answer": "Restricted or repetitive behaviors or interests", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02725", "question": "What is associated with Posterior communicating artery aneurysm?", "seeds": [ "Posterior communicating artery aneurysm" ], "gold_answer": "Abnormal cerebral artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02726", "question": "What is associated with Peripheral primitive neuroectodermal neoplasm?", "seeds": [ "Peripheral primitive neuroectodermal neoplasm" ], "gold_answer": "Primitive neuroectodermal tumor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02727", "question": "What phenotype is associated with Cutis laxa, autosomal recessive, type IIIB?", "seeds": [ "Cutis laxa, autosomal recessive, type IIIB" ], "gold_answer": "Hip dislocation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02728", "question": "What is associated with Growth hormone insensitivity, partial?", "seeds": [ "Growth hormone insensitivity, partial" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02729", "question": "What is associated with Femoral artery duplication?", "seeds": [ "Femoral artery duplication" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02730", "question": "What is associated with Aplasia of the phalanges of the toes?", "seeds": [ "Aplasia of the phalanges of the toes" ], "gold_answer": "Aplasia/hypoplasia involving bones of the extremities", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02731", "question": "What is associated with Abnormal galactosidase enyzme activity?", "seeds": [ "Abnormal galactosidase enyzme activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02732", "question": "What phenotype is associated with Spinocerebellar ataxia, autosomal recessive 27?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 27" ], "gold_answer": "Aggressive behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02733", "question": "What is associated with Sacral lipoma?", "seeds": [ "Sacral lipoma" ], "gold_answer": "Spinal lipoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02734", "question": "What is associated with Hypokalemia?", "seeds": [ "Hypokalemia" ], "gold_answer": "Abnormal blood cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02735", "question": "What is associated with Torn oral frenulum?", "seeds": [ "Torn oral frenulum" ], "gold_answer": "Abnormal oral frenulum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02736", "question": "What is associated with Papulovesicular eruption?", "seeds": [ "Papulovesicular eruption" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02737", "question": "What is associated with Hypothyroidism due to deficient transcription factors involved in pituitary development or function?", "seeds": [ "Hypothyroidism due to deficient transcription factors involved in pituitary development or function" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02738", "question": "What is associated with Cervical spinal canal stenosis?", "seeds": [ "Cervical spinal canal stenosis" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02739", "question": "What is associated with Lower limb undergrowth?", "seeds": [ "Lower limb undergrowth" ], "gold_answer": "Aplasia/hypoplasia of the extremities", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02740", "question": "What is associated with Elevated circulating uroporphyrin concentration?", "seeds": [ "Elevated circulating uroporphyrin concentration" ], "gold_answer": "Elevated circulating porphyrin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02741", "question": "What is associated with Alar cleft, isolated?", "seeds": [ "Alar cleft, isolated" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02742", "question": "What is associated with Facial hyperostosis?", "seeds": [ "Facial hyperostosis" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02743", "question": "What is associated with Abnormal OCT-measured macular thickness?", "seeds": [ "Abnormal OCT-measured macular thickness" ], "gold_answer": "Abnormal optical coherence tomography", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02744", "question": "What is associated with Increased airway neuroepithelial bodies?", "seeds": [ "Increased airway neuroepithelial bodies" ], "gold_answer": "Abnormal bronchus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02745", "question": "What is associated with Glomerular endothelial tubuloreticular inclusion?", "seeds": [ "Glomerular endothelial tubuloreticular inclusion" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02746", "question": "What is associated with Abnormal lung lobation?", "seeds": [ "Abnormal lung lobation" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02747", "question": "What is associated with Congenital enterovirus infection?", "seeds": [ "Congenital enterovirus infection" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02748", "question": "What is associated with Short middle phalanx of the 5th toe?", "seeds": [ "Short middle phalanx of the 5th toe" ], "gold_answer": "Abnormality of the middle phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02749", "question": "What is associated with Round spermatid arrest?", "seeds": [ "Round spermatid arrest" ], "gold_answer": "Functional abnormality of male internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02750", "question": "What is associated with Thomsen and Becker disease?", "seeds": [ "Thomsen and Becker disease" ], "gold_answer": "CLCN1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_02751", "question": "What is associated with Skin ulcer?", "seeds": [ "Skin ulcer" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02752", "question": "What is associated with Atypical sensory examination of objects?", "seeds": [ "Atypical sensory examination of objects" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02753", "question": "What is associated with Abnormal nasal dorsum morphology?", "seeds": [ "Abnormal nasal dorsum morphology" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02754", "question": "What is associated with Amyloid deposition by anatomical site?", "seeds": [ "Amyloid deposition by anatomical site" ], "gold_answer": "Amyloid deposition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02755", "question": "What is associated with Abnormal facial shape?", "seeds": [ "Abnormal facial shape" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02756", "question": "What is associated with Decreased methylmalonyl-CoA mutase activity?", "seeds": [ "Decreased methylmalonyl-CoA mutase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02757", "question": "What phenotype is associated with Nabais Sa-de vries syndrome, type 2?", "seeds": [ "Nabais Sa-de vries syndrome, type 2" ], "gold_answer": "Sleep apnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02758", "question": "What is associated with KCNQ2-related developmental and epileptic encephalopathy?", "seeds": [ "KCNQ2-related developmental and epileptic encephalopathy" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02759", "question": "What is associated with Elevated urinary 5-hydroxymethyluracil level?", "seeds": [ "Elevated urinary 5-hydroxymethyluracil level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02760", "question": "What is associated with Patchy sclerosis of the distal phalanx of the 3rd finger?", "seeds": [ "Patchy sclerosis of the distal phalanx of the 3rd finger" ], "gold_answer": "Patchy osteosclerosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02761", "question": "What is associated with Hypoplastic dermoepidermal hemidesmosomes?", "seeds": [ "Hypoplastic dermoepidermal hemidesmosomes" ], "gold_answer": "Abnormal dermoepidermal hemidesmosome morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02762", "question": "What is associated with Eosinophilic ascites?", "seeds": [ "Eosinophilic ascites" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02763", "question": "What phenotype is associated with Combined oxidative phosphorylation deficiency 8?", "seeds": [ "Combined oxidative phosphorylation deficiency 8" ], "gold_answer": "Reduced left ventricular ejection fraction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02764", "question": "What is associated with Decreased specific antibody response to vaccination?", "seeds": [ "Decreased specific antibody response to vaccination" ], "gold_answer": "Decreased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02765", "question": "What is associated with Hematuria, benign familial?", "seeds": [ "Hematuria, benign familial" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02766", "question": "What is associated with Tenesmus?", "seeds": [ "Tenesmus" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02767", "question": "What is associated with Severe constriction of peripheral visual field?", "seeds": [ "Severe constriction of peripheral visual field" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02768", "question": "What is associated with Coronary sinus enlargement?", "seeds": [ "Coronary sinus enlargement" ], "gold_answer": "Abnormal coronary sinus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02769", "question": "What is associated with Ivory epiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Ivory epiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Ivory epiphyses of the 4th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02770", "question": "What is associated with Bowed forearm bones?", "seeds": [ "Bowed forearm bones" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02771", "question": "What phenotype is associated with 13q12.3 microdeletion syndrome?", "seeds": [ "13q12.3 microdeletion syndrome" ], "gold_answer": "Respiratory distress", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02772", "question": "What is associated with Toenail onycholysis?", "seeds": [ "Toenail onycholysis" ], "gold_answer": "Onycholysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02773", "question": "What phenotype is associated with Familial paroxysmal ataxia?", "seeds": [ "Familial paroxysmal ataxia" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02774", "question": "What is associated with Nijmegen breakage syndrome-like disorder?", "seeds": [ "Nijmegen breakage syndrome-like disorder" ], "gold_answer": "Abnormality of chromosome stability", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02775", "question": "What is associated with Tufted angioma?", "seeds": [ "Tufted angioma" ], "gold_answer": "Heterotropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02776", "question": "What phenotype is associated with Wolman disease?", "seeds": [ "Wolman disease" ], "gold_answer": "Vomiting", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02777", "question": "What is associated with Increased urine 4-hydroxy-2-oxoglutarate level?", "seeds": [ "Increased urine 4-hydroxy-2-oxoglutarate level" ], "gold_answer": "Abnormal urine pH", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02778", "question": "What is associated with Osteolytic defects of the proximal phalanx of the hallux?", "seeds": [ "Osteolytic defects of the proximal phalanx of the hallux" ], "gold_answer": "Abnormal morphology of the proximal phalanx of the hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02779", "question": "What is associated with Caroli syndrome?", "seeds": [ "Caroli syndrome" ], "gold_answer": "Renal cyst", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02780", "question": "What is associated with Accessory spleen?", "seeds": [ "Accessory spleen" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02781", "question": "What is associated with Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity?", "seeds": [ "Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02782", "question": "What is associated with Club-shaped proximal femur?", "seeds": [ "Club-shaped proximal femur" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02783", "question": "What phenotype is associated with Microphthalmia, isolated, with coloboma 6?", "seeds": [ "Microphthalmia, isolated, with coloboma 6" ], "gold_answer": "Optic disc hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02784", "question": "What is associated with Anti-neutrophil elastase antibody positivity?", "seeds": [ "Anti-neutrophil elastase antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02785", "question": "What is associated with Typical urticaria pigmentosa?", "seeds": [ "Typical urticaria pigmentosa" ], "gold_answer": "KIT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02786", "question": "What is associated with Microcephaly 14, primary, autosomal recessive?", "seeds": [ "Microcephaly 14, primary, autosomal recessive" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02787", "question": "What is associated with Auditory neuropathy, autosomal dominant, 1?", "seeds": [ "Auditory neuropathy, autosomal dominant, 1" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02788", "question": "What is associated with Ambiguous genitalia, female?", "seeds": [ "Ambiguous genitalia, female" ], "gold_answer": "Abnormal female external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02789", "question": "What is associated with Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies?", "seeds": [ "Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" ], "gold_answer": "Feeding difficulties in infancy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02790", "question": "What is associated with Systemic autoinflammation?", "seeds": [ "Systemic autoinflammation" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02791", "question": "What is associated with Olivopontocerebellar hypoplasia?", "seeds": [ "Olivopontocerebellar hypoplasia" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02792", "question": "What is associated with Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)?", "seeds": [ "Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)" ], "gold_answer": "Peripheral neuropathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02793", "question": "What is associated with Impairment of activities of daily living?", "seeds": [ "Impairment of activities of daily living" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02794", "question": "What phenotype is associated with Copper deficiency, familial benign?", "seeds": [ "Copper deficiency, familial benign" ], "gold_answer": "Curly hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02795", "question": "What phenotype is associated with Johnson neuroectodermal syndrome?", "seeds": [ "Johnson neuroectodermal syndrome" ], "gold_answer": "Dolichocephaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02796", "question": "What is associated with Absent lacrimal punctum?", "seeds": [ "Absent lacrimal punctum" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02797", "question": "What is associated with Pulmonary hemosiderosis?", "seeds": [ "Pulmonary hemosiderosis" ], "gold_answer": "Abnormal pulmonary interstitial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02798", "question": "What phenotype is associated with Primordial dwarfism-immunodeficiency-lipodystrophy syndrome?", "seeds": [ "Primordial dwarfism-immunodeficiency-lipodystrophy syndrome" ], "gold_answer": "Accessory spleen", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02799", "question": "What is associated with Abnormal naive CD4+ T cell proportion?", "seeds": [ "Abnormal naive CD4+ T cell proportion" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02800", "question": "What is associated with Male urethral meatus stenosis?", "seeds": [ "Male urethral meatus stenosis" ], "gold_answer": "Urethral stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02801", "question": "What is associated with Spondylitis?", "seeds": [ "Spondylitis" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02802", "question": "What is associated with Long thumb?", "seeds": [ "Long thumb" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02803", "question": "What is associated with Colpocephaly?", "seeds": [ "Colpocephaly" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02804", "question": "What is associated with Spastic/hyperactive bladder?", "seeds": [ "Spastic/hyperactive bladder" ], "gold_answer": "Abnormality of the lower urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02805", "question": "What is associated with Spinocerebellar ataxia 13?", "seeds": [ "Spinocerebellar ataxia 13" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02806", "question": "What is associated with Lynch syndrome I?", "seeds": [ "Lynch syndrome I" ], "gold_answer": "Neoplasm of the colon", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02807", "question": "What is associated with Abnormal inferior vena cava morphology?", "seeds": [ "Abnormal inferior vena cava morphology" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02808", "question": "What phenotype is associated with Arterial calcification, generalized, of infancy, 2?", "seeds": [ "Arterial calcification, generalized, of infancy, 2" ], "gold_answer": "Orthopnea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02809", "question": "What is associated with Libman-Sacks lesions?", "seeds": [ "Libman-Sacks lesions" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02810", "question": "What is associated with Abnormal circulating carnosine concentration?", "seeds": [ "Abnormal circulating carnosine concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02811", "question": "What is associated with Pseudoepiphysis of the middle phalanx of the 5th finger?", "seeds": [ "Pseudoepiphysis of the middle phalanx of the 5th finger" ], "gold_answer": "Pseudoepiphyses of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02812", "question": "What is associated with Extrapulmonary tuberculosis?", "seeds": [ "Extrapulmonary tuberculosis" ], "gold_answer": "Opportunistic infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02813", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 23?", "seeds": [ "Intellectual developmental disorder, X-linked 23" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02814", "question": "What is associated with Parotitis?", "seeds": [ "Parotitis" ], "gold_answer": "Abnormal salivary gland morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02815", "question": "What is associated with Decreased circulating chenodeoxycholic acid concentration?", "seeds": [ "Decreased circulating chenodeoxycholic acid concentration" ], "gold_answer": "Decreased serum bile acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02816", "question": "What phenotype is associated with Pediatric systemic lupus erythematosus?", "seeds": [ "Pediatric systemic lupus erythematosus" ], "gold_answer": "Nephrotic syndrome", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02817", "question": "What phenotype is associated with Rubinstein-Taybi syndrome due to CREBBP mutations?", "seeds": [ "Rubinstein-Taybi syndrome due to CREBBP mutations" ], "gold_answer": "Abnormality of the posterior cranial fossa", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02818", "question": "What is associated with Spondyloepimetaphyseal dysplasia, Shohat type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, Shohat type" ], "gold_answer": "Aplasia/Hypoplasia involving the pelvis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02819", "question": "What phenotype is associated with Choroidal dystrophy, central areolar 3?", "seeds": [ "Choroidal dystrophy, central areolar 3" ], "gold_answer": "Drusen", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02820", "question": "What is associated with Short middle phalanx of the 4th toe?", "seeds": [ "Short middle phalanx of the 4th toe" ], "gold_answer": "Short phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02821", "question": "What is associated with Abnormal doll's eye reflex?", "seeds": [ "Abnormal doll's eye reflex" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02822", "question": "What is associated with Absent epiphysis of the middle phalanx of the 5th toe?", "seeds": [ "Absent epiphysis of the middle phalanx of the 5th toe" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02823", "question": "What is associated with Episodic pain syndrome, familial, 1?", "seeds": [ "Episodic pain syndrome, familial, 1" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02824", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2S?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2S" ], "gold_answer": "Talipes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02825", "question": "What is associated with Perilobar nephrogenic rest?", "seeds": [ "Perilobar nephrogenic rest" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02826", "question": "What is associated with PEHO-like syndrome?", "seeds": [ "PEHO-like syndrome" ], "gold_answer": "CCDC88A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_02827", "question": "What is associated with Acrodermatitis enteropathica?", "seeds": [ "Acrodermatitis enteropathica" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02828", "question": "What is associated with Optic pathway glioma?", "seeds": [ "Optic pathway glioma" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02829", "question": "What is associated with Persistent falcine venous sinus?", "seeds": [ "Persistent falcine venous sinus" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02830", "question": "What is associated with Increased hemoglobin oxygen affinity?", "seeds": [ "Increased hemoglobin oxygen affinity" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02831", "question": "What phenotype is associated with Epidermolysis bullosa simplex with mottled pigmentation?", "seeds": [ "Epidermolysis bullosa simplex with mottled pigmentation" ], "gold_answer": "Oral mucosal blisters", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02832", "question": "What is associated with Agnathia-Otocephaly complex?", "seeds": [ "Agnathia-Otocephaly complex" ], "gold_answer": "Atrial septal defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02833", "question": "What is associated with Adult hepatocellular carcinoma?", "seeds": [ "Adult hepatocellular carcinoma" ], "gold_answer": "EGF", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_02834", "question": "What is associated with Delayed ossification of the clavicle?", "seeds": [ "Delayed ossification of the clavicle" ], "gold_answer": "Abnormal clavicle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02835", "question": "What is associated with Thyroid carcinoma?", "seeds": [ "Thyroid carcinoma" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02836", "question": "What is associated with Yellow nail syndrome?", "seeds": [ "Yellow nail syndrome" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02837", "question": "What is associated with HYDROXYPROLINEMIA?", "seeds": [ "HYDROXYPROLINEMIA" ], "gold_answer": "Hematuria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02838", "question": "What is associated with Low 10-minute APGAR score?", "seeds": [ "Low 10-minute APGAR score" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02839", "question": "What is associated with Hypoplastic left ventricle?", "seeds": [ "Hypoplastic left ventricle" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02840", "question": "What is associated with Developmental cataract?", "seeds": [ "Developmental cataract" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02841", "question": "What is associated with Spherocytosis?", "seeds": [ "Spherocytosis" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02842", "question": "What is associated with Elevated circulating C-terminal telopeptide cross-link of type1 collagen concentration?", "seeds": [ "Elevated circulating C-terminal telopeptide cross-link of type1 collagen concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02843", "question": "What is associated with Neurodegeneration with ataxia and late-onset optic atrophy?", "seeds": [ "Neurodegeneration with ataxia and late-onset optic atrophy" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02844", "question": "What is associated with Dark choroid?", "seeds": [ "Dark choroid" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02845", "question": "What is associated with Osteoarthritis of the distal interphalangeal joint?", "seeds": [ "Osteoarthritis of the distal interphalangeal joint" ], "gold_answer": "Osteoarthritis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02846", "question": "What is associated with Globe retraction and deviation on abduction?", "seeds": [ "Globe retraction and deviation on abduction" ], "gold_answer": "Abnormality of ocular abduction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02847", "question": "What is associated with Dust particle inclusion in alveolar macrophages?", "seeds": [ "Dust particle inclusion in alveolar macrophages" ], "gold_answer": "Abnormal alveolar macrophage morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02848", "question": "What is associated with Centralopathic epilepsy?", "seeds": [ "Centralopathic epilepsy" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02849", "question": "What is associated with Midline brain calcifications?", "seeds": [ "Midline brain calcifications" ], "gold_answer": "Ectopic calcification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02850", "question": "What is associated with Acrogeria?", "seeds": [ "Acrogeria" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02851", "question": "What is associated with Positive Dengue virus PCR test in the blood circulation?", "seeds": [ "Positive Dengue virus PCR test in the blood circulation" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02852", "question": "What phenotype is associated with Glycerol kinase deficiency?", "seeds": [ "Glycerol kinase deficiency" ], "gold_answer": "Chronic pancreatitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02853", "question": "What is associated with Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay?", "seeds": [ "Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02854", "question": "What is associated with Autosomal dominant inheritance?", "seeds": [ "Autosomal dominant inheritance" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02855", "question": "What is associated with Hypotension?", "seeds": [ "Hypotension" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02856", "question": "What is associated with Expanded metacarpals with widened medullary cavities?", "seeds": [ "Expanded metacarpals with widened medullary cavities" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02857", "question": "What is associated with Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome?", "seeds": [ "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome" ], "gold_answer": "Abnormal tongue morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02858", "question": "What is associated with Jessner lymphocytic infiltration of the skin?", "seeds": [ "Jessner lymphocytic infiltration of the skin" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02859", "question": "What is associated with Amplification of relationship seeking?", "seeds": [ "Amplification of relationship seeking" ], "gold_answer": "Abnormal social behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02860", "question": "What is associated with Leukodystrophy, hypomyelinating, 24?", "seeds": [ "Leukodystrophy, hypomyelinating, 24" ], "gold_answer": "Abnormal nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02861", "question": "What is associated with Skin infectious agent?", "seeds": [ "Skin infectious agent" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02862", "question": "What is associated with Peripheral hypermyelination?", "seeds": [ "Peripheral hypermyelination" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02863", "question": "What is associated with Bleeding disorder, platelet-type, 13, susceptibility to?", "seeds": [ "Bleeding disorder, platelet-type, 13, susceptibility to" ], "gold_answer": "Abnormal platelet morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02864", "question": "What is associated with Renovascular hypertension?", "seeds": [ "Renovascular hypertension" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02865", "question": "What is associated with Decreased circulating selenium concentration?", "seeds": [ "Decreased circulating selenium concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02866", "question": "What is associated with Hypopigmentation of the skin?", "seeds": [ "Hypopigmentation of the skin" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02867", "question": "What is associated with Tibialis muscle weakness?", "seeds": [ "Tibialis muscle weakness" ], "gold_answer": "Lower limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02868", "question": "What phenotype is associated with Distal deletion 10p syndrome?", "seeds": [ "Distal deletion 10p syndrome" ], "gold_answer": "Intrauterine growth retardation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02869", "question": "What phenotype is associated with Cleft palate, cardiac defect, genital anomalies, and ectrodactyly?", "seeds": [ "Cleft palate, cardiac defect, genital anomalies, and ectrodactyly" ], "gold_answer": "Macrotia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02870", "question": "What phenotype is associated with Kleefstra syndrome due to 9q34 microdeletion?", "seeds": [ "Kleefstra syndrome due to 9q34 microdeletion" ], "gold_answer": "Cardiomegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02871", "question": "What is associated with Salter V fracture?", "seeds": [ "Salter V fracture" ], "gold_answer": "Fracture type", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02872", "question": "What is associated with Vitamin d-dependent rickets, type 2A?", "seeds": [ "Vitamin d-dependent rickets, type 2A" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02873", "question": "What is associated with Abnormal optic disc vasculature morphology?", "seeds": [ "Abnormal optic disc vasculature morphology" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02874", "question": "What is associated with Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia?", "seeds": [ "Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia" ], "gold_answer": "Focal impaired awareness cognitive seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02875", "question": "What is associated with Hallux pain?", "seeds": [ "Hallux pain" ], "gold_answer": "Limb pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02876", "question": "What is associated with Wrist instability?", "seeds": [ "Wrist instability" ], "gold_answer": "Abnormality of the wrist", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02877", "question": "What is associated with Abnormal gamma-delta T cell proportion?", "seeds": [ "Abnormal gamma-delta T cell proportion" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02878", "question": "What is associated with Papillary renal cell carcinoma type 1?", "seeds": [ "Papillary renal cell carcinoma type 1" ], "gold_answer": "Papillary renal cell carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02879", "question": "What is associated with Benign gastrointestinal tract tumors?", "seeds": [ "Benign gastrointestinal tract tumors" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02880", "question": "What phenotype is associated with Corneal dystrophy, Reis-Bucklers type?", "seeds": [ "Corneal dystrophy, Reis-Bucklers type" ], "gold_answer": "Corneal opacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02881", "question": "What is associated with Aplasia/Hypoplasia of the phalanges of the 4th finger?", "seeds": [ "Aplasia/Hypoplasia of the phalanges of the 4th finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02882", "question": "What is associated with Abnormal CNS myelination?", "seeds": [ "Abnormal CNS myelination" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02883", "question": "What is associated with Lateral canthal tendon laxity?", "seeds": [ "Lateral canthal tendon laxity" ], "gold_answer": "Abnormal eyelid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02884", "question": "What is associated with Triggered by exertion?", "seeds": [ "Triggered by exertion" ], "gold_answer": "Triggered by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02885", "question": "What is associated with Encephalopathy?", "seeds": [ "Encephalopathy" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02886", "question": "What is associated with Sclerosis of the middle phalanx of the 2nd toe?", "seeds": [ "Sclerosis of the middle phalanx of the 2nd toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02887", "question": "What is associated with Myopathic facies?", "seeds": [ "Myopathic facies" ], "gold_answer": "Decreased facial expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02888", "question": "What is associated with Abnormality of the calf?", "seeds": [ "Abnormality of the calf" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02889", "question": "What is associated with Elevated circulating D-dimer concentration?", "seeds": [ "Elevated circulating D-dimer concentration" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02890", "question": "What is associated with Thumb hypoplasia grade 1?", "seeds": [ "Thumb hypoplasia grade 1" ], "gold_answer": "Short finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02891", "question": "What is associated with Idiosyncratic gesture?", "seeds": [ "Idiosyncratic gesture" ], "gold_answer": "Abnormal gesture use", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02892", "question": "What is associated with Dihydrolipoamide dehydrogenase deficiency?", "seeds": [ "Dihydrolipoamide dehydrogenase deficiency" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02893", "question": "What is associated with Avascular necrosis of femoral head, primary, 2?", "seeds": [ "Avascular necrosis of femoral head, primary, 2" ], "gold_answer": "Avascular necrosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02894", "question": "What is associated with Cone-shaped epiphysis of the thumb?", "seeds": [ "Cone-shaped epiphysis of the thumb" ], "gold_answer": "Phalangeal cone-shaped epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02895", "question": "What is associated with Patchy sclerosis of thumb phalanx?", "seeds": [ "Patchy sclerosis of thumb phalanx" ], "gold_answer": "Sclerosis of thumb phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02896", "question": "What is associated with Acinetobacter infection?", "seeds": [ "Acinetobacter infection" ], "gold_answer": "Opportunistic infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02897", "question": "What is associated with Irregular dentition?", "seeds": [ "Irregular dentition" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02898", "question": "What is associated with Inferior oblique muscle underaction?", "seeds": [ "Inferior oblique muscle underaction" ], "gold_answer": "Inferior oblique muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02899", "question": "What is associated with Aplasia/Hypoplasia involving bones of the feet?", "seeds": [ "Aplasia/Hypoplasia involving bones of the feet" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02900", "question": "What is associated with Anti-Th/To antibody positivity?", "seeds": [ "Anti-Th/To antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02901", "question": "What is associated with FUTCHER LINE?", "seeds": [ "FUTCHER LINE" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02902", "question": "What is associated with Abnormality of the epiphyses of the 4th finger?", "seeds": [ "Abnormality of the epiphyses of the 4th finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02903", "question": "What is associated with Curved distal toe phalanx?", "seeds": [ "Curved distal toe phalanx" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02904", "question": "What is associated with Limb-mammary syndrome?", "seeds": [ "Limb-mammary syndrome" ], "gold_answer": "Abnormality of the menstrual cycle", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02905", "question": "What is associated with Aplasia/Hypoplasia of the ulna?", "seeds": [ "Aplasia/Hypoplasia of the ulna" ], "gold_answer": "Aplasia/hypoplasia involving forearm bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02906", "question": "What is associated with Metacarpal synostosis?", "seeds": [ "Metacarpal synostosis" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02907", "question": "What is associated with Late-onset spinocerebellar degeneration?", "seeds": [ "Late-onset spinocerebellar degeneration" ], "gold_answer": "Spinocerebellar tract degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02908", "question": "What is associated with Tricho-dento-osseous syndrome?", "seeds": [ "Tricho-dento-osseous syndrome" ], "gold_answer": "Selective tooth agenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02909", "question": "What is associated with Abnormality of the ocular adnexa?", "seeds": [ "Abnormality of the ocular adnexa" ], "gold_answer": "Abnormality of the orbital region", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02910", "question": "What is associated with Focal sexual automatism seizure?", "seeds": [ "Focal sexual automatism seizure" ], "gold_answer": "Focal motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02911", "question": "What is associated with Perineal?", "seeds": [ "Perineal" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02912", "question": "What is associated with Positive mycobacterium CSF culture?", "seeds": [ "Positive mycobacterium CSF culture" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02913", "question": "What is associated with Testicular teratoma?", "seeds": [ "Testicular teratoma" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02914", "question": "What is associated with Nevus comedonicus, somatic?", "seeds": [ "Nevus comedonicus, somatic" ], "gold_answer": "Nevus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02915", "question": "What is associated with Elevated erythrocyte sedimentation rate?", "seeds": [ "Elevated erythrocyte sedimentation rate" ], "gold_answer": "Acute phase response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02916", "question": "What is associated with Posterior rib cupping?", "seeds": [ "Posterior rib cupping" ], "gold_answer": "Cupped ribs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02917", "question": "What is associated with Duplication of the middle phalanx of the 3rd finger?", "seeds": [ "Duplication of the middle phalanx of the 3rd finger" ], "gold_answer": "Duplication of phalanx of 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02918", "question": "What is associated with Febrile seizures, familial, 6?", "seeds": [ "Febrile seizures, familial, 6" ], "gold_answer": "Infection-related seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02919", "question": "What is associated with Esophageal stricture?", "seeds": [ "Esophageal stricture" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02920", "question": "What is associated with Striatonigral degeneration, childhood-onset?", "seeds": [ "Striatonigral degeneration, childhood-onset" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02921", "question": "What is associated with Sertoli cell-only syndrome?", "seeds": [ "Sertoli cell-only syndrome" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02922", "question": "What is associated with Ohdo syndrome, X-linked?", "seeds": [ "Ohdo syndrome, X-linked" ], "gold_answer": "Aplasia/Hypoplasia of the mandible", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02923", "question": "What is associated with Frontonasal dysplasia 3?", "seeds": [ "Frontonasal dysplasia 3" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02924", "question": "What is associated with Dyssegmental dysplasia, Rolland-Desbuquois type?", "seeds": [ "Dyssegmental dysplasia, Rolland-Desbuquois type" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02925", "question": "What is associated with Renal interstitial foam cells?", "seeds": [ "Renal interstitial foam cells" ], "gold_answer": "Abnormal renal interstitial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02926", "question": "What is associated with Ciliary body coloboma?", "seeds": [ "Ciliary body coloboma" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02927", "question": "What is associated with Elevated urine aconitic acid level?", "seeds": [ "Elevated urine aconitic acid level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02928", "question": "What is associated with Febrile seizure (within the age range of 3 months to 6 years)?", "seeds": [ "Febrile seizure (within the age range of 3 months to 6 years)" ], "gold_answer": "Infection-related seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02929", "question": "What is associated with Left-right disorientation?", "seeds": [ "Left-right disorientation" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02930", "question": "What is associated with Nystagmus, myoclonic?", "seeds": [ "Nystagmus, myoclonic" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02931", "question": "What is associated with Elevated urinary glutarylglycine level?", "seeds": [ "Elevated urinary glutarylglycine level" ], "gold_answer": "Aciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02932", "question": "What is associated with Chronic pulmonary obstruction?", "seeds": [ "Chronic pulmonary obstruction" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02933", "question": "What is associated with High-pitched bowel sounds?", "seeds": [ "High-pitched bowel sounds" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02934", "question": "What is associated with Fetal ultrasound soft marker?", "seeds": [ "Fetal ultrasound soft marker" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02935", "question": "What is associated with Peeling skin syndrome 1?", "seeds": [ "Peeling skin syndrome 1" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02936", "question": "What is associated with Alopecia antibody deficiency?", "seeds": [ "Alopecia antibody deficiency" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02937", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 76?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 76" ], "gold_answer": "Precocious puberty", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02938", "question": "What phenotype is associated with Dentin dysplasia, type II?", "seeds": [ "Dentin dysplasia, type II" ], "gold_answer": "Thistle tube shaped pulp", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02939", "question": "What phenotype is associated with Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor?", "seeds": [ "Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor" ], "gold_answer": "Reduced coagulation factor V activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02940", "question": "What is associated with Abnormal sweat electrolytes?", "seeds": [ "Abnormal sweat electrolytes" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02941", "question": "What is associated with Abolished vibration sense?", "seeds": [ "Abolished vibration sense" ], "gold_answer": "Somatic sensory dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02942", "question": "What is associated with Pink urine?", "seeds": [ "Pink urine" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02943", "question": "What is associated with Altman type III sacrococcygeal teratoma?", "seeds": [ "Altman type III sacrococcygeal teratoma" ], "gold_answer": "Teratoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02944", "question": "What is associated with Calcification of cartilage?", "seeds": [ "Calcification of cartilage" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02945", "question": "What is associated with Anti-Gephyrin antibody?", "seeds": [ "Anti-Gephyrin antibody" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02946", "question": "What is associated with Hypospadias?", "seeds": [ "Hypospadias" ], "gold_answer": "Abnormal male urethral meatus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02947", "question": "What is associated with Neurodevelopmental disorder with ataxia and brain abnormalities?", "seeds": [ "Neurodevelopmental disorder with ataxia and brain abnormalities" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02948", "question": "What is associated with Aganglionosis of the small intestine?", "seeds": [ "Aganglionosis of the small intestine" ], "gold_answer": "Abnormal enteric nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02949", "question": "What is associated with EEM syndrome?", "seeds": [ "EEM syndrome" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02950", "question": "What is associated with Abnormal gesture use?", "seeds": [ "Abnormal gesture use" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02951", "question": "What phenotype is associated with Alzheimer disease 4?", "seeds": [ "Alzheimer disease 4" ], "gold_answer": "Parkinsonism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02952", "question": "What is associated with Male infertility due to large-headed multiflagellar polyploid spermatozoa?", "seeds": [ "Male infertility due to large-headed multiflagellar polyploid spermatozoa" ], "gold_answer": "AKAP3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_02953", "question": "What is associated with Deafness, congenital neurosensory, autosomal recessive 38?", "seeds": [ "Deafness, congenital neurosensory, autosomal recessive 38" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02954", "question": "What is associated with Abnormal muscle fiber alpha dystroglycan?", "seeds": [ "Abnormal muscle fiber alpha dystroglycan" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02955", "question": "What is associated with Late infantile CLN2 disease?", "seeds": [ "Late infantile CLN2 disease" ], "gold_answer": "TPP1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_02956", "question": "What is associated with Abnormal posterior semicircular canal morphology?", "seeds": [ "Abnormal posterior semicircular canal morphology" ], "gold_answer": "Abnormal morphology of the vestibule of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02957", "question": "What is associated with Fibrillary glomerular subepithelial deposits?", "seeds": [ "Fibrillary glomerular subepithelial deposits" ], "gold_answer": "Glomerular subepithelial deposits", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02958", "question": "What is associated with Spermatogenic failure 78?", "seeds": [ "Spermatogenic failure 78" ], "gold_answer": "Abnormal preimplantation embryonic development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02959", "question": "What is associated with Functional abnormality of male internal genitalia?", "seeds": [ "Functional abnormality of male internal genitalia" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02960", "question": "What is associated with Motor deterioration?", "seeds": [ "Motor deterioration" ], "gold_answer": "Cognitive impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02961", "question": "What is associated with Aplasia of the musculature of the pelvis?", "seeds": [ "Aplasia of the musculature of the pelvis" ], "gold_answer": "Aplasia/Hypoplasia of the musculature of the pelvis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02962", "question": "What is associated with Gastric intraepithelial lymphocytosis?", "seeds": [ "Gastric intraepithelial lymphocytosis" ], "gold_answer": "Abnormal stomach morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02963", "question": "What is associated with Lunotriquetral interval widening?", "seeds": [ "Lunotriquetral interval widening" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02964", "question": "What is associated with Temporal pattern?", "seeds": [ "Temporal pattern" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02965", "question": "What is associated with Anomalous muscle bundle of the right ventricle?", "seeds": [ "Anomalous muscle bundle of the right ventricle" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02966", "question": "What is associated with Absent epiphysis of the middle phalanx of the 2nd toe?", "seeds": [ "Absent epiphysis of the middle phalanx of the 2nd toe" ], "gold_answer": "Absent epiphyses of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02967", "question": "What is associated with Glomerular endocapillary hypercellularity?", "seeds": [ "Glomerular endocapillary hypercellularity" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02968", "question": "What is associated with Ophthalmoplegia?", "seeds": [ "Ophthalmoplegia" ], "gold_answer": "Ophthalmoparesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02969", "question": "What phenotype is associated with Symphalangism of toes?", "seeds": [ "Symphalangism of toes" ], "gold_answer": "Toe phalanx synostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02970", "question": "What is associated with Low intraocular pressure?", "seeds": [ "Low intraocular pressure" ], "gold_answer": "Abnormal intraocular pressure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02971", "question": "What is associated with Unilateral facial palsy?", "seeds": [ "Unilateral facial palsy" ], "gold_answer": "Weakness of facial musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02972", "question": "What is associated with Mixed phenotype acute leukemia with t(v;11q23.3)?", "seeds": [ "Mixed phenotype acute leukemia with t(v;11q23.3)" ], "gold_answer": "FLT3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_02973", "question": "What is associated with Aplasia of the distal phalanx of the thumb?", "seeds": [ "Aplasia of the distal phalanx of the thumb" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the thumb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02974", "question": "What is associated with History of recent participation in athletics?", "seeds": [ "History of recent participation in athletics" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02975", "question": "What phenotype is associated with Cohen-Gibson syndrome?", "seeds": [ "Cohen-Gibson syndrome" ], "gold_answer": "Thin nail", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02976", "question": "What is associated with Lipodystrophy due to peptidic growth factors deficiency?", "seeds": [ "Lipodystrophy due to peptidic growth factors deficiency" ], "gold_answer": "Abnormality of subcutaneous fat tissue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02977", "question": "What is associated with Macular pseudohole?", "seeds": [ "Macular pseudohole" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02978", "question": "What is associated with Reduced factor XI activity?", "seeds": [ "Reduced factor XI activity" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02979", "question": "What is associated with Cone-shaped epiphysis of the proximal phalanx of the 3rd finger?", "seeds": [ "Cone-shaped epiphysis of the proximal phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the epiphyses of the proximal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02980", "question": "What is associated with Pseudoepiphysis of the proximal phalanx of the 2nd toe?", "seeds": [ "Pseudoepiphysis of the proximal phalanx of the 2nd toe" ], "gold_answer": "Abnormality of the epiphyses of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02981", "question": "What is associated with Aplasia/Hypoplasia of the proximal phalanx of the thumb?", "seeds": [ "Aplasia/Hypoplasia of the proximal phalanx of the thumb" ], "gold_answer": "Abnormality of thumb phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02982", "question": "What is associated with Akathisia?", "seeds": [ "Akathisia" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02983", "question": "What is associated with Elevated circulating DNAJB9 protein concentration?", "seeds": [ "Elevated circulating DNAJB9 protein concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02984", "question": "What is associated with Arcuate artery endotheliosis?", "seeds": [ "Arcuate artery endotheliosis" ], "gold_answer": "Abnormal arcuate artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02985", "question": "What is associated with Disseminated dermatophytosis?", "seeds": [ "Disseminated dermatophytosis" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02986", "question": "What is associated with Frontonasal dysplasia with alar clefts?", "seeds": [ "Frontonasal dysplasia with alar clefts" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02987", "question": "What is associated with Spastic paraplegia 64, autosomal recessive?", "seeds": [ "Spastic paraplegia 64, autosomal recessive" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02988", "question": "What is associated with Telangiectasia, hereditary hemorrhagic, type 5?", "seeds": [ "Telangiectasia, hereditary hemorrhagic, type 5" ], "gold_answer": "Abnormality of the hepatic vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02989", "question": "What is associated with Wrist pain?", "seeds": [ "Wrist pain" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02990", "question": "What is associated with Thyroid agenesis?", "seeds": [ "Thyroid agenesis" ], "gold_answer": "Abnormal thyroid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02991", "question": "What is associated with Histiocytosis, familial lipochrome?", "seeds": [ "Histiocytosis, familial lipochrome" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02992", "question": "What is associated with Hereditary motor and sensory neuropathy VIA?", "seeds": [ "Hereditary motor and sensory neuropathy VIA" ], "gold_answer": "Sensory neuropathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02993", "question": "What is associated with Aplasia/Hypoplasia of the cerebellar vermis?", "seeds": [ "Aplasia/Hypoplasia of the cerebellar vermis" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02994", "question": "What is associated with Meckel syndrome, type 7?", "seeds": [ "Meckel syndrome, type 7" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_02995", "question": "What is associated with Enlarged peroxisomes?", "seeds": [ "Enlarged peroxisomes" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02996", "question": "What phenotype is associated with Proximal 5th toe symphalangism?", "seeds": [ "Proximal 5th toe symphalangism" ], "gold_answer": "Finger syndactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_02997", "question": "What is associated with Granulomatosis with polyangiitis?", "seeds": [ "Granulomatosis with polyangiitis" ], "gold_answer": "Abnormal platelet count", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_02998", "question": "What is associated with Recurrent bronchopulmonary infections?", "seeds": [ "Recurrent bronchopulmonary infections" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_02999", "question": "What is associated with Abnormal liver lobulation?", "seeds": [ "Abnormal liver lobulation" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03000", "question": "What phenotype is associated with Lelis syndrome?", "seeds": [ "Lelis syndrome" ], "gold_answer": "Exotropia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03001", "question": "What is associated with Elevated CSF guanidinoacetic acid concentration?", "seeds": [ "Elevated CSF guanidinoacetic acid concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03002", "question": "What is associated with Thyrotoxicosis from ectopic thyroid tissue?", "seeds": [ "Thyrotoxicosis from ectopic thyroid tissue" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03003", "question": "What is associated with Low-frequency hearing loss?", "seeds": [ "Low-frequency hearing loss" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03004", "question": "What is associated with Migraine?", "seeds": [ "Migraine" ], "gold_answer": "Headache", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03005", "question": "What is associated with Hypoplasia of mandible relative to maxilla?", "seeds": [ "Hypoplasia of mandible relative to maxilla" ], "gold_answer": "Micrognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03006", "question": "What is associated with Osteolysis of talus?", "seeds": [ "Osteolysis of talus" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03007", "question": "What is associated with Transverse terminal lower limb defect?", "seeds": [ "Transverse terminal lower limb defect" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03008", "question": "What is associated with Abnormal automated kinetic perimetry test?", "seeds": [ "Abnormal automated kinetic perimetry test" ], "gold_answer": "Abnormal kinetic perimetry test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03009", "question": "What is associated with Optic atrophy 2?", "seeds": [ "Optic atrophy 2" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03010", "question": "What is associated with Secondary hypoparathyroidism due to impaired parathormon secretion?", "seeds": [ "Secondary hypoparathyroidism due to impaired parathormon secretion" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03011", "question": "What is associated with Developmental malformations-deafness-dystonia syndrome?", "seeds": [ "Developmental malformations-deafness-dystonia syndrome" ], "gold_answer": "Ineffective esophageal peristalsis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03012", "question": "What is associated with Ankle swelling?", "seeds": [ "Ankle swelling" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03013", "question": "What is associated with Reduced brain gamma-aminobutyric acid level by MRS?", "seeds": [ "Reduced brain gamma-aminobutyric acid level by MRS" ], "gold_answer": "Brain imaging abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03014", "question": "What is associated with Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal?", "seeds": [ "Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal" ], "gold_answer": "Abnormal penis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03015", "question": "What is associated with Abnormality of the curvature of the cornea?", "seeds": [ "Abnormality of the curvature of the cornea" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03016", "question": "What phenotype is associated with Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3?", "seeds": [ "Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3" ], "gold_answer": "Muscle fiber inclusion bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03017", "question": "What is associated with Small placenta?", "seeds": [ "Small placenta" ], "gold_answer": "Abnormal placental size", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03018", "question": "What is associated with Olfactory sensory seeking?", "seeds": [ "Olfactory sensory seeking" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03019", "question": "What is associated with Celiac artery dissection?", "seeds": [ "Celiac artery dissection" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03020", "question": "What is associated with Positive CSF anti-measles antibody test?", "seeds": [ "Positive CSF anti-measles antibody test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03021", "question": "What is associated with Slowly progressive?", "seeds": [ "Slowly progressive" ], "gold_answer": "Progressive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03022", "question": "What is associated with Primary hyperoxaluria type 1?", "seeds": [ "Primary hyperoxaluria type 1" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03023", "question": "What phenotype is associated with Spinocerebellar ataxia, autosomal recessive 7?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 7" ], "gold_answer": "Postural tremor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03024", "question": "What is associated with Anti-Gephyrin antibody?", "seeds": [ "Anti-Gephyrin antibody" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03025", "question": "What is associated with Skin nodule?", "seeds": [ "Skin nodule" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03026", "question": "What phenotype is associated with Vohwinkel syndrome, variant form?", "seeds": [ "Vohwinkel syndrome, variant form" ], "gold_answer": "Hypergranulosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03027", "question": "What is associated with Generalized weakness of limb muscles?", "seeds": [ "Generalized weakness of limb muscles" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03028", "question": "What phenotype is associated with Ichthyosis, split hairs, and amino aciduria?", "seeds": [ "Ichthyosis, split hairs, and amino aciduria" ], "gold_answer": "Corneal erosion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03029", "question": "What phenotype is associated with Floating-Harbor syndrome?", "seeds": [ "Floating-Harbor syndrome" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03030", "question": "What phenotype is associated with Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay?", "seeds": [ "Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay" ], "gold_answer": "Profound global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03031", "question": "What is associated with Decreased corneal reflex?", "seeds": [ "Decreased corneal reflex" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03032", "question": "What is associated with DK1-CDG?", "seeds": [ "DK1-CDG" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03033", "question": "What is associated with Absent microvilli on the surface of peripheral blood lymphocytes?", "seeds": [ "Absent microvilli on the surface of peripheral blood lymphocytes" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03034", "question": "What is associated with Medial calcification of small arteries?", "seeds": [ "Medial calcification of small arteries" ], "gold_answer": "Medial arterial calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03035", "question": "What is associated with Corneal neovascularization?", "seeds": [ "Corneal neovascularization" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03036", "question": "What is associated with Meningitis?", "seeds": [ "Meningitis" ], "gold_answer": "Unusual infection by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03037", "question": "What is associated with Spondyloepimetaphyseal dysplasia, Aggrecan type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, Aggrecan type" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03038", "question": "What is associated with Curved phalanges of the hand?", "seeds": [ "Curved phalanges of the hand" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03039", "question": "What is associated with Linear nevus sebaceus syndrome?", "seeds": [ "Linear nevus sebaceus syndrome" ], "gold_answer": "Abnormal uvea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03040", "question": "What is associated with Fused sternal ossification centers?", "seeds": [ "Fused sternal ossification centers" ], "gold_answer": "Abnormal sternal ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03041", "question": "What is associated with Abnormal best corrected visual acuity test?", "seeds": [ "Abnormal best corrected visual acuity test" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03042", "question": "What is associated with Decreased CSF 5-methyltetrahydrofolate concentration?", "seeds": [ "Decreased CSF 5-methyltetrahydrofolate concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03043", "question": "What is associated with Aplasia of the vagina?", "seeds": [ "Aplasia of the vagina" ], "gold_answer": "Aplasia/Hypoplasia of the vagina", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03044", "question": "What is associated with Traction bronchiolectasis?", "seeds": [ "Traction bronchiolectasis" ], "gold_answer": "Abnormal bronchus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03045", "question": "What is associated with Testicular seminoma?", "seeds": [ "Testicular seminoma" ], "gold_answer": "Testicular neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03046", "question": "What phenotype is associated with Spinocerebellar ataxia 38?", "seeds": [ "Spinocerebellar ataxia 38" ], "gold_answer": "Slow saccadic eye movements", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03047", "question": "What is associated with Multiple pterygia?", "seeds": [ "Multiple pterygia" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03048", "question": "What is associated with 22q11.2 deletion syndrome?", "seeds": [ "22q11.2 deletion syndrome" ], "gold_answer": "Duplication involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03049", "question": "What is associated with Spinal muscular atrophy, type III?", "seeds": [ "Spinal muscular atrophy, type III" ], "gold_answer": "Fasciculations", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03050", "question": "What phenotype is associated with Non-progressive cerebellar ataxia with intellectual disability?", "seeds": [ "Non-progressive cerebellar ataxia with intellectual disability" ], "gold_answer": "Short ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03051", "question": "What is associated with Abnormal level of lymph-node cellular CD19 expression?", "seeds": [ "Abnormal level of lymph-node cellular CD19 expression" ], "gold_answer": "Abnormal lymph-node cellular B-cell marker expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03052", "question": "What phenotype is associated with 19q13.11 microdeletion syndrome?", "seeds": [ "19q13.11 microdeletion syndrome" ], "gold_answer": "Sparse or absent eyelashes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03053", "question": "What is associated with Elevated circulating cholesterol sulfate concentration?", "seeds": [ "Elevated circulating cholesterol sulfate concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03054", "question": "What is associated with Continuous spike and waves during slow sleep?", "seeds": [ "Continuous spike and waves during slow sleep" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03055", "question": "What is associated with Myopathy, sarcoplasmic body?", "seeds": [ "Myopathy, sarcoplasmic body" ], "gold_answer": "Abnormality of facial soft tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03056", "question": "What is associated with Compensated hypothyroidism?", "seeds": [ "Compensated hypothyroidism" ], "gold_answer": "Hypothyroidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03057", "question": "What is associated with Bilateral acute depigmentation of the iris?", "seeds": [ "Bilateral acute depigmentation of the iris" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03058", "question": "What is associated with Bloom syndrome?", "seeds": [ "Bloom syndrome" ], "gold_answer": "Neoplasm of the stomach", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03059", "question": "What is associated with Splenic xanthomatosis?", "seeds": [ "Splenic xanthomatosis" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03060", "question": "What is associated with Spondyloocular syndrome?", "seeds": [ "Spondyloocular syndrome" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03061", "question": "What is associated with Recurrent infections due to specific granule deficiency?", "seeds": [ "Recurrent infections due to specific granule deficiency" ], "gold_answer": "CEBPE", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_03062", "question": "What is associated with Congenital disorder of glycosylation, type IIB?", "seeds": [ "Congenital disorder of glycosylation, type IIB" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03063", "question": "What is associated with Salter IV fracture?", "seeds": [ "Salter IV fracture" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03064", "question": "What is associated with Neurodevelopmental disorder with infantile epileptic spasms?", "seeds": [ "Neurodevelopmental disorder with infantile epileptic spasms" ], "gold_answer": "Esodeviation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03065", "question": "What is associated with Elevated alkaline phosphatase of bone origin?", "seeds": [ "Elevated alkaline phosphatase of bone origin" ], "gold_answer": "Abnormality of alkaline phosphatase level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03066", "question": "What is associated with Immunodeficiency 20?", "seeds": [ "Immunodeficiency 20" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03067", "question": "What is associated with Reduced hepatic glyoxylate reductase activity?", "seeds": [ "Reduced hepatic glyoxylate reductase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03068", "question": "What is associated with Dysplastic iliac wing?", "seeds": [ "Dysplastic iliac wing" ], "gold_answer": "Abnormal hip bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03069", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 64?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 64" ], "gold_answer": "Hyperactivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03070", "question": "What phenotype is associated with Platelet factor 3 deficiency?", "seeds": [ "Platelet factor 3 deficiency" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03071", "question": "What is associated with Bullet-shaped proximal phalanx of the 5th finger?", "seeds": [ "Bullet-shaped proximal phalanx of the 5th finger" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03072", "question": "What is associated with Hyperplasia of the Leydig cells?", "seeds": [ "Hyperplasia of the Leydig cells" ], "gold_answer": "Abnormality of the Leydig cells", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03073", "question": "What is associated with Femur, unilateral bifid, with monodactylous ectrodactyly?", "seeds": [ "Femur, unilateral bifid, with monodactylous ectrodactyly" ], "gold_answer": "Abnormal tibia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03074", "question": "What is associated with Circulating immune complexes?", "seeds": [ "Circulating immune complexes" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03075", "question": "What phenotype is associated with Relapsing polychondritis?", "seeds": [ "Relapsing polychondritis" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03076", "question": "What is associated with Spondyloepimetaphyseal dysplasia?", "seeds": [ "Spondyloepimetaphyseal dysplasia" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03077", "question": "What is associated with Generalized morning stiffness?", "seeds": [ "Generalized morning stiffness" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03078", "question": "What is associated with Decreased red blood cell count?", "seeds": [ "Decreased red blood cell count" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03079", "question": "What is associated with Very preterm birth?", "seeds": [ "Very preterm birth" ], "gold_answer": "Premature birth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03080", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked syndromic, Raymond type?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic, Raymond type" ], "gold_answer": "Arachnodactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03081", "question": "What is associated with Ovarian thecoma?", "seeds": [ "Ovarian thecoma" ], "gold_answer": "Ovarian sex cord-stromal tumor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03082", "question": "What is associated with Takotsubo cardiomyopathy?", "seeds": [ "Takotsubo cardiomyopathy" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03083", "question": "What phenotype is associated with Cone dystrophy 3?", "seeds": [ "Cone dystrophy 3" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03084", "question": "What is associated with Ear pain exacerbated by manipulating tragus or pinna?", "seeds": [ "Ear pain exacerbated by manipulating tragus or pinna" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03085", "question": "What is associated with EPILEPSY-TELANGIECTASIA?", "seeds": [ "EPILEPSY-TELANGIECTASIA" ], "gold_answer": "Facial hypertrichosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03086", "question": "What is associated with Abnormal infraorbital artery morphology?", "seeds": [ "Abnormal infraorbital artery morphology" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03087", "question": "What is associated with Cystic hamartoma of lung and kidney?", "seeds": [ "Cystic hamartoma of lung and kidney" ], "gold_answer": "Renal cyst", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03088", "question": "What is associated with Gastrointestinal granulomatosis?", "seeds": [ "Gastrointestinal granulomatosis" ], "gold_answer": "Abnormal macrophage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03089", "question": "What is associated with Pattern dystrophy of the retina?", "seeds": [ "Pattern dystrophy of the retina" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03090", "question": "What is associated with Cortical diaphyseal thickening of the upper limbs?", "seeds": [ "Cortical diaphyseal thickening of the upper limbs" ], "gold_answer": "Anomaly of the upper limb diaphyses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03091", "question": "What phenotype is associated with 8q12 microduplication syndrome?", "seeds": [ "8q12 microduplication syndrome" ], "gold_answer": "Telecanthus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03092", "question": "What is associated with Objectification of others?", "seeds": [ "Objectification of others" ], "gold_answer": "Abnormal social development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03093", "question": "What phenotype is associated with Cardiac rhabdoid tumor?", "seeds": [ "Cardiac rhabdoid tumor" ], "gold_answer": "Internal hemorrhage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03094", "question": "What is associated with Cardiomyopathy, familial hypertrophic 1?", "seeds": [ "Cardiomyopathy, familial hypertrophic 1" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03095", "question": "What is associated with Extrapyramidal dyskinesia?", "seeds": [ "Extrapyramidal dyskinesia" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03096", "question": "What is associated with Decreased pulmonary fissure count?", "seeds": [ "Decreased pulmonary fissure count" ], "gold_answer": "Abnormal lung development", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03097", "question": "What is associated with Elevated circulating apolipoprotein C-III concentration?", "seeds": [ "Elevated circulating apolipoprotein C-III concentration" ], "gold_answer": "Abnormal circulating apolipoprotein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03098", "question": "What is associated with Idiopathic acute eosinophilic pneumonia?", "seeds": [ "Idiopathic acute eosinophilic pneumonia" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03099", "question": "What is associated with Spinal myoclonus?", "seeds": [ "Spinal myoclonus" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03100", "question": "What is associated with Anti-U11/U12 RNP antibody positivity?", "seeds": [ "Anti-U11/U12 RNP antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03101", "question": "What is associated with Spastic ataxia 3, autosomal recessive?", "seeds": [ "Spastic ataxia 3, autosomal recessive" ], "gold_answer": "Abnormal cerebellar vermis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03102", "question": "What is associated with Agenesis of maxillary lateral incisor?", "seeds": [ "Agenesis of maxillary lateral incisor" ], "gold_answer": "Agenesis of lateral incisor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03103", "question": "What is associated with Hemimacroglossia?", "seeds": [ "Hemimacroglossia" ], "gold_answer": "Macroglossia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03104", "question": "What is associated with Atelencephaly?", "seeds": [ "Atelencephaly" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03105", "question": "What is associated with Exencephaly?", "seeds": [ "Exencephaly" ], "gold_answer": "Abnormal neural tube morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03106", "question": "What is associated with High axial triradius?", "seeds": [ "High axial triradius" ], "gold_answer": "Abnormal skin morphology of the palm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03107", "question": "What phenotype is associated with Retinitis pigmentosa 63?", "seeds": [ "Retinitis pigmentosa 63" ], "gold_answer": "Nyctalopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03108", "question": "What is associated with Gastrointestinal atresia?", "seeds": [ "Gastrointestinal atresia" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03109", "question": "What is associated with Cardiac fibroma?", "seeds": [ "Cardiac fibroma" ], "gold_answer": "Fibroma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03110", "question": "What is associated with Hyperpyrexia?", "seeds": [ "Hyperpyrexia" ], "gold_answer": "Fever", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03111", "question": "What is associated with Intellectual developmental disorder, X-linked, syndromic 32?", "seeds": [ "Intellectual developmental disorder, X-linked, syndromic 32" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03112", "question": "What is associated with Multiple enchondromatosis?", "seeds": [ "Multiple enchondromatosis" ], "gold_answer": "Neoplasm of the skeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03113", "question": "What is associated with Rhomboid or triangular shaped 5th finger proximal phalanx?", "seeds": [ "Rhomboid or triangular shaped 5th finger proximal phalanx" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03114", "question": "What is associated with Hydrolethalus syndrome 1?", "seeds": [ "Hydrolethalus syndrome 1" ], "gold_answer": "Ventriculomegaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03115", "question": "What phenotype is associated with Radio-renal syndrome?", "seeds": [ "Radio-renal syndrome" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03116", "question": "What is associated with Adenocarcinoma of the colon?", "seeds": [ "Adenocarcinoma of the colon" ], "gold_answer": "Neoplasm of the colon", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03117", "question": "What is associated with Irregular epiphysis of the distal phalanx of the 4th finger?", "seeds": [ "Irregular epiphysis of the distal phalanx of the 4th finger" ], "gold_answer": "Abnormality of the epiphysis of the distal phalanx of the 4th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03118", "question": "What is associated with Idiopathic small fibers neuropathy?", "seeds": [ "Idiopathic small fibers neuropathy" ], "gold_answer": "Akathisia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03119", "question": "What is associated with Focal impaired awareness motor seizure with paresis/paralysis?", "seeds": [ "Focal impaired awareness motor seizure with paresis/paralysis" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03120", "question": "What phenotype is associated with Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome?", "seeds": [ "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome" ], "gold_answer": "Hypogonadotropic hypogonadism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03121", "question": "What is associated with Enlarged epiphyses of the 5th toe?", "seeds": [ "Enlarged epiphyses of the 5th toe" ], "gold_answer": "Enlarged epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03122", "question": "What is associated with Elevated circulating Angiotensin-converting enzyme concentration?", "seeds": [ "Elevated circulating Angiotensin-converting enzyme concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03123", "question": "What is associated with Abnormal third cranial nerve morphology?", "seeds": [ "Abnormal third cranial nerve morphology" ], "gold_answer": "Abnormal cranial nerve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03124", "question": "What is associated with Triangular shaped middle phalanges of the hand?", "seeds": [ "Triangular shaped middle phalanges of the hand" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03125", "question": "What phenotype is associated with SERKAL syndrome?", "seeds": [ "SERKAL syndrome" ], "gold_answer": "Abnormality of the penis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03126", "question": "What is associated with Intestinal lymphangiectasia?", "seeds": [ "Intestinal lymphangiectasia" ], "gold_answer": "Lymphangiectasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03127", "question": "What is associated with Duplication of phalanx of hallux?", "seeds": [ "Duplication of phalanx of hallux" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03128", "question": "What phenotype is associated with Hereditary pheochromocytoma-paraganglioma?", "seeds": [ "Hereditary pheochromocytoma-paraganglioma" ], "gold_answer": "Weight loss", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03129", "question": "What is associated with Epileptic encephalopathy, early infantile, 80?", "seeds": [ "Epileptic encephalopathy, early infantile, 80" ], "gold_answer": "Abnormal urine alpha-ketoglutarate concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03130", "question": "What is associated with Central hypoventilation syndrome, congenital, 3?", "seeds": [ "Central hypoventilation syndrome, congenital, 3" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03131", "question": "What is associated with Cortical radial artery hypercellularity?", "seeds": [ "Cortical radial artery hypercellularity" ], "gold_answer": "Abnormal cortical radial artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03132", "question": "What is associated with Patchy sclerosis of the 1st metatarsal?", "seeds": [ "Patchy sclerosis of the 1st metatarsal" ], "gold_answer": "Patchy sclerosis of hallux phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03133", "question": "What is associated with Positive bloodstream Cysticercosis antigen test?", "seeds": [ "Positive bloodstream Cysticercosis antigen test" ], "gold_answer": "Positive bloodstream infectious agent antigen test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03134", "question": "What is associated with Autoimmune lymphoproliferative syndrome?", "seeds": [ "Autoimmune lymphoproliferative syndrome" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03135", "question": "What is associated with Atrophy/Degeneration involving the caudate nucleus?", "seeds": [ "Atrophy/Degeneration involving the caudate nucleus" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03136", "question": "What is associated with Vertical supranuclear gaze palsy?", "seeds": [ "Vertical supranuclear gaze palsy" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03137", "question": "What is associated with Radial head fracture?", "seeds": [ "Radial head fracture" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03138", "question": "What is associated with Abnormal number of hair whorls?", "seeds": [ "Abnormal number of hair whorls" ], "gold_answer": "Abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03139", "question": "What phenotype is associated with Agammaglobulinemia, X-linked?", "seeds": [ "Agammaglobulinemia, X-linked" ], "gold_answer": "Pyoderma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03140", "question": "What is associated with Venular insufficiency, systemic?", "seeds": [ "Venular insufficiency, systemic" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03141", "question": "What phenotype is associated with Ascites, chylous?", "seeds": [ "Ascites, chylous" ], "gold_answer": "Chylous ascites", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03142", "question": "What is associated with Pancreatitis, hereditary?", "seeds": [ "Pancreatitis, hereditary" ], "gold_answer": "Abnormality of temperature regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03143", "question": "What is associated with Mesangial microfibril deposition?", "seeds": [ "Mesangial microfibril deposition" ], "gold_answer": "Mesangial fibril deposition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03144", "question": "What phenotype is associated with Palmoplantar keratoderma, epidermolytic, 2?", "seeds": [ "Palmoplantar keratoderma, epidermolytic, 2" ], "gold_answer": "Curly hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03145", "question": "What is associated with Increased sputum production?", "seeds": [ "Increased sputum production" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03146", "question": "What is associated with Hereditary continuous muscle fiber activity?", "seeds": [ "Hereditary continuous muscle fiber activity" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03147", "question": "What is associated with Abnormal eyelash morphology?", "seeds": [ "Abnormal eyelash morphology" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03148", "question": "What is associated with Generalized ichthyosis?", "seeds": [ "Generalized ichthyosis" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03149", "question": "What is associated with Anti-human immunodeficiency virus antibody positivity?", "seeds": [ "Anti-human immunodeficiency virus antibody positivity" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03150", "question": "What phenotype is associated with Mitochondrial complex IV deficiency, nuclear type 15?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 15" ], "gold_answer": "Myoclonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03151", "question": "What is associated with Carpal synostosis?", "seeds": [ "Carpal synostosis" ], "gold_answer": "Synostosis involving bones of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03152", "question": "What is associated with Increased anti-bacteria IgE antibody level?", "seeds": [ "Increased anti-bacteria IgE antibody level" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03153", "question": "What is associated with Oculodentodigital dysplasia, autosomal recessive?", "seeds": [ "Oculodentodigital dysplasia, autosomal recessive" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03154", "question": "What is associated with Titubation?", "seeds": [ "Titubation" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03155", "question": "What is associated with Patellar dislocation?", "seeds": [ "Patellar dislocation" ], "gold_answer": "Lower extremity joint dislocation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03156", "question": "What is associated with Arteriovenous crossing sign?", "seeds": [ "Arteriovenous crossing sign" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03157", "question": "What is associated with Finger swelling?", "seeds": [ "Finger swelling" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03158", "question": "What is associated with Abnormal facial skeleton morphology?", "seeds": [ "Abnormal facial skeleton morphology" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03159", "question": "What is associated with Prolonged N2 sleep?", "seeds": [ "Prolonged N2 sleep" ], "gold_answer": "Prolonged NREM sleep", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03160", "question": "What is associated with Diminishment of relationship seeking?", "seeds": [ "Diminishment of relationship seeking" ], "gold_answer": "Diminishment of social interactions", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03161", "question": "What is associated with Increased central memory CD8+ T cell proportion?", "seeds": [ "Increased central memory CD8+ T cell proportion" ], "gold_answer": "Abnormal CD8+ T cell subset proportion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03162", "question": "What is associated with Hypoinsulinemic hypoglycemia and body hemihypertrophy?", "seeds": [ "Hypoinsulinemic hypoglycemia and body hemihypertrophy" ], "gold_answer": "Abnormality of the tonsils", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03163", "question": "What phenotype is associated with Ring chromosome 19 syndrome?", "seeds": [ "Ring chromosome 19 syndrome" ], "gold_answer": "Talipes equinovarus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03164", "question": "What is associated with Sacral agenesis with vertebral anomalies?", "seeds": [ "Sacral agenesis with vertebral anomalies" ], "gold_answer": "Cloacal abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03165", "question": "What is associated with Multiple impacted teeth?", "seeds": [ "Multiple impacted teeth" ], "gold_answer": "Eruption failure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03166", "question": "What is associated with Elfin facies?", "seeds": [ "Elfin facies" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03167", "question": "What is associated with Hypercystinemia?", "seeds": [ "Hypercystinemia" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03168", "question": "What is associated with Pulmonary necrosis?", "seeds": [ "Pulmonary necrosis" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03169", "question": "What phenotype is associated with Syndactyly type 5?", "seeds": [ "Syndactyly type 5" ], "gold_answer": "Camptodactyly of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03170", "question": "What phenotype is associated with Bone pain, periodic?", "seeds": [ "Bone pain, periodic" ], "gold_answer": "Bone pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03171", "question": "What is associated with Lipoid congenital adrenal hyperplasia?", "seeds": [ "Lipoid congenital adrenal hyperplasia" ], "gold_answer": "Abnormality of the urethra", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03172", "question": "What is associated with Reduced lymphocyte surface expression of CD43?", "seeds": [ "Reduced lymphocyte surface expression of CD43" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03173", "question": "What phenotype is associated with Symphalangism, c. s. Lewis type?", "seeds": [ "Symphalangism, c. s. Lewis type" ], "gold_answer": "Synostosis involving the 1st metacarpal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03174", "question": "What is associated with Deafness, autosomal dominant 36?", "seeds": [ "Deafness, autosomal dominant 36" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03175", "question": "What is associated with Congenital isolated ACTH deficiency?", "seeds": [ "Congenital isolated ACTH deficiency" ], "gold_answer": "Cholestasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03176", "question": "What phenotype is associated with Coffin-Siris syndrome 2?", "seeds": [ "Coffin-Siris syndrome 2" ], "gold_answer": "Thick vermilion border", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03177", "question": "What is associated with Lytic defects of radial diaphysis?", "seeds": [ "Lytic defects of radial diaphysis" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03178", "question": "What is associated with Distributed along skin tension lines?", "seeds": [ "Distributed along skin tension lines" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03179", "question": "What is associated with Retinal degeneration and epilepsy?", "seeds": [ "Retinal degeneration and epilepsy" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03180", "question": "What phenotype is associated with Atelosteogenesis, type I?", "seeds": [ "Atelosteogenesis, type I" ], "gold_answer": "Disproportionate short-limb short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03181", "question": "What is associated with Abnormal atrioventricular valve morphology?", "seeds": [ "Abnormal atrioventricular valve morphology" ], "gold_answer": "Abnormal heart valve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03182", "question": "What is associated with Joubert syndrome 7?", "seeds": [ "Joubert syndrome 7" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03183", "question": "What phenotype is associated with Dermatitis, atopic?", "seeds": [ "Dermatitis, atopic" ], "gold_answer": "Facial erythema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03184", "question": "What is associated with Increased fecal protoporphyrin concentration?", "seeds": [ "Increased fecal protoporphyrin concentration" ], "gold_answer": "Abnormal stool composition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03185", "question": "What is associated with Elevated circulating methylglutarylcarnitine concentration?", "seeds": [ "Elevated circulating methylglutarylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03186", "question": "What is associated with Arcuate vein medial hypertrophy?", "seeds": [ "Arcuate vein medial hypertrophy" ], "gold_answer": "Abnormal arcuate vein intima/media morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03187", "question": "What is associated with Temple syndrome due to paternal 14q32.2 hypomethylation?", "seeds": [ "Temple syndrome due to paternal 14q32.2 hypomethylation" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03188", "question": "What is associated with Early onset absence seizures?", "seeds": [ "Early onset absence seizures" ], "gold_answer": "Generalized-onset seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03189", "question": "What is associated with Pulmonary air embolism?", "seeds": [ "Pulmonary air embolism" ], "gold_answer": "Pulmonary embolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03190", "question": "What phenotype is associated with Thrombophilia due to thrombomodulin defect?", "seeds": [ "Thrombophilia due to thrombomodulin defect" ], "gold_answer": "Hypercoagulability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03191", "question": "What is associated with Increased level of galactitol in urine?", "seeds": [ "Increased level of galactitol in urine" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03192", "question": "What is associated with Optic nerve hypoplasia?", "seeds": [ "Optic nerve hypoplasia" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03193", "question": "What phenotype is associated with Sorbitol dehydrogenase deficiency with peripheral neuropathy?", "seeds": [ "Sorbitol dehydrogenase deficiency with peripheral neuropathy" ], "gold_answer": "Increased serum sorbitol concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03194", "question": "What is associated with Cutaneous collagenous vasculopathy?", "seeds": [ "Cutaneous collagenous vasculopathy" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03195", "question": "What is associated with Tibialis muscle weakness?", "seeds": [ "Tibialis muscle weakness" ], "gold_answer": "Distal lower limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03196", "question": "What is associated with Axenfeld-Rieger syndrome, type 1?", "seeds": [ "Axenfeld-Rieger syndrome, type 1" ], "gold_answer": "Aplasia/Hypoplasia of the fovea", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03197", "question": "What is associated with Lacrimal duct aplasia?", "seeds": [ "Lacrimal duct aplasia" ], "gold_answer": "Abnormal nasolacrimal system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03198", "question": "What is associated with Lymphoblastic leukemia, acute, with lymphomatous features?", "seeds": [ "Lymphoblastic leukemia, acute, with lymphomatous features" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03199", "question": "What is associated with Elevated tissue non-specific alkaline phosphatase?", "seeds": [ "Elevated tissue non-specific alkaline phosphatase" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03200", "question": "What is associated with Enlarged epiphyses of the 4th finger?", "seeds": [ "Enlarged epiphyses of the 4th finger" ], "gold_answer": "Abnormality of the epiphyses of the 4th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03201", "question": "What is associated with Myopathy, centronuclear, 6, with fiber-type disproportion?", "seeds": [ "Myopathy, centronuclear, 6, with fiber-type disproportion" ], "gold_answer": "Ankle contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03202", "question": "What is associated with Hypoglossia with situs inversus?", "seeds": [ "Hypoglossia with situs inversus" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03203", "question": "What is associated with Decreased circulating antidiuretic hormone concentration?", "seeds": [ "Decreased circulating antidiuretic hormone concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03204", "question": "What is associated with Narcolepsy 1?", "seeds": [ "Narcolepsy 1" ], "gold_answer": "Parasomnia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03205", "question": "What is associated with Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome?", "seeds": [ "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03206", "question": "What is associated with Delayed femoral head ossification?", "seeds": [ "Delayed femoral head ossification" ], "gold_answer": "Abnormal enchondral ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03207", "question": "What is associated with Criss-cross heart?", "seeds": [ "Criss-cross heart" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03208", "question": "What phenotype is associated with Tooth malformation?", "seeds": [ "Tooth malformation" ], "gold_answer": "Tooth malposition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03209", "question": "What is associated with Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive?", "seeds": [ "Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03210", "question": "What is associated with Anterior rounding of vertebral bodies?", "seeds": [ "Anterior rounding of vertebral bodies" ], "gold_answer": "Ovoid vertebral bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03211", "question": "What is associated with Muscle hyperirritability?", "seeds": [ "Muscle hyperirritability" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03212", "question": "What is associated with Hypoplastic anemia?", "seeds": [ "Hypoplastic anemia" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03213", "question": "What phenotype is associated with Peroxisomal acyl-CoA oxidase deficiency?", "seeds": [ "Peroxisomal acyl-CoA oxidase deficiency" ], "gold_answer": "Babinski sign", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03214", "question": "What is associated with Anoperineal fistula?", "seeds": [ "Anoperineal fistula" ], "gold_answer": "Anal fistula", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03215", "question": "What is associated with Increased unswitched memory B cell proportion?", "seeds": [ "Increased unswitched memory B cell proportion" ], "gold_answer": "Abnormal memory B cell proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03216", "question": "What is associated with Irregular chondrocostal junctions?", "seeds": [ "Irregular chondrocostal junctions" ], "gold_answer": "Abnormality of the costochondral junction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03217", "question": "What is associated with Sandestig-Stefanova syndrome?", "seeds": [ "Sandestig-Stefanova syndrome" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03218", "question": "What is associated with Hemihypertrophy?", "seeds": [ "Hemihypertrophy" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03219", "question": "What is associated with Moderate myopia?", "seeds": [ "Moderate myopia" ], "gold_answer": "Myopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03220", "question": "What is associated with Abnormal nasolacrimal system morphology?", "seeds": [ "Abnormal nasolacrimal system morphology" ], "gold_answer": "Abnormality of the orbital region", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03221", "question": "What is associated with Severe combined immunodeficiency due to DCLRE1C deficiency?", "seeds": [ "Severe combined immunodeficiency due to DCLRE1C deficiency" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03222", "question": "What is associated with Macrocytic dyserythropoietic anemia?", "seeds": [ "Macrocytic dyserythropoietic anemia" ], "gold_answer": "Macrocytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03223", "question": "What phenotype is associated with Chilblain lupus?", "seeds": [ "Chilblain lupus" ], "gold_answer": "Rheumatoid factor positive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03224", "question": "What is associated with Abnormal circulating interleukin 6 concentration?", "seeds": [ "Abnormal circulating interleukin 6 concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03225", "question": "What is associated with Glomerular hyaline subepithelial deposits?", "seeds": [ "Glomerular hyaline subepithelial deposits" ], "gold_answer": "Glomerular deposits", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03226", "question": "What is associated with Exposure to repetitive hand impact?", "seeds": [ "Exposure to repetitive hand impact" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03227", "question": "What is associated with Aortic smooth muscle cell nuclei loss?", "seeds": [ "Aortic smooth muscle cell nuclei loss" ], "gold_answer": "Medial degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03228", "question": "What is associated with Fractured middle phalanx of finger?", "seeds": [ "Fractured middle phalanx of finger" ], "gold_answer": "Abnormal middle phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03229", "question": "What is associated with Absent bronchoalveolar dimeric surfactant-protein B?", "seeds": [ "Absent bronchoalveolar dimeric surfactant-protein B" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03230", "question": "What is associated with Mildly reduced contrast sensitivity?", "seeds": [ "Mildly reduced contrast sensitivity" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03231", "question": "What is associated with Clubbing of fingers?", "seeds": [ "Clubbing of fingers" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03232", "question": "What is associated with Anti-contactin-1 antibody positivity?", "seeds": [ "Anti-contactin-1 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03233", "question": "What is associated with Pyknoachondrogenesis?", "seeds": [ "Pyknoachondrogenesis" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03234", "question": "What is associated with Abnormal Z disk morphology?", "seeds": [ "Abnormal Z disk morphology" ], "gold_answer": "Abnormal sarcomere morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03235", "question": "What is associated with Increased circulating purine concentration?", "seeds": [ "Increased circulating purine concentration" ], "gold_answer": "Abnormal circulating purine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03236", "question": "What is associated with Tangier disease?", "seeds": [ "Tangier disease" ], "gold_answer": "Arteriosclerosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03237", "question": "What phenotype is associated with Parkinson disease 23, autosomal recessive, early onset?", "seeds": [ "Parkinson disease 23, autosomal recessive, early onset" ], "gold_answer": "Neuronal loss in central nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03238", "question": "What is associated with Familial cold urticaria?", "seeds": [ "Familial cold urticaria" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03239", "question": "What is associated with Corneal perforation?", "seeds": [ "Corneal perforation" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03240", "question": "What phenotype is associated with Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome?", "seeds": [ "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome" ], "gold_answer": "Microcornea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03241", "question": "What is associated with Infantile-onset autosomal recessive nonprogressive cerebellar ataxia?", "seeds": [ "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03242", "question": "What phenotype is associated with Spinal muscular atrophy, distal, autosomal recessive, 2?", "seeds": [ "Spinal muscular atrophy, distal, autosomal recessive, 2" ], "gold_answer": "Pes cavus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03243", "question": "What is associated with Microcephaly-cervical spine fusion anomalies syndrome?", "seeds": [ "Microcephaly-cervical spine fusion anomalies syndrome" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03244", "question": "What is associated with Epidermolysis bullosa simplex 2A, generalized severe?", "seeds": [ "Epidermolysis bullosa simplex 2A, generalized severe" ], "gold_answer": "Blistering by anatomical location", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03245", "question": "What is associated with Lack of insight?", "seeds": [ "Lack of insight" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03246", "question": "What is associated with Partial absence of specific antibody response to tetanus vaccine?", "seeds": [ "Partial absence of specific antibody response to tetanus vaccine" ], "gold_answer": "Decreased specific antibody response to protein vaccine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03247", "question": "What is associated with Blepharocheilodontic syndrome 2?", "seeds": [ "Blepharocheilodontic syndrome 2" ], "gold_answer": "Ectropion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03248", "question": "What is associated with Pulmonary tuberculosis?", "seeds": [ "Pulmonary tuberculosis" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03249", "question": "What is associated with Mitochondrial complex IV deficiency, nuclear type 11?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 11" ], "gold_answer": "Chorea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03250", "question": "What is associated with Premature aging syndrome, Penttinen type?", "seeds": [ "Premature aging syndrome, Penttinen type" ], "gold_answer": "Macular dots", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03251", "question": "What is associated with Abnormal fetal morphology?", "seeds": [ "Abnormal fetal morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03252", "question": "What is associated with Decreased circulating fetuin A concentration?", "seeds": [ "Decreased circulating fetuin A concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03253", "question": "What is associated with Tapered distal phalanges of finger?", "seeds": [ "Tapered distal phalanges of finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03254", "question": "What is associated with Superior rectus muscle restriction?", "seeds": [ "Superior rectus muscle restriction" ], "gold_answer": "Abnormal superior rectus muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03255", "question": "What is associated with Increased male libido?", "seeds": [ "Increased male libido" ], "gold_answer": "Increased libido", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03256", "question": "What is associated with Epilepsy, familial temporal lobe, 5?", "seeds": [ "Epilepsy, familial temporal lobe, 5" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03257", "question": "What is associated with Abnormal lymphocyte proliferation?", "seeds": [ "Abnormal lymphocyte proliferation" ], "gold_answer": "Abnormal cell proliferation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03258", "question": "What is associated with Trichomegaly-retina pigmentary degeneration-dwarfism syndrome?", "seeds": [ "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03259", "question": "What is associated with Sleep apnea?", "seeds": [ "Sleep apnea" ], "gold_answer": "Sleep-related breathing disorders", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03260", "question": "What is associated with Immunodeficiency 44?", "seeds": [ "Immunodeficiency 44" ], "gold_answer": "Decreased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03261", "question": "What is associated with Pulp obliteration?", "seeds": [ "Pulp obliteration" ], "gold_answer": "Abnormal dental pulp morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03262", "question": "What is associated with Sonographic non-visualized fetal bladder?", "seeds": [ "Sonographic non-visualized fetal bladder" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03263", "question": "What is associated with Elevated circulating sCD25 concentration?", "seeds": [ "Elevated circulating sCD25 concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03264", "question": "What is associated with Deafness, autosomal dominant 89?", "seeds": [ "Deafness, autosomal dominant 89" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03265", "question": "What is associated with Fractured proximal phalanx of digit 3?", "seeds": [ "Fractured proximal phalanx of digit 3" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03266", "question": "What is associated with Finger joint contracture?", "seeds": [ "Finger joint contracture" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03267", "question": "What is associated with Congenital erythropoietic porphyria?", "seeds": [ "Congenital erythropoietic porphyria" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03268", "question": "What is associated with Macular dystrophy, vitelliform, 4?", "seeds": [ "Macular dystrophy, vitelliform, 4" ], "gold_answer": "Yellow/white macular lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03269", "question": "What is associated with Derealization?", "seeds": [ "Derealization" ], "gold_answer": "Abnormal perceptual state", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03270", "question": "What is associated with Foot mass?", "seeds": [ "Foot mass" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03271", "question": "What is associated with Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts?", "seeds": [ "Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03272", "question": "What is associated with Felty syndrome?", "seeds": [ "Felty syndrome" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03273", "question": "What is associated with Prognathism, mandibular?", "seeds": [ "Prognathism, mandibular" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03274", "question": "What is associated with Deafness, autosomal recessive 113?", "seeds": [ "Deafness, autosomal recessive 113" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03275", "question": "What is associated with Abnormal tricuspid chordae tendinae morphology?", "seeds": [ "Abnormal tricuspid chordae tendinae morphology" ], "gold_answer": "Abnormal tricuspid valve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03276", "question": "What is associated with Complement factor H deficiency?", "seeds": [ "Complement factor H deficiency" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03277", "question": "What is associated with HANAC syndrome?", "seeds": [ "HANAC syndrome" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03278", "question": "What is associated with Brachioradialis areflexia?", "seeds": [ "Brachioradialis areflexia" ], "gold_answer": "Areflexia of upper limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03279", "question": "What is associated with Neoplasm of the adrenal cortex?", "seeds": [ "Neoplasm of the adrenal cortex" ], "gold_answer": "Neoplasm of the adrenal gland", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03280", "question": "What is associated with Yellow skin plaque?", "seeds": [ "Yellow skin plaque" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03281", "question": "What is associated with Brain dopamine-serotonin vesicular transport disease?", "seeds": [ "Brain dopamine-serotonin vesicular transport disease" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03282", "question": "What phenotype is associated with Radio-Tartaglia syndrome?", "seeds": [ "Radio-Tartaglia syndrome" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03283", "question": "What is associated with Developmental retinal vascular malformation?", "seeds": [ "Developmental retinal vascular malformation" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03284", "question": "What phenotype is associated with Abcd syndrome?", "seeds": [ "Abcd syndrome" ], "gold_answer": "White eyebrow", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03285", "question": "What is associated with 16p13.11 microdeletion syndrome?", "seeds": [ "16p13.11 microdeletion syndrome" ], "gold_answer": "Abnormal lung development", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03286", "question": "What is associated with Pseudoepiphysis of the middle phalanx of the 5th toe?", "seeds": [ "Pseudoepiphysis of the middle phalanx of the 5th toe" ], "gold_answer": "Pseudoepiphyses of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03287", "question": "What is associated with Facioscapulohumeral dystrophy?", "seeds": [ "Facioscapulohumeral dystrophy" ], "gold_answer": "Lagophthalmos", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03288", "question": "What is associated with Burning eye sensation?", "seeds": [ "Burning eye sensation" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03289", "question": "What phenotype is associated with Warsaw breakage syndrome?", "seeds": [ "Warsaw breakage syndrome" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03290", "question": "What phenotype is associated with Reese retinal dysplasia?", "seeds": [ "Reese retinal dysplasia" ], "gold_answer": "Retinal dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03291", "question": "What is associated with Prolinuria?", "seeds": [ "Prolinuria" ], "gold_answer": "Increased proteinogenic amino acid level in urine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03292", "question": "What is associated with Salter V fracture?", "seeds": [ "Salter V fracture" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03293", "question": "What is associated with Blau syndrome?", "seeds": [ "Blau syndrome" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03294", "question": "What is associated with Hydatidiform mole?", "seeds": [ "Hydatidiform mole" ], "gold_answer": "Abnormal platelet count", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03295", "question": "What is associated with Amelo-onycho-hypohidrotic syndrome?", "seeds": [ "Amelo-onycho-hypohidrotic syndrome" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03296", "question": "What is associated with Conjunctival icterus?", "seeds": [ "Conjunctival icterus" ], "gold_answer": "Abnormal conjunctiva morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03297", "question": "What phenotype is associated with Ataxia-hypogonadism-choroidal dystrophy syndrome?", "seeds": [ "Ataxia-hypogonadism-choroidal dystrophy syndrome" ], "gold_answer": "Chorioretinal dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03298", "question": "What is associated with Abnormal shoulder morphology?", "seeds": [ "Abnormal shoulder morphology" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03299", "question": "What is associated with Lung fibroma?", "seeds": [ "Lung fibroma" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03300", "question": "What is associated with Anti-babesia-specific antibody positivity?", "seeds": [ "Anti-babesia-specific antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03301", "question": "What is associated with Multifocal neonatal sequential seizure?", "seeds": [ "Multifocal neonatal sequential seizure" ], "gold_answer": "Neonatal seizure with electrographic correlate", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03302", "question": "What is associated with Anal mucosal leukoplakia?", "seeds": [ "Anal mucosal leukoplakia" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03303", "question": "What is associated with Ivory epiphysis of the proximal phalanx of the 2nd finger?", "seeds": [ "Ivory epiphysis of the proximal phalanx of the 2nd finger" ], "gold_answer": "Abnormality of the epiphyses of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03304", "question": "What is associated with Calcium oxalate nephrolithiasis?", "seeds": [ "Calcium oxalate nephrolithiasis" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03305", "question": "What is associated with Inguinal abscess?", "seeds": [ "Inguinal abscess" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03306", "question": "What is associated with Gallbladder enlargement?", "seeds": [ "Gallbladder enlargement" ], "gold_answer": "Abnormal gallbladder morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03307", "question": "What is associated with Vascular Ehlers-Danlos syndrome?", "seeds": [ "Vascular Ehlers-Danlos syndrome" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03308", "question": "What phenotype is associated with Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome?", "seeds": [ "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome" ], "gold_answer": "Barrett esophagus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03309", "question": "What is associated with Limb duplication?", "seeds": [ "Limb duplication" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03310", "question": "What phenotype is associated with Brachycephaly, trichomegaly, and developmental delay?", "seeds": [ "Brachycephaly, trichomegaly, and developmental delay" ], "gold_answer": "Thin vermilion border", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03311", "question": "What is associated with Retinal calcification?", "seeds": [ "Retinal calcification" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03312", "question": "What phenotype is associated with Atypical neurofibromatosis?", "seeds": [ "Atypical neurofibromatosis" ], "gold_answer": "Spinal canal stenosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03313", "question": "What is associated with Nevus comedonicus?", "seeds": [ "Nevus comedonicus" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03314", "question": "What is associated with Cerebrooculofacioskeletal syndrome 1?", "seeds": [ "Cerebrooculofacioskeletal syndrome 1" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03315", "question": "What phenotype is associated with Short-Rib thoracic dysplasia 7 with or without polydactyly?", "seeds": [ "Short-Rib thoracic dysplasia 7 with or without polydactyly" ], "gold_answer": "Flat acetabular roof", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03316", "question": "What is associated with Cervical agenesis?", "seeds": [ "Cervical agenesis" ], "gold_answer": "Abnormality of the uterus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03317", "question": "What is associated with Angiokeratoma circumscriptum naeviforme?", "seeds": [ "Angiokeratoma circumscriptum naeviforme" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03318", "question": "What is associated with Retrocorneal membrane?", "seeds": [ "Retrocorneal membrane" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03319", "question": "What phenotype is associated with Corneal dystrophy-perceptive deafness syndrome?", "seeds": [ "Corneal dystrophy-perceptive deafness syndrome" ], "gold_answer": "Corneal opacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03320", "question": "What is associated with Spina bifida occulta at L5?", "seeds": [ "Spina bifida occulta at L5" ], "gold_answer": "Spina bifida", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03321", "question": "What is associated with Curved distal phalanx of the 5th toe?", "seeds": [ "Curved distal phalanx of the 5th toe" ], "gold_answer": "Curved toe phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03322", "question": "What is associated with Adverse drug response?", "seeds": [ "Adverse drug response" ], "gold_answer": "Abnormal drug response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03323", "question": "What is associated with Spastic paraplegia 44, autosomal recessive?", "seeds": [ "Spastic paraplegia 44, autosomal recessive" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03324", "question": "What is associated with Renal interstitial necrotizing granulomas?", "seeds": [ "Renal interstitial necrotizing granulomas" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03325", "question": "What is associated with Delayed puberty?", "seeds": [ "Delayed puberty" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03326", "question": "What is associated with Neoplasm of the rectum?", "seeds": [ "Neoplasm of the rectum" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03327", "question": "What is associated with Penile corporal blood gas ischemia?", "seeds": [ "Penile corporal blood gas ischemia" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03328", "question": "What is associated with Osteolysis involving tarsal bones?", "seeds": [ "Osteolysis involving tarsal bones" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03329", "question": "What is associated with Intellectual developmental disorder, X-linked 50?", "seeds": [ "Intellectual developmental disorder, X-linked 50" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03330", "question": "What is associated with Impaired visually enhanced vestibulo-ocular reflex?", "seeds": [ "Impaired visually enhanced vestibulo-ocular reflex" ], "gold_answer": "Abnormal vestibulo-ocular reflex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03331", "question": "What phenotype is associated with Cataract 7?", "seeds": [ "Cataract 7" ], "gold_answer": "Developmental cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03332", "question": "What phenotype is associated with Mitochondrial DNA depletion syndrome 17?", "seeds": [ "Mitochondrial DNA depletion syndrome 17" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03333", "question": "What is associated with Dysplastic iliac wing?", "seeds": [ "Dysplastic iliac wing" ], "gold_answer": "Abnormal iliac wing morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03334", "question": "What is associated with Reduced tissue alpha-N-acetylgalactosaminidase activity?", "seeds": [ "Reduced tissue alpha-N-acetylgalactosaminidase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03335", "question": "What is associated with Lowe-Kohn-Cohen syndrome?", "seeds": [ "Lowe-Kohn-Cohen syndrome" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03336", "question": "What is associated with Tarsal-carpal coalition syndrome?", "seeds": [ "Tarsal-carpal coalition syndrome" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03337", "question": "What phenotype is associated with Noonan syndrome 13?", "seeds": [ "Noonan syndrome 13" ], "gold_answer": "Head-banging", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03338", "question": "What is associated with Elevated right atrial pressure?", "seeds": [ "Elevated right atrial pressure" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03339", "question": "What is associated with Autosomal dominant hyperinsulinism due to SUR1 deficiency?", "seeds": [ "Autosomal dominant hyperinsulinism due to SUR1 deficiency" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03340", "question": "What phenotype is associated with Lipodystrophy, congenital generalized, type 4?", "seeds": [ "Lipodystrophy, congenital generalized, type 4" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03341", "question": "What phenotype is associated with Ring chromosome 22 syndrome?", "seeds": [ "Ring chromosome 22 syndrome" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03342", "question": "What phenotype is associated with Geleophysic dysplasia 2?", "seeds": [ "Geleophysic dysplasia 2" ], "gold_answer": "Respiratory insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03343", "question": "What phenotype is associated with Proximal second finger symphalangism?", "seeds": [ "Proximal second finger symphalangism" ], "gold_answer": "Metacarpophalangeal synostosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03344", "question": "What phenotype is associated with Short stature and microcephaly with genital anomalies?", "seeds": [ "Short stature and microcephaly with genital anomalies" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03345", "question": "What is associated with Wieacker-Wolff syndrome, female-restricted?", "seeds": [ "Wieacker-Wolff syndrome, female-restricted" ], "gold_answer": "Prenatal movement abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03346", "question": "What phenotype is associated with Camptodactyly syndrome, Guadalajara type 1?", "seeds": [ "Camptodactyly syndrome, Guadalajara type 1" ], "gold_answer": "High palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03347", "question": "What is associated with Fanconi anemia, complementation group T?", "seeds": [ "Fanconi anemia, complementation group T" ], "gold_answer": "Short finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03348", "question": "What is associated with Flared femoral metaphysis?", "seeds": [ "Flared femoral metaphysis" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03349", "question": "What is associated with Hypouricemia?", "seeds": [ "Hypouricemia" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03350", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the 5th toe?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the 5th toe" ], "gold_answer": "Sclerosis of proximal phalanx of toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03351", "question": "What is associated with Beta-thalassemia-X-linked thrombocytopenia syndrome?", "seeds": [ "Beta-thalassemia-X-linked thrombocytopenia syndrome" ], "gold_answer": "Abnormal platelet count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03352", "question": "What is associated with Sneeze?", "seeds": [ "Sneeze" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03353", "question": "What is associated with Wild type ATTR amyloidosis?", "seeds": [ "Wild type ATTR amyloidosis" ], "gold_answer": "Impaired continence", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03354", "question": "What is associated with Elevated circulating S-sulfocysteine concentration?", "seeds": [ "Elevated circulating S-sulfocysteine concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03355", "question": "What is associated with Delayed elbow epiphyseal ossification?", "seeds": [ "Delayed elbow epiphyseal ossification" ], "gold_answer": "Abnormal epiphyseal ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03356", "question": "What is associated with Pancreatitis?", "seeds": [ "Pancreatitis" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03357", "question": "What is associated with Bicuspid aortic valve with right-noncoronary cusp fusion?", "seeds": [ "Bicuspid aortic valve with right-noncoronary cusp fusion" ], "gold_answer": "Bicuspid aortic valve", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03358", "question": "What is associated with Myopathy, tubular aggregate, 1?", "seeds": [ "Myopathy, tubular aggregate, 1" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03359", "question": "What is associated with Ectopic lacrimal punctum?", "seeds": [ "Ectopic lacrimal punctum" ], "gold_answer": "Abnormal lacrimal punctum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03360", "question": "What is associated with Acute monoblastic/monocytic leukemia?", "seeds": [ "Acute monoblastic/monocytic leukemia" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03361", "question": "What is associated with Increased urinary renal tubular epithelial cell count?", "seeds": [ "Increased urinary renal tubular epithelial cell count" ], "gold_answer": "Abnormal urine cytology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03362", "question": "What phenotype is associated with Alobar holoprosencephaly?", "seeds": [ "Alobar holoprosencephaly" ], "gold_answer": "Impaired visuospatial constructive cognition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03363", "question": "What is associated with Transient hypogammaglobulinemia of infancy?", "seeds": [ "Transient hypogammaglobulinemia of infancy" ], "gold_answer": "Decreased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03364", "question": "What is associated with Pectus carinatum?", "seeds": [ "Pectus carinatum" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03365", "question": "What is associated with Abnormal protein N-linked glycosylation?", "seeds": [ "Abnormal protein N-linked glycosylation" ], "gold_answer": "Abnormal glycosylation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03366", "question": "What is associated with Bronchial diverticula?", "seeds": [ "Bronchial diverticula" ], "gold_answer": "Abnormal bronchus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03367", "question": "What is associated with Decreased fetal abdominal circumference?", "seeds": [ "Decreased fetal abdominal circumference" ], "gold_answer": "Abnormal fetal abdominal circumference", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03368", "question": "What is associated with Rounded epiphyses?", "seeds": [ "Rounded epiphyses" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03369", "question": "What is associated with Hypolipidemia?", "seeds": [ "Hypolipidemia" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03370", "question": "What is associated with Anti-beta-2-Glycoprotein I IgM antibody positivity?", "seeds": [ "Anti-beta-2-Glycoprotein I IgM antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03371", "question": "What is associated with Abnormal upper limb bone morphology?", "seeds": [ "Abnormal upper limb bone morphology" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03372", "question": "What is associated with Isolated complex I deficiency?", "seeds": [ "Isolated complex I deficiency" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03373", "question": "What phenotype is associated with Hereditary hemorrhagic telangiectasia?", "seeds": [ "Hereditary hemorrhagic telangiectasia" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03374", "question": "What is associated with Widely patent sagittal suture?", "seeds": [ "Widely patent sagittal suture" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03375", "question": "What phenotype is associated with Hereditary breast and/or ovarian cancer syndrome?", "seeds": [ "Hereditary breast and/or ovarian cancer syndrome" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03376", "question": "What is associated with Intellectual disability-short stature-hypertelorism syndrome?", "seeds": [ "Intellectual disability-short stature-hypertelorism syndrome" ], "gold_answer": "Abnormal zygomatic bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03377", "question": "What is associated with Corneal amyloidosis?", "seeds": [ "Corneal amyloidosis" ], "gold_answer": "Amyloid deposition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03378", "question": "What is associated with Abnormal intramembranous ossification?", "seeds": [ "Abnormal intramembranous ossification" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03379", "question": "What is associated with Camptodactyly of 2nd-5th fingers?", "seeds": [ "Camptodactyly of 2nd-5th fingers" ], "gold_answer": "Flexion contracture of digit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03380", "question": "What is associated with Skin dimple over apex of long bone angulation?", "seeds": [ "Skin dimple over apex of long bone angulation" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03381", "question": "What is associated with Intellectual developmental disorder, X-linked 93?", "seeds": [ "Intellectual developmental disorder, X-linked 93" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03382", "question": "What is associated with Choroid plexus cyst?", "seeds": [ "Choroid plexus cyst" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03383", "question": "What is associated with Polyclonal elevation of IgM?", "seeds": [ "Polyclonal elevation of IgM" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03384", "question": "What is associated with Fragile X-associated primary ovarian insufficiency?", "seeds": [ "Fragile X-associated primary ovarian insufficiency" ], "gold_answer": "FMR1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03385", "question": "What is associated with Abnormal glomerular mesangial matrix morphology?", "seeds": [ "Abnormal glomerular mesangial matrix morphology" ], "gold_answer": "Abnormal glomerular mesangium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03386", "question": "What is associated with Broad phalanx?", "seeds": [ "Broad phalanx" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03387", "question": "What is associated with Neurocutaneous melanosis, somatic?", "seeds": [ "Neurocutaneous melanosis, somatic" ], "gold_answer": "Abnormal affect regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03388", "question": "What phenotype is associated with FOXG1 syndrome?", "seeds": [ "FOXG1 syndrome" ], "gold_answer": "Abnormal corpus callosum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03389", "question": "What is associated with Posterior vitreous detachment?", "seeds": [ "Posterior vitreous detachment" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03390", "question": "What phenotype is associated with Gestational choriocarcinoma?", "seeds": [ "Gestational choriocarcinoma" ], "gold_answer": "Spontaneous abortion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03391", "question": "What is associated with Microcornea?", "seeds": [ "Microcornea" ], "gold_answer": "Abnormality of corneal size", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03392", "question": "What is associated with Neonatal electro-clinical seizure with behavior arrest?", "seeds": [ "Neonatal electro-clinical seizure with behavior arrest" ], "gold_answer": "Neonatal seizure with electrographic correlate", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03393", "question": "What is associated with Congenital abnormal hair pattern?", "seeds": [ "Congenital abnormal hair pattern" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03394", "question": "What phenotype is associated with Benign cephalic histiocytosis?", "seeds": [ "Benign cephalic histiocytosis" ], "gold_answer": "Papule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03395", "question": "What is associated with Erythrocyte lactate transporter defect?", "seeds": [ "Erythrocyte lactate transporter defect" ], "gold_answer": "Muscle spasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03396", "question": "What is associated with Self-limited neonatal epilepsy?", "seeds": [ "Self-limited neonatal epilepsy" ], "gold_answer": "Abnormal facial expression", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03397", "question": "What is associated with Protein craving?", "seeds": [ "Protein craving" ], "gold_answer": "Abnormal consumption behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03398", "question": "What is associated with Thiamine-responsive megaloblastic anemia?", "seeds": [ "Thiamine-responsive megaloblastic anemia" ], "gold_answer": "Megaloblastic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03399", "question": "What is associated with X-linked intellectual disability-short stature-overweight syndrome?", "seeds": [ "X-linked intellectual disability-short stature-overweight syndrome" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03400", "question": "What is associated with Acute?", "seeds": [ "Acute" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03401", "question": "What is associated with Abnormality of ocular abduction?", "seeds": [ "Abnormality of ocular abduction" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03402", "question": "What is associated with ACTH-independent macronodular adrenal hyperplasia 2?", "seeds": [ "ACTH-independent macronodular adrenal hyperplasia 2" ], "gold_answer": "Abnormal circulating adrenocorticotropin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03403", "question": "What is associated with Severe combined immunodeficiency due to FOXN1 deficiency?", "seeds": [ "Severe combined immunodeficiency due to FOXN1 deficiency" ], "gold_answer": "FOXN1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03404", "question": "What is associated with SPONDYLOLISTHESIS?", "seeds": [ "SPONDYLOLISTHESIS" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03405", "question": "What is associated with Polycystic kidney disease 2?", "seeds": [ "Polycystic kidney disease 2" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03406", "question": "What is associated with Deafness, mid-tone neural?", "seeds": [ "Deafness, mid-tone neural" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03407", "question": "What is associated with Coenzyme Q10 deficiency, primary, 8?", "seeds": [ "Coenzyme Q10 deficiency, primary, 8" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03408", "question": "What is associated with Increased mean corpuscular hemoglobin concentration?", "seeds": [ "Increased mean corpuscular hemoglobin concentration" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03409", "question": "What is associated with Myeloschisis?", "seeds": [ "Myeloschisis" ], "gold_answer": "Abnormal neural tube morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03410", "question": "What phenotype is associated with Macrocephaly-intellectual disability-left ventricular non compaction syndrome?", "seeds": [ "Macrocephaly-intellectual disability-left ventricular non compaction syndrome" ], "gold_answer": "Poor head control", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03411", "question": "What phenotype is associated with Craniorachischisis?", "seeds": [ "Craniorachischisis" ], "gold_answer": "Cervical spina bifida", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03412", "question": "What is associated with Deafness, autosomal recessive 77?", "seeds": [ "Deafness, autosomal recessive 77" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03413", "question": "What is associated with Scalp edema?", "seeds": [ "Scalp edema" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03414", "question": "What phenotype is associated with Neuropathy, hereditary motor, with myopathic features?", "seeds": [ "Neuropathy, hereditary motor, with myopathic features" ], "gold_answer": "Motor axonal neuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03415", "question": "What phenotype is associated with Cystic hamartoma of lung and kidney?", "seeds": [ "Cystic hamartoma of lung and kidney" ], "gold_answer": "Multicystic kidney dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03416", "question": "What is associated with Respiratory failure requiring assisted ventilation?", "seeds": [ "Respiratory failure requiring assisted ventilation" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03417", "question": "What is associated with Prominent interdigital folds?", "seeds": [ "Prominent interdigital folds" ], "gold_answer": "Abnormal dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03418", "question": "What is associated with Chylous ascites?", "seeds": [ "Chylous ascites" ], "gold_answer": "Abnormality of pancreas physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03419", "question": "What is associated with Anti-GABA(B)R antibody?", "seeds": [ "Anti-GABA(B)R antibody" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03420", "question": "What is associated with Crossed polysyndactyly?", "seeds": [ "Crossed polysyndactyly" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03421", "question": "What is associated with Alcohol sensitivity, acute?", "seeds": [ "Alcohol sensitivity, acute" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03422", "question": "What is associated with Megaloblastic bone marrow?", "seeds": [ "Megaloblastic bone marrow" ], "gold_answer": "Abnormal bone marrow cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03423", "question": "What phenotype is associated with Cryptotia, familial?", "seeds": [ "Cryptotia, familial" ], "gold_answer": "Cryptotia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03424", "question": "What is associated with Complete diaphragmatic absence of pericardium?", "seeds": [ "Complete diaphragmatic absence of pericardium" ], "gold_answer": "Congenital defect of the pericardium", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03425", "question": "What is associated with Neutrophilic urticarial dermatosis?", "seeds": [ "Neutrophilic urticarial dermatosis" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03426", "question": "What is associated with Abnormal lacrimal gland morphology?", "seeds": [ "Abnormal lacrimal gland morphology" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03427", "question": "What is associated with Complete duplication of the middle phalanx of the 2nd finger?", "seeds": [ "Complete duplication of the middle phalanx of the 2nd finger" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03428", "question": "What is associated with Quotidian fever?", "seeds": [ "Quotidian fever" ], "gold_answer": "Recurrent fever", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03429", "question": "What is associated with Elevated vascular endothelial growth factor level?", "seeds": [ "Elevated vascular endothelial growth factor level" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03430", "question": "What is associated with Allantoic cyst?", "seeds": [ "Allantoic cyst" ], "gold_answer": "Abnormality of the urachus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03431", "question": "What is associated with Cutis laxa, autosomal dominant 2?", "seeds": [ "Cutis laxa, autosomal dominant 2" ], "gold_answer": "Abnormal mitral valve physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03432", "question": "What is associated with Complete duplication of the distal phalanx of the 5th toe?", "seeds": [ "Complete duplication of the distal phalanx of the 5th toe" ], "gold_answer": "Duplication of the phalanges of the 5th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03433", "question": "What is associated with Imagawa-Matsumoto syndrome?", "seeds": [ "Imagawa-Matsumoto syndrome" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03434", "question": "What is associated with Alzheimer disease 3?", "seeds": [ "Alzheimer disease 3" ], "gold_answer": "Abnormal spinal cord physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03435", "question": "What is associated with Cardiomyocyte hypertrophy?", "seeds": [ "Cardiomyocyte hypertrophy" ], "gold_answer": "Abnormal cardiomyocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03436", "question": "What is associated with Curly eyelashes?", "seeds": [ "Curly eyelashes" ], "gold_answer": "Abnormal eyelash morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03437", "question": "What phenotype is associated with Peters plus syndrome?", "seeds": [ "Peters plus syndrome" ], "gold_answer": "Peters anomaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03438", "question": "What is associated with Prominent veins on trunk?", "seeds": [ "Prominent veins on trunk" ], "gold_answer": "Prominent superficial blood vessels", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03439", "question": "What is associated with SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2?", "seeds": [ "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03440", "question": "What is associated with Recurrent long bone fractures?", "seeds": [ "Recurrent long bone fractures" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03441", "question": "What is associated with Cardiac rhabdomyoma?", "seeds": [ "Cardiac rhabdomyoma" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03442", "question": "What is associated with Periapical bone loss?", "seeds": [ "Periapical bone loss" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03443", "question": "What is associated with Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome?", "seeds": [ "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03444", "question": "What is associated with Periodic limb movements of sleep?", "seeds": [ "Periodic limb movements of sleep" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03445", "question": "What is associated with Bilateral triphalangeal thumbs?", "seeds": [ "Bilateral triphalangeal thumbs" ], "gold_answer": "Triphalangeal thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03446", "question": "What is associated with HbC hemoglobin?", "seeds": [ "HbC hemoglobin" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03447", "question": "What is associated with Respiratory insufficiency?", "seeds": [ "Respiratory insufficiency" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03448", "question": "What phenotype is associated with Hereditary pheochromocytoma-paraganglioma?", "seeds": [ "Hereditary pheochromocytoma-paraganglioma" ], "gold_answer": "Adrenal pheochromocytoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03449", "question": "What is associated with Atrophic pituitary gland?", "seeds": [ "Atrophic pituitary gland" ], "gold_answer": "Abnormal size of pituitary gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03450", "question": "What is associated with Amyotrophy involving the shoulder musculature?", "seeds": [ "Amyotrophy involving the shoulder musculature" ], "gold_answer": "Abnormality of the musculature of the upper limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03451", "question": "What is associated with Delay in the acquisition of cooperative play skills?", "seeds": [ "Delay in the acquisition of cooperative play skills" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03452", "question": "What is associated with Cogan syndrome?", "seeds": [ "Cogan syndrome" ], "gold_answer": "Vasculitis by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03453", "question": "What is associated with Granulomatosis?", "seeds": [ "Granulomatosis" ], "gold_answer": "Abnormal macrophage morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03454", "question": "What phenotype is associated with Faciomandibular myoclonus, nocturnal?", "seeds": [ "Faciomandibular myoclonus, nocturnal" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03455", "question": "What is associated with Anti-pituitary antibody positivity?", "seeds": [ "Anti-pituitary antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03456", "question": "What is associated with Preaxial foot polydactyly?", "seeds": [ "Preaxial foot polydactyly" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03457", "question": "What is associated with Hypocalcification of dental enamel?", "seeds": [ "Hypocalcification of dental enamel" ], "gold_answer": "Enamel hypomineralization", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03458", "question": "What is associated with Stippled calcification in carpal bones?", "seeds": [ "Stippled calcification in carpal bones" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03459", "question": "What is associated with Premature graying of body hair?", "seeds": [ "Premature graying of body hair" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03460", "question": "What is associated with Megaloblastic erythroid hyperplasia?", "seeds": [ "Megaloblastic erythroid hyperplasia" ], "gold_answer": "Erythroid hyperplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03461", "question": "What is associated with Ceroid lipofuscinosis, neuronal, 2?", "seeds": [ "Ceroid lipofuscinosis, neuronal, 2" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03462", "question": "What is associated with Absent stapes?", "seeds": [ "Absent stapes" ], "gold_answer": "Abnormality of the middle ear ossicles", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03463", "question": "What is associated with Palmoplantar keratoderma, nonepidermolytic, focal 1?", "seeds": [ "Palmoplantar keratoderma, nonepidermolytic, focal 1" ], "gold_answer": "Hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03464", "question": "What is associated with Decreased circulating vitamin E concentration?", "seeds": [ "Decreased circulating vitamin E concentration" ], "gold_answer": "Abnormal metabolism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03465", "question": "What phenotype is associated with Factor X deficiency?", "seeds": [ "Factor X deficiency" ], "gold_answer": "Epistaxis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03466", "question": "What is associated with Elevated CSF 4-hydroxybutyric acid concentration?", "seeds": [ "Elevated CSF 4-hydroxybutyric acid concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03467", "question": "What is associated with Hemoglobin E disease?", "seeds": [ "Hemoglobin E disease" ], "gold_answer": "Abnormal abdomen morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03468", "question": "What is associated with Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease?", "seeds": [ "Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03469", "question": "What is associated with Rectal abscess?", "seeds": [ "Rectal abscess" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03470", "question": "What is associated with Anti-varicella-zoster antibody positivity?", "seeds": [ "Anti-varicella-zoster antibody positivity" ], "gold_answer": "Bloodstream virus-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03471", "question": "What is associated with Toe syndactyly?", "seeds": [ "Toe syndactyly" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03472", "question": "What is associated with Rhabdoid tumor of the kidney?", "seeds": [ "Rhabdoid tumor of the kidney" ], "gold_answer": "Renal neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03473", "question": "What is associated with Flexion contracture of the 2nd finger?", "seeds": [ "Flexion contracture of the 2nd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03474", "question": "What is associated with Abnormal skin adnexa morphology?", "seeds": [ "Abnormal skin adnexa morphology" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03475", "question": "What is associated with Vulto-van Silfout-de Vries syndrome?", "seeds": [ "Vulto-van Silfout-de Vries syndrome" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03476", "question": "What is associated with Abnormal CSF protein concentration?", "seeds": [ "Abnormal CSF protein concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03477", "question": "What is associated with Basal ganglia calcification, idiopathic, 4?", "seeds": [ "Basal ganglia calcification, idiopathic, 4" ], "gold_answer": "Disinhibition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03478", "question": "What phenotype is associated with X-linked intellectual disability-psychosis-macroorchidism syndrome?", "seeds": [ "X-linked intellectual disability-psychosis-macroorchidism syndrome" ], "gold_answer": "Aggressive behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03479", "question": "What is associated with Oval pupil?", "seeds": [ "Oval pupil" ], "gold_answer": "Abnormal pupil morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03480", "question": "What is associated with Arcuate vein medial hypertrophy?", "seeds": [ "Arcuate vein medial hypertrophy" ], "gold_answer": "Abnormal intrarenal vein morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03481", "question": "What is associated with STT3A-CDG?", "seeds": [ "STT3A-CDG" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03482", "question": "What phenotype is associated with Basilar impression, primary?", "seeds": [ "Basilar impression, primary" ], "gold_answer": "Cervical myelopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03483", "question": "What is associated with Short stature, idiopathic familial?", "seeds": [ "Short stature, idiopathic familial" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03484", "question": "What is associated with P mitrale?", "seeds": [ "P mitrale" ], "gold_answer": "Abnormal P wave", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03485", "question": "What is associated with Ocular pruritus?", "seeds": [ "Ocular pruritus" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03486", "question": "What phenotype is associated with Epidermolytic hyperkeratosis 2?", "seeds": [ "Epidermolytic hyperkeratosis 2" ], "gold_answer": "Palmoplantar keratoderma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03487", "question": "What phenotype is associated with Combined oxidative phosphorylation deficiency 56?", "seeds": [ "Combined oxidative phosphorylation deficiency 56" ], "gold_answer": "Failure to thrive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03488", "question": "What is associated with Aplasia/Hypoplasia of the ovary?", "seeds": [ "Aplasia/Hypoplasia of the ovary" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03489", "question": "What is associated with Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia?", "seeds": [ "Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03490", "question": "What is associated with Small distal femoral epiphysis?", "seeds": [ "Small distal femoral epiphysis" ], "gold_answer": "Abnormality of the distal femoral epiphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03491", "question": "What is associated with Elevated urine hyaluronic acid level?", "seeds": [ "Elevated urine hyaluronic acid level" ], "gold_answer": "Urinary glycosaminoglycan excretion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03492", "question": "What is associated with Multiple biliary hamartomas?", "seeds": [ "Multiple biliary hamartomas" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03493", "question": "What is associated with Elevated circulating acetylcarnitine concentration?", "seeds": [ "Elevated circulating acetylcarnitine concentration" ], "gold_answer": "Elevated circulating short-chain acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03494", "question": "What is associated with Decreased male libido?", "seeds": [ "Decreased male libido" ], "gold_answer": "Decreased libido", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03495", "question": "What is associated with Periosteal new bone of humerus?", "seeds": [ "Periosteal new bone of humerus" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03496", "question": "What is associated with Spleen hamartoma?", "seeds": [ "Spleen hamartoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03497", "question": "What is associated with Abnormal earlobe morphology?", "seeds": [ "Abnormal earlobe morphology" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03498", "question": "What is associated with Focal impaired awareness undressing automatism seizure?", "seeds": [ "Focal impaired awareness undressing automatism seizure" ], "gold_answer": "Focal undressing automatism seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03499", "question": "What is associated with PGM3-CDG?", "seeds": [ "PGM3-CDG" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03500", "question": "What is associated with Elevated circulating PINP concentration?", "seeds": [ "Elevated circulating PINP concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03501", "question": "What is associated with Spinocerebellar ataxia type 34?", "seeds": [ "Spinocerebellar ataxia type 34" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03502", "question": "What is associated with Fractured thoracic vertebra?", "seeds": [ "Fractured thoracic vertebra" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03503", "question": "What is associated with Tremor, hereditary essential, 5?", "seeds": [ "Tremor, hereditary essential, 5" ], "gold_answer": "Tremor by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03504", "question": "What phenotype is associated with Hyperlysinemia?", "seeds": [ "Hyperlysinemia" ], "gold_answer": "Hematuria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03505", "question": "What is associated with Elevated circulating succinate?", "seeds": [ "Elevated circulating succinate" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03506", "question": "What is associated with Oculocerebrofacial syndrome, Kaufman type?", "seeds": [ "Oculocerebrofacial syndrome, Kaufman type" ], "gold_answer": "Abnormality of mouth size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03507", "question": "What is associated with Palmoplantar cutis laxa?", "seeds": [ "Palmoplantar cutis laxa" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03508", "question": "What is associated with Agammaglobulinemia 3, autosomal recessive?", "seeds": [ "Agammaglobulinemia 3, autosomal recessive" ], "gold_answer": "Abnormal bronchus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03509", "question": "What is associated with Hyperprolinemia type 1?", "seeds": [ "Hyperprolinemia type 1" ], "gold_answer": "PRODH", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03510", "question": "What is associated with Equinovarus deformity?", "seeds": [ "Equinovarus deformity" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03511", "question": "What is associated with Calcium channel blocker exposure?", "seeds": [ "Calcium channel blocker exposure" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03512", "question": "What is associated with Combined oxidative phosphorylation deficiency 55?", "seeds": [ "Combined oxidative phosphorylation deficiency 55" ], "gold_answer": "Talipes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03513", "question": "What is associated with Renal tubulopathy-encephalopathy-liver failure syndrome?", "seeds": [ "Renal tubulopathy-encephalopathy-liver failure syndrome" ], "gold_answer": "BCS1L", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03514", "question": "What is associated with Anesthesic-triggered malignant hyperthermia?", "seeds": [ "Anesthesic-triggered malignant hyperthermia" ], "gold_answer": "Malignant hyperthermia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03515", "question": "What is associated with Decreased pituitary glycoprotein hormone alpha subunit level?", "seeds": [ "Decreased pituitary glycoprotein hormone alpha subunit level" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03516", "question": "What is associated with Isolated autosomal dominant hypomagnesemia, Glaudemans type?", "seeds": [ "Isolated autosomal dominant hypomagnesemia, Glaudemans type" ], "gold_answer": "KCNA1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03517", "question": "What is associated with Pollakisuria?", "seeds": [ "Pollakisuria" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03518", "question": "What is associated with Parkinson disease 24, autosomal dominant, susceptibility to?", "seeds": [ "Parkinson disease 24, autosomal dominant, susceptibility to" ], "gold_answer": "Abnormal emotional state", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03519", "question": "What is associated with Non-caseating epithelioid cell granulomatosis?", "seeds": [ "Non-caseating epithelioid cell granulomatosis" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03520", "question": "What is associated with Growth without growth hormone?", "seeds": [ "Growth without growth hormone" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03521", "question": "What is associated with Reduced muscle fiber alpha dystroglycan?", "seeds": [ "Reduced muscle fiber alpha dystroglycan" ], "gold_answer": "Abnormal muscle fiber alpha dystroglycan", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03522", "question": "What is associated with Sterile pyuria?", "seeds": [ "Sterile pyuria" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03523", "question": "What is associated with Short third metatarsal?", "seeds": [ "Short third metatarsal" ], "gold_answer": "Abnormal metatarsal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03524", "question": "What is associated with Posterior capsular cataract?", "seeds": [ "Posterior capsular cataract" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03525", "question": "What is associated with Focal segmental glomerulosclerosis 9?", "seeds": [ "Focal segmental glomerulosclerosis 9" ], "gold_answer": "Nephrotic syndrome", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03526", "question": "What is associated with Amelogenesis imperfecta, type IIIB?", "seeds": [ "Amelogenesis imperfecta, type IIIB" ], "gold_answer": "Tooth malposition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03527", "question": "What is associated with Autoinflammatory syndrome, familial, X-linked, Behcet-like 2?", "seeds": [ "Autoinflammatory syndrome, familial, X-linked, Behcet-like 2" ], "gold_answer": "Anal fistula", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03528", "question": "What is associated with FLNC-related handgrip and calf weakness-distal myopathy?", "seeds": [ "FLNC-related handgrip and calf weakness-distal myopathy" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03529", "question": "What phenotype is associated with MOMO syndrome?", "seeds": [ "MOMO syndrome" ], "gold_answer": "Hyperconvex nail", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03530", "question": "What is associated with Air crescent?", "seeds": [ "Air crescent" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03531", "question": "What phenotype is associated with Microcephaly-micromelia syndrome?", "seeds": [ "Microcephaly-micromelia syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03532", "question": "What is associated with Congenital hip dislocation?", "seeds": [ "Congenital hip dislocation" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03533", "question": "What is associated with Calcified placenta?", "seeds": [ "Calcified placenta" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03534", "question": "What is associated with Carcinoid syndrome?", "seeds": [ "Carcinoid syndrome" ], "gold_answer": "Skin plaque", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03535", "question": "What is associated with Bleeding disorder due to P2Y12 defect?", "seeds": [ "Bleeding disorder due to P2Y12 defect" ], "gold_answer": "P2RY12", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03536", "question": "What is associated with Thin skin?", "seeds": [ "Thin skin" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03537", "question": "What is associated with Gastric carcinoid tumor?", "seeds": [ "Gastric carcinoid tumor" ], "gold_answer": "Neuroendocrine neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03538", "question": "What is associated with Vaguely nodular lymph-node architecture?", "seeds": [ "Vaguely nodular lymph-node architecture" ], "gold_answer": "Altered lymph-node tissue architecture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03539", "question": "What phenotype is associated with Albinism-deafness syndrome?", "seeds": [ "Albinism-deafness syndrome" ], "gold_answer": "Aganglionic megacolon", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03540", "question": "What is associated with Acquired aphakia?", "seeds": [ "Acquired aphakia" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03541", "question": "What is associated with Epilepsy, nocturnal frontal lobe, type 1?", "seeds": [ "Epilepsy, nocturnal frontal lobe, type 1" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03542", "question": "What is associated with Optic atrophy from cranial nerve compression?", "seeds": [ "Optic atrophy from cranial nerve compression" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03543", "question": "What is associated with Decreased circulating ADAMTS13 activity?", "seeds": [ "Decreased circulating ADAMTS13 activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03544", "question": "What is associated with Abnormal dental root morphology?", "seeds": [ "Abnormal dental root morphology" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03545", "question": "What is associated with Epidermolysis bullosa simplex 1B, generalized intermediate?", "seeds": [ "Epidermolysis bullosa simplex 1B, generalized intermediate" ], "gold_answer": "Blistering by anatomical location", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03546", "question": "What is associated with Hermansky-Pudlak syndrome 2?", "seeds": [ "Hermansky-Pudlak syndrome 2" ], "gold_answer": "Abnormal upper lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03547", "question": "What is associated with Lingual dystonia?", "seeds": [ "Lingual dystonia" ], "gold_answer": "Craniofacial dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03548", "question": "What is associated with Difficulty recognizing another's emotions?", "seeds": [ "Difficulty recognizing another's emotions" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03549", "question": "What is associated with Pancreatic cancer, susceptibility to, 2?", "seeds": [ "Pancreatic cancer, susceptibility to, 2" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03550", "question": "What is associated with Venous varicosities of celiac and mesenteric vessels?", "seeds": [ "Venous varicosities of celiac and mesenteric vessels" ], "gold_answer": "Venous insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03551", "question": "What is associated with Anti-GlyR antibody?", "seeds": [ "Anti-GlyR antibody" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03552", "question": "What is associated with Vascular malformation of the lip?", "seeds": [ "Vascular malformation of the lip" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03553", "question": "What phenotype is associated with Anaplastic thyroid carcinoma?", "seeds": [ "Anaplastic thyroid carcinoma" ], "gold_answer": "Neoplasm of the skeletal system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03554", "question": "What is associated with Retinal vasculitis?", "seeds": [ "Retinal vasculitis" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03555", "question": "What is associated with Anaplastic large-cell lymphoma?", "seeds": [ "Anaplastic large-cell lymphoma" ], "gold_answer": "Non-Hodgkin lymphoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03556", "question": "What is associated with Abnormal fetal nasal bone visualization?", "seeds": [ "Abnormal fetal nasal bone visualization" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03557", "question": "What is associated with Osteolytic defects of the phalanges of the toes?", "seeds": [ "Osteolytic defects of the phalanges of the toes" ], "gold_answer": "Osteolysis involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03558", "question": "What is associated with Calcification of the small brain vessels?", "seeds": [ "Calcification of the small brain vessels" ], "gold_answer": "Abnormal cerebral artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03559", "question": "What is associated with Cutaneous anergy?", "seeds": [ "Cutaneous anergy" ], "gold_answer": "Abnormal T cell physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03560", "question": "What is associated with Sarcoidosis, susceptibility to, 2?", "seeds": [ "Sarcoidosis, susceptibility to, 2" ], "gold_answer": "Abnormality of facial musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03561", "question": "What is associated with Elevated urine 2-trans,4-cis-decadienoylcarnitine level?", "seeds": [ "Elevated urine 2-trans,4-cis-decadienoylcarnitine level" ], "gold_answer": "Abnormal concentration of acylcarnitine in the urine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03562", "question": "What is associated with Capillary malformation of the lip?", "seeds": [ "Capillary malformation of the lip" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03563", "question": "What is associated with Usher syndrome, type IIA?", "seeds": [ "Usher syndrome, type IIA" ], "gold_answer": "Retinal dystrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03564", "question": "What is associated with Basal ganglia calcification, idiopathic, 11, autosomal recessive?", "seeds": [ "Basal ganglia calcification, idiopathic, 11, autosomal recessive" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03565", "question": "What phenotype is associated with Brachydactyly, type A6?", "seeds": [ "Brachydactyly, type A6" ], "gold_answer": "Type A brachydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03566", "question": "What is associated with Entropion?", "seeds": [ "Entropion" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03567", "question": "What is associated with Muscle weakness?", "seeds": [ "Muscle weakness" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03568", "question": "What is associated with Cortical radial artery intima/media liquefactive necrosis?", "seeds": [ "Cortical radial artery intima/media liquefactive necrosis" ], "gold_answer": "Abnormal cortical radial artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03569", "question": "What is associated with Cystathioninemia?", "seeds": [ "Cystathioninemia" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03570", "question": "What is associated with Immunodeficiency 47?", "seeds": [ "Immunodeficiency 47" ], "gold_answer": "Functional motor deficit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03571", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 37?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 37" ], "gold_answer": "Disinhibition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03572", "question": "What is associated with Limited shoulder external rotation?", "seeds": [ "Limited shoulder external rotation" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03573", "question": "What is associated with Bronchocele?", "seeds": [ "Bronchocele" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03574", "question": "What phenotype is associated with Renal failure, progressive, with hypertension?", "seeds": [ "Renal failure, progressive, with hypertension" ], "gold_answer": "Stage 5 chronic kidney disease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03575", "question": "What is associated with Deafness, autosomal dominant 82?", "seeds": [ "Deafness, autosomal dominant 82" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03576", "question": "What is associated with Lissencephaly type 1 due to doublecortin gene mutation?", "seeds": [ "Lissencephaly type 1 due to doublecortin gene mutation" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03577", "question": "What is associated with No social interaction?", "seeds": [ "No social interaction" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03578", "question": "What is associated with Short 4th toe?", "seeds": [ "Short 4th toe" ], "gold_answer": "Aplasia/Hypoplasia of toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03579", "question": "What is associated with Increased level of 3-hydroxy-3-methylglutaric acid in urine?", "seeds": [ "Increased level of 3-hydroxy-3-methylglutaric acid in urine" ], "gold_answer": "Dicarboxylic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03580", "question": "What phenotype is associated with Corneal dystrophy, Central type?", "seeds": [ "Corneal dystrophy, Central type" ], "gold_answer": "Central corneal dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03581", "question": "What is associated with Ciliary dyskinesia, primary, 46?", "seeds": [ "Ciliary dyskinesia, primary, 46" ], "gold_answer": "Sinusitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03582", "question": "What phenotype is associated with Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis?", "seeds": [ "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" ], "gold_answer": "Inappropriate crying", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03583", "question": "What is associated with Elevated circulating saccharopine concentration?", "seeds": [ "Elevated circulating saccharopine concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03584", "question": "What is associated with Reduced erythrocyte glutathione reductase activity?", "seeds": [ "Reduced erythrocyte glutathione reductase activity" ], "gold_answer": "Abnormal erythrocyte enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03585", "question": "What is associated with Abnormal phagocytosis?", "seeds": [ "Abnormal phagocytosis" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03586", "question": "What is associated with Reduced granulocyte surface marker level?", "seeds": [ "Reduced granulocyte surface marker level" ], "gold_answer": "Reduced cell surface marker level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03587", "question": "What is associated with Abnormal 2nd finger morphology?", "seeds": [ "Abnormal 2nd finger morphology" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03588", "question": "What is associated with Upbeat nystagmus?", "seeds": [ "Upbeat nystagmus" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03589", "question": "What is associated with Bile acid synthesis defect, congenital, 3?", "seeds": [ "Bile acid synthesis defect, congenital, 3" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03590", "question": "What is associated with Abnormality of skeletal muscle fiber size?", "seeds": [ "Abnormality of skeletal muscle fiber size" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03591", "question": "What is associated with Pontocerebellar hypoplasia, type 2F?", "seeds": [ "Pontocerebellar hypoplasia, type 2F" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03592", "question": "What phenotype is associated with Congenital disorder of glycosylation, type Iw?", "seeds": [ "Congenital disorder of glycosylation, type Iw" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03593", "question": "What is associated with Pelvis fracture?", "seeds": [ "Pelvis fracture" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03594", "question": "What phenotype is associated with Spastic paraplegia 42, autosomal dominant?", "seeds": [ "Spastic paraplegia 42, autosomal dominant" ], "gold_answer": "Babinski sign", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03595", "question": "What is associated with Sagliker syndrome?", "seeds": [ "Sagliker syndrome" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03596", "question": "What is associated with Variegate porphyria, childhood-onset?", "seeds": [ "Variegate porphyria, childhood-onset" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03597", "question": "What phenotype is associated with Brugada syndrome 7?", "seeds": [ "Brugada syndrome 7" ], "gold_answer": "Permanent atrial fibrillation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03598", "question": "What is associated with Stippling of the epiphyses of the 2nd finger?", "seeds": [ "Stippling of the epiphyses of the 2nd finger" ], "gold_answer": "Abnormal epiphyseal ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03599", "question": "What is associated with Immunodeficiency 38 with basal ganglia calcification?", "seeds": [ "Immunodeficiency 38 with basal ganglia calcification" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03600", "question": "What is associated with Ichthyosis, spastic quadriplegia, and impaired intellectual development?", "seeds": [ "Ichthyosis, spastic quadriplegia, and impaired intellectual development" ], "gold_answer": "Appendicular spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03601", "question": "What is associated with Febrile seizures, familial, 6?", "seeds": [ "Febrile seizures, familial, 6" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03602", "question": "What is associated with Digital clubbing, isolated congenital?", "seeds": [ "Digital clubbing, isolated congenital" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03603", "question": "What is associated with Developmental and epileptic encephalopathy 119?", "seeds": [ "Developmental and epileptic encephalopathy 119" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03604", "question": "What is associated with IRVAN syndrome?", "seeds": [ "IRVAN syndrome" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03605", "question": "What is associated with Sabinas brittle hair syndrome?", "seeds": [ "Sabinas brittle hair syndrome" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03606", "question": "What is associated with Delayed ossification of the trapezoid bone?", "seeds": [ "Delayed ossification of the trapezoid bone" ], "gold_answer": "Abnormal carpal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03607", "question": "What is associated with Hypercholesterolemia, familial, 2?", "seeds": [ "Hypercholesterolemia, familial, 2" ], "gold_answer": "Nodular changes affecting the eyelids", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03608", "question": "What is associated with Reduced granulocyte CD55 level?", "seeds": [ "Reduced granulocyte CD55 level" ], "gold_answer": "Reduced granulocyte surface marker level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03609", "question": "What phenotype is associated with Spermatogenic failure 50?", "seeds": [ "Spermatogenic failure 50" ], "gold_answer": "Decreased testicular size", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03610", "question": "What phenotype is associated with Chorea, benign hereditary?", "seeds": [ "Chorea, benign hereditary" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03611", "question": "What is associated with Type 1 muscle fiber atrophy?", "seeds": [ "Type 1 muscle fiber atrophy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03612", "question": "What phenotype is associated with Arnold-Chiari malformation type I?", "seeds": [ "Arnold-Chiari malformation type I" ], "gold_answer": "Cranial nerve paralysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03613", "question": "What is associated with Progressive spinal muscular atrophy?", "seeds": [ "Progressive spinal muscular atrophy" ], "gold_answer": "Spinal muscular atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03614", "question": "What is associated with Progressive sensorineural hearing impairment?", "seeds": [ "Progressive sensorineural hearing impairment" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03615", "question": "What is associated with Leukemia, acute myeloid?", "seeds": [ "Leukemia, acute myeloid" ], "gold_answer": "Leukemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03616", "question": "What is associated with EGF-related primary hypomagnesemia with intellectual disability?", "seeds": [ "EGF-related primary hypomagnesemia with intellectual disability" ], "gold_answer": "EGF", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03617", "question": "What is associated with Decreased fecal pH?", "seeds": [ "Decreased fecal pH" ], "gold_answer": "Abnormal stool composition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03618", "question": "What phenotype is associated with Congenital heart defects, multiple types, 8, with or without heterotaxy?", "seeds": [ "Congenital heart defects, multiple types, 8, with or without heterotaxy" ], "gold_answer": "Short nose", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03619", "question": "What is associated with Hip subluxation?", "seeds": [ "Hip subluxation" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03620", "question": "What is associated with Reduced factor XII activity?", "seeds": [ "Reduced factor XII activity" ], "gold_answer": "Abnormality of the intrinsic pathway", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03621", "question": "What is associated with Prominent fingertip pads?", "seeds": [ "Prominent fingertip pads" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03622", "question": "What is associated with Talonavicular coalition?", "seeds": [ "Talonavicular coalition" ], "gold_answer": "Abnormal 5th finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03623", "question": "What phenotype is associated with Madras motor neuron disease?", "seeds": [ "Madras motor neuron disease" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03624", "question": "What is associated with Osteolytic defects of the phalanges of the 3rd toe?", "seeds": [ "Osteolytic defects of the phalanges of the 3rd toe" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03625", "question": "What is associated with Porphyrinuria?", "seeds": [ "Porphyrinuria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03626", "question": "What is associated with Colonic fibrinopurulent exudate?", "seeds": [ "Colonic fibrinopurulent exudate" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03627", "question": "What is associated with Piebald trait?", "seeds": [ "Piebald trait" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03628", "question": "What is associated with Stiff interphalangeal joints?", "seeds": [ "Stiff interphalangeal joints" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03629", "question": "What is associated with Achilles tendon tear?", "seeds": [ "Achilles tendon tear" ], "gold_answer": "Abnormal Achilles tendon morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03630", "question": "What phenotype is associated with Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included?", "seeds": [ "Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included" ], "gold_answer": "Epiphyseal stippling", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03631", "question": "What is associated with Anti-contactin-associated protein 1 antibody positivity?", "seeds": [ "Anti-contactin-associated protein 1 antibody positivity" ], "gold_answer": "Anti-contactin-1 antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03632", "question": "What is associated with Elevated urinary quinolinic acid level?", "seeds": [ "Elevated urinary quinolinic acid level" ], "gold_answer": "Abnormal urinary pyrimidine level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03633", "question": "What is associated with Abnormal tissue alpha-N-acetylglucosaminidase activity?", "seeds": [ "Abnormal tissue alpha-N-acetylglucosaminidase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03634", "question": "What is associated with Glycogen storage disease due to aldolase A deficiency?", "seeds": [ "Glycogen storage disease due to aldolase A deficiency" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03635", "question": "What is associated with Dentin dysplasia, type I, with microdontia and misshapen teeth?", "seeds": [ "Dentin dysplasia, type I, with microdontia and misshapen teeth" ], "gold_answer": "Craniofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03636", "question": "What is associated with Abcd syndrome?", "seeds": [ "Abcd syndrome" ], "gold_answer": "Abnormality of hair pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03637", "question": "What is associated with Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy?", "seeds": [ "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03638", "question": "What is associated with Ravine syndrome?", "seeds": [ "Ravine syndrome" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03639", "question": "What is associated with Charcot-Marie-Tooth disease type 4B3?", "seeds": [ "Charcot-Marie-Tooth disease type 4B3" ], "gold_answer": "SBF1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03640", "question": "What is associated with Decreased circulating ceruloplasmin concentration?", "seeds": [ "Decreased circulating ceruloplasmin concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03641", "question": "What is associated with Posterior polymorphous corneal dystrophy?", "seeds": [ "Posterior polymorphous corneal dystrophy" ], "gold_answer": "Sensory hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03642", "question": "What is associated with Personality disorder?", "seeds": [ "Personality disorder" ], "gold_answer": "Impairment in personality functioning", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03643", "question": "What is associated with Elbow hypertrichosis?", "seeds": [ "Elbow hypertrichosis" ], "gold_answer": "Hypertrichosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03644", "question": "What is associated with Bilateral elbow dislocations?", "seeds": [ "Bilateral elbow dislocations" ], "gold_answer": "Abnormal elbow physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03645", "question": "What is associated with Laryngospasm?", "seeds": [ "Laryngospasm" ], "gold_answer": "Abnormal larynx physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03646", "question": "What is associated with Broad proximal phalanx of the 4th toe?", "seeds": [ "Broad proximal phalanx of the 4th toe" ], "gold_answer": "Abnormal fourth toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03647", "question": "What is associated with Ptosis-vocal cord paralysis syndrome?", "seeds": [ "Ptosis-vocal cord paralysis syndrome" ], "gold_answer": "Proportionate short stature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03648", "question": "What is associated with Congenital malformation of the left heart?", "seeds": [ "Congenital malformation of the left heart" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03649", "question": "What is associated with Short phalanx of the 3rd toe?", "seeds": [ "Short phalanx of the 3rd toe" ], "gold_answer": "Abnormality of the phalanges of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03650", "question": "What is associated with Neonatal hypoglycemia?", "seeds": [ "Neonatal hypoglycemia" ], "gold_answer": "Abnormal blood glucose concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03651", "question": "What is associated with Asymmetric abdominal aortic aneurysm?", "seeds": [ "Asymmetric abdominal aortic aneurysm" ], "gold_answer": "Aortic aneurysm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03652", "question": "What is associated with Pili torti-onychodysplasia syndrome?", "seeds": [ "Pili torti-onychodysplasia syndrome" ], "gold_answer": "Abnormality of hair texture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03653", "question": "What phenotype is associated with Intellectual developmental disorder 61?", "seeds": [ "Intellectual developmental disorder 61" ], "gold_answer": "Attention deficit hyperactivity disorder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03654", "question": "What is associated with Intracranial hemorrhage?", "seeds": [ "Intracranial hemorrhage" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03655", "question": "What is associated with Vacuolar myopathy with sarcoplasmic reticulum protein aggregates?", "seeds": [ "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03656", "question": "What is associated with Pulsatile mass in extremity?", "seeds": [ "Pulsatile mass in extremity" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03657", "question": "What is associated with Citrullinemia type II?", "seeds": [ "Citrullinemia type II" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03658", "question": "What is associated with Anti-annexin A5 antibody positivity?", "seeds": [ "Anti-annexin A5 antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03659", "question": "What is associated with Increased CSF citrulline concentration?", "seeds": [ "Increased CSF citrulline concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03660", "question": "What is associated with Pseudoepiphyses of the 4th finger?", "seeds": [ "Pseudoepiphyses of the 4th finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03661", "question": "What is associated with Spastic paraplegia-severe developmental delay-epilepsy syndrome?", "seeds": [ "Spastic paraplegia-severe developmental delay-epilepsy syndrome" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03662", "question": "What phenotype is associated with Congenital disorder of glycosylation, type Iip?", "seeds": [ "Congenital disorder of glycosylation, type Iip" ], "gold_answer": "Hepatomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03663", "question": "What is associated with Anemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane?", "seeds": [ "Anemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03664", "question": "What is associated with Hallux symphalangism?", "seeds": [ "Hallux symphalangism" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03665", "question": "What is associated with Storage pool platelet disease?", "seeds": [ "Storage pool platelet disease" ], "gold_answer": "Hematological neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03666", "question": "What is associated with Temporomandibular arthritis?", "seeds": [ "Temporomandibular arthritis" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03667", "question": "What is associated with Pityriasis rubra pilaris?", "seeds": [ "Pityriasis rubra pilaris" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03668", "question": "What phenotype is associated with Mitochondrial complex III deficiency, nuclear type 7?", "seeds": [ "Mitochondrial complex III deficiency, nuclear type 7" ], "gold_answer": "Hyperuricosuria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03669", "question": "What is associated with Broad palm?", "seeds": [ "Broad palm" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03670", "question": "What is associated with Schwartz-Jampel syndrome?", "seeds": [ "Schwartz-Jampel syndrome" ], "gold_answer": "Focal dystonia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03671", "question": "What phenotype is associated with Oguchi disease 1?", "seeds": [ "Oguchi disease 1" ], "gold_answer": "Early-onset non-progressive night blindness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03672", "question": "What is associated with Copper deficiency, familial benign?", "seeds": [ "Copper deficiency, familial benign" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03673", "question": "What is associated with Spinal muscular atrophy, type III?", "seeds": [ "Spinal muscular atrophy, type III" ], "gold_answer": "Fasciculations", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03674", "question": "What is associated with Abnormality of the middle phalanx of the 4th finger?", "seeds": [ "Abnormality of the middle phalanx of the 4th finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03675", "question": "What is associated with CHARGE syndrome?", "seeds": [ "CHARGE syndrome" ], "gold_answer": "Aplasia/Hypoplasia of facial bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03676", "question": "What is associated with Cataract 3, multiple types?", "seeds": [ "Cataract 3, multiple types" ], "gold_answer": "GJA8", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_03677", "question": "What phenotype is associated with Focal segmental glomerulosclerosis 9?", "seeds": [ "Focal segmental glomerulosclerosis 9" ], "gold_answer": "Focal segmental glomerulosclerosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03678", "question": "What is associated with Abnormal number of erythroid precursors?", "seeds": [ "Abnormal number of erythroid precursors" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03679", "question": "What phenotype is associated with Pallister-Hall-like syndrome?", "seeds": [ "Pallister-Hall-like syndrome" ], "gold_answer": "Hypothalamic hamartoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03680", "question": "What is associated with Urinary bladder hamartoma?", "seeds": [ "Urinary bladder hamartoma" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03681", "question": "What is associated with Elevated circulating myoglobin concentration?", "seeds": [ "Elevated circulating myoglobin concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03682", "question": "What is associated with Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities?", "seeds": [ "Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities" ], "gold_answer": "Status epilepticus without prominent motor symptoms", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03683", "question": "What is associated with Femoroacetabular impingement?", "seeds": [ "Femoroacetabular impingement" ], "gold_answer": "Abnormal hip bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03684", "question": "What is associated with Split-Hand/foot malformation 1?", "seeds": [ "Split-Hand/foot malformation 1" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03685", "question": "What is associated with Episodic flaccid weakness?", "seeds": [ "Episodic flaccid weakness" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03686", "question": "What is associated with Fetal intra-abdominal umbilical vein varix?", "seeds": [ "Fetal intra-abdominal umbilical vein varix" ], "gold_answer": "Umbilical vein varix", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03687", "question": "What is associated with X-linked complicated spastic paraplegia type 1?", "seeds": [ "X-linked complicated spastic paraplegia type 1" ], "gold_answer": "Paraplegia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03688", "question": "What is associated with Reduction of neutrophil motility?", "seeds": [ "Reduction of neutrophil motility" ], "gold_answer": "Abnormal neutrophil physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03689", "question": "What phenotype is associated with Pyruvate kinase deficiency of red cells?", "seeds": [ "Pyruvate kinase deficiency of red cells" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03690", "question": "What is associated with Dysgammaglobulinemia?", "seeds": [ "Dysgammaglobulinemia" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03691", "question": "What is associated with Paradoxical splitting of the second heart sound?", "seeds": [ "Paradoxical splitting of the second heart sound" ], "gold_answer": "Abnormal second heart sound", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03692", "question": "What is associated with Mild phosphoribosylpyrophosphate synthetase superactivity?", "seeds": [ "Mild phosphoribosylpyrophosphate synthetase superactivity" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03693", "question": "What is associated with Immunodeficiency-Centromeric instability-facial anomalies syndrome 3?", "seeds": [ "Immunodeficiency-Centromeric instability-facial anomalies syndrome 3" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03694", "question": "What is associated with Autoimmune polyendocrinopathy type 2?", "seeds": [ "Autoimmune polyendocrinopathy type 2" ], "gold_answer": "Abnormal thyroid-stimulating hormone level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03695", "question": "What is associated with Enlarged humeral head?", "seeds": [ "Enlarged humeral head" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03696", "question": "What is associated with Short finger?", "seeds": [ "Short finger" ], "gold_answer": "Aplasia/hypoplasia involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03697", "question": "What is associated with Elbow fracture?", "seeds": [ "Elbow fracture" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03698", "question": "What is associated with Elevated mitochondrial citrate synthase activity?", "seeds": [ "Elevated mitochondrial citrate synthase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03699", "question": "What is associated with Two-raphe bicuspid aortic valve?", "seeds": [ "Two-raphe bicuspid aortic valve" ], "gold_answer": "Abnormal aortic valve cusp morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03700", "question": "What is associated with Fetal intraventricular hemorrhage without ventriculomegaly?", "seeds": [ "Fetal intraventricular hemorrhage without ventriculomegaly" ], "gold_answer": "Abnormal fetal central nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03701", "question": "What is associated with Leukoencephalopathy?", "seeds": [ "Leukoencephalopathy" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03702", "question": "What phenotype is associated with Monocyte chemotactic disorder?", "seeds": [ "Monocyte chemotactic disorder" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03703", "question": "What is associated with Abnormal motor nerve conduction velocity?", "seeds": [ "Abnormal motor nerve conduction velocity" ], "gold_answer": "Abnormal nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03704", "question": "What phenotype is associated with Aganglionosis, total intestinal?", "seeds": [ "Aganglionosis, total intestinal" ], "gold_answer": "Total intestinal aganglionosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03705", "question": "What is associated with Tubo-ovarian abscess?", "seeds": [ "Tubo-ovarian abscess" ], "gold_answer": "Abnormal peritoneum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03706", "question": "What is associated with Thin toenail?", "seeds": [ "Thin toenail" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03707", "question": "What is associated with Urinary retention?", "seeds": [ "Urinary retention" ], "gold_answer": "Abnormality of the lower urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03708", "question": "What is associated with Mucopolysaccharidosis type 6, slowly progressing?", "seeds": [ "Mucopolysaccharidosis type 6, slowly progressing" ], "gold_answer": "ARSB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03709", "question": "What is associated with Chronic gastritis?", "seeds": [ "Chronic gastritis" ], "gold_answer": "Abnormal gastric mucosa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03710", "question": "What is associated with Hernia?", "seeds": [ "Hernia" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03711", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 43?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 43" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03712", "question": "What is associated with Visual snow syndrome?", "seeds": [ "Visual snow syndrome" ], "gold_answer": "Headache", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03713", "question": "What phenotype is associated with Autoinflammation with infantile enterocolitis?", "seeds": [ "Autoinflammation with infantile enterocolitis" ], "gold_answer": "Hypofibrinogenemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03714", "question": "What is associated with Abnormal CSF methionine concentration?", "seeds": [ "Abnormal CSF methionine concentration" ], "gold_answer": "Abnormal CSF aspartate family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03715", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 69?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 69" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03716", "question": "What is associated with Focal aware cognitive seizure with dyscalculia/acalculia?", "seeds": [ "Focal aware cognitive seizure with dyscalculia/acalculia" ], "gold_answer": "Focal cognitive seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03717", "question": "What is associated with Osteolytic defects of the distal phalanx of the 2nd toe?", "seeds": [ "Osteolytic defects of the distal phalanx of the 2nd toe" ], "gold_answer": "Abnormal distal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03718", "question": "What is associated with Rectal polyposis?", "seeds": [ "Rectal polyposis" ], "gold_answer": "Large intestinal polyposis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03719", "question": "What is associated with Renal tubular epithelial cell hemosiderin?", "seeds": [ "Renal tubular epithelial cell hemosiderin" ], "gold_answer": "Abnormal renal tubular epithelial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03720", "question": "What is associated with Midsystolic murmur?", "seeds": [ "Midsystolic murmur" ], "gold_answer": "Systolic heart murmur", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03721", "question": "What is associated with Abnormal abdomen morphology?", "seeds": [ "Abnormal abdomen morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03722", "question": "What phenotype is associated with Syntelencephaly?", "seeds": [ "Syntelencephaly" ], "gold_answer": "Respiratory distress", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03723", "question": "What is associated with Scleromyxedema?", "seeds": [ "Scleromyxedema" ], "gold_answer": "Azotemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03724", "question": "What phenotype is associated with CHIME syndrome?", "seeds": [ "CHIME syndrome" ], "gold_answer": "Aplastic clavicles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03725", "question": "What is associated with Generalized myoclonic-tonic-clonic seizure?", "seeds": [ "Generalized myoclonic-tonic-clonic seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03726", "question": "What is associated with Decreased CSF creatinine concentration?", "seeds": [ "Decreased CSF creatinine concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03727", "question": "What is associated with Osteopetrosis, autosomal dominant 3?", "seeds": [ "Osteopetrosis, autosomal dominant 3" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03728", "question": "What is associated with Statin exposure?", "seeds": [ "Statin exposure" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03729", "question": "What is associated with Tubular shadows?", "seeds": [ "Tubular shadows" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03730", "question": "What is associated with Congenital adrenal hypoplasia?", "seeds": [ "Congenital adrenal hypoplasia" ], "gold_answer": "Abnormal endocrine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03731", "question": "What is associated with Atrial fibrillation, familial, 14?", "seeds": [ "Atrial fibrillation, familial, 14" ], "gold_answer": "Atrial arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03732", "question": "What phenotype is associated with Posterior cortical atrophy?", "seeds": [ "Posterior cortical atrophy" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03733", "question": "What is associated with Glomerular C3 deposition?", "seeds": [ "Glomerular C3 deposition" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03734", "question": "What is associated with Prolonged retraction of penile foreskin?", "seeds": [ "Prolonged retraction of penile foreskin" ], "gold_answer": "Recent past medical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03735", "question": "What is associated with Ocular hypertension?", "seeds": [ "Ocular hypertension" ], "gold_answer": "Abnormal intraocular pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03736", "question": "What is associated with Reduced fetal femur/foot length ratio?", "seeds": [ "Reduced fetal femur/foot length ratio" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03737", "question": "What is associated with Deafness, X-linked 4?", "seeds": [ "Deafness, X-linked 4" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03738", "question": "What is associated with Punding?", "seeds": [ "Punding" ], "gold_answer": "Restricted or repetitive behaviors or interests", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03739", "question": "What phenotype is associated with Insect stings, hypersensitivity to?", "seeds": [ "Insect stings, hypersensitivity to" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03740", "question": "What is associated with Lipodystrophy-intellectual disability-deafness syndrome?", "seeds": [ "Lipodystrophy-intellectual disability-deafness syndrome" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03741", "question": "What is associated with Abnormal glucagon level?", "seeds": [ "Abnormal glucagon level" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03742", "question": "What is associated with Abnormal CSF lysine concentration?", "seeds": [ "Abnormal CSF lysine concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03743", "question": "What is associated with Progressive vitiligo?", "seeds": [ "Progressive vitiligo" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03744", "question": "What is associated with Abnormal immunoglobulin level in body fluid?", "seeds": [ "Abnormal immunoglobulin level in body fluid" ], "gold_answer": "Abnormal leukocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03745", "question": "What phenotype is associated with Myelolymphatic insufficiency?", "seeds": [ "Myelolymphatic insufficiency" ], "gold_answer": "Recurrent bacterial infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03746", "question": "What phenotype is associated with Severe combined immunodeficiency, X-linked?", "seeds": [ "Severe combined immunodeficiency, X-linked" ], "gold_answer": "Abnormal fingernail morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03747", "question": "What is associated with Developmental and epileptic encephalopathy 8?", "seeds": [ "Developmental and epileptic encephalopathy 8" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03748", "question": "What is associated with Tessadori-van Haaften neurodevelopmental syndrome 2?", "seeds": [ "Tessadori-van Haaften neurodevelopmental syndrome 2" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03749", "question": "What is associated with Leber optic atrophy and dystonia?", "seeds": [ "Leber optic atrophy and dystonia" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03750", "question": "What is associated with Rudimentary fibula?", "seeds": [ "Rudimentary fibula" ], "gold_answer": "Aplasia/hypoplasia involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03751", "question": "What is associated with Spermatogenic failure 37?", "seeds": [ "Spermatogenic failure 37" ], "gold_answer": "Abnormal sperm physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03752", "question": "What is associated with IgM heavy chain paraproteinemia?", "seeds": [ "IgM heavy chain paraproteinemia" ], "gold_answer": "Increased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03753", "question": "What is associated with Brachial plexus neuropathy?", "seeds": [ "Brachial plexus neuropathy" ], "gold_answer": "Abnormality of somatic nerve plexus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03754", "question": "What is associated with Groin pain?", "seeds": [ "Groin pain" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03755", "question": "What is associated with Ambiguous genitalia, female?", "seeds": [ "Ambiguous genitalia, female" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03756", "question": "What is associated with Granular casts?", "seeds": [ "Granular casts" ], "gold_answer": "Cylindruria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03757", "question": "What is associated with Premature ovarian failure 23?", "seeds": [ "Premature ovarian failure 23" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03758", "question": "What is associated with Ameliorated by oral zinc supplementation?", "seeds": [ "Ameliorated by oral zinc supplementation" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03759", "question": "What is associated with Fragmented epiphyses?", "seeds": [ "Fragmented epiphyses" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03760", "question": "What is associated with Abnormal axial skeleton morphology?", "seeds": [ "Abnormal axial skeleton morphology" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03761", "question": "What phenotype is associated with Nuchal bleb, familial?", "seeds": [ "Nuchal bleb, familial" ], "gold_answer": "Hydrops fetalis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03762", "question": "What is associated with Abnormal circulating tyrosine concentration?", "seeds": [ "Abnormal circulating tyrosine concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03763", "question": "What is associated with Male infertility?", "seeds": [ "Male infertility" ], "gold_answer": "Infertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03764", "question": "What is associated with Valgus instability of the elbow?", "seeds": [ "Valgus instability of the elbow" ], "gold_answer": "Elbow instability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03765", "question": "What is associated with Female-limited expression?", "seeds": [ "Female-limited expression" ], "gold_answer": "Inheritance qualifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03766", "question": "What is associated with Small epiphysis of the distal phalanx of the 2nd finger?", "seeds": [ "Small epiphysis of the distal phalanx of the 2nd finger" ], "gold_answer": "Abnormality of the distal phalanx of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03767", "question": "What is associated with Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome?", "seeds": [ "Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" ], "gold_answer": "Sudden death", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03768", "question": "What is associated with Absent cervical vertebra?", "seeds": [ "Absent cervical vertebra" ], "gold_answer": "Absent vertebra", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03769", "question": "What is associated with Ventricular arrhythmia?", "seeds": [ "Ventricular arrhythmia" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03770", "question": "What phenotype is associated with Lathosterolosis?", "seeds": [ "Lathosterolosis" ], "gold_answer": "Hyperbilirubinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03771", "question": "What is associated with Abnormal nail surface?", "seeds": [ "Abnormal nail surface" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03772", "question": "What is associated with Dysmenorrhea?", "seeds": [ "Dysmenorrhea" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03773", "question": "What is associated with Plectin-related limb-girdle muscular dystrophy R17?", "seeds": [ "Plectin-related limb-girdle muscular dystrophy R17" ], "gold_answer": "Abnormal tendon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03774", "question": "What is associated with Leber congenital amaurosis?", "seeds": [ "Leber congenital amaurosis" ], "gold_answer": "Abnormal pupillary function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03775", "question": "What is associated with Lactescent serum?", "seeds": [ "Lactescent serum" ], "gold_answer": "Hyperlipidemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03776", "question": "What is associated with Abnormality of the orbital region?", "seeds": [ "Abnormality of the orbital region" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03777", "question": "What is associated with Anti-signal recognition particle antibody positivity?", "seeds": [ "Anti-signal recognition particle antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03778", "question": "What is associated with Arcuate intimal/medial venulitis?", "seeds": [ "Arcuate intimal/medial venulitis" ], "gold_answer": "Abnormal arcuate vein intima/media morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03779", "question": "What is associated with Late onset atopic dermatitis?", "seeds": [ "Late onset atopic dermatitis" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03780", "question": "What is associated with Persistent falcine venous sinus?", "seeds": [ "Persistent falcine venous sinus" ], "gold_answer": "Abnormal cerebral vein morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03781", "question": "What is associated with Congenital foot contraction deformities?", "seeds": [ "Congenital foot contraction deformities" ], "gold_answer": "Flexion contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03782", "question": "What is associated with Localized pulmonary hemorrhage?", "seeds": [ "Localized pulmonary hemorrhage" ], "gold_answer": "Abnormality of blood circulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03783", "question": "What is associated with Vocal cord paralysis and ptosis?", "seeds": [ "Vocal cord paralysis and ptosis" ], "gold_answer": "Abnormality of the voice", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03784", "question": "What is associated with Abnormal urine output?", "seeds": [ "Abnormal urine output" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03785", "question": "What is associated with Thoracolumbar scoliosis?", "seeds": [ "Thoracolumbar scoliosis" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03786", "question": "What is associated with Polyembryoma?", "seeds": [ "Polyembryoma" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03787", "question": "What is associated with Sclerotic vertebral endplates?", "seeds": [ "Sclerotic vertebral endplates" ], "gold_answer": "Abnormality of the vertebral endplates", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03788", "question": "What is associated with Reduced proximal interphalangeal joint space?", "seeds": [ "Reduced proximal interphalangeal joint space" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03789", "question": "What is associated with Absent coronary sinus?", "seeds": [ "Absent coronary sinus" ], "gold_answer": "Abnormal cardiac atrium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03790", "question": "What is associated with Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease?", "seeds": [ "Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" ], "gold_answer": "TNNI3K", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03791", "question": "What is associated with Hereditary persistence of fetal hemoglobin-intellectual disability syndrome?", "seeds": [ "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome" ], "gold_answer": "BCL11A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03792", "question": "What phenotype is associated with Proximal 5th toe symphalangism?", "seeds": [ "Proximal 5th toe symphalangism" ], "gold_answer": "Elbow ankylosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03793", "question": "What phenotype is associated with Warburg micro syndrome 3?", "seeds": [ "Warburg micro syndrome 3" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03794", "question": "What is associated with Congruous homonymous hemianopia?", "seeds": [ "Congruous homonymous hemianopia" ], "gold_answer": "Hemianopia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03795", "question": "What is associated with Elevated erythrocyte galactose-1-phosphate concentration?", "seeds": [ "Elevated erythrocyte galactose-1-phosphate concentration" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03796", "question": "What is associated with Abnormal foveal morphology on macular OCT?", "seeds": [ "Abnormal foveal morphology on macular OCT" ], "gold_answer": "Abnormal posterior segment imaging", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03797", "question": "What is associated with Charcot-Marie-Tooth disease, recessive intermediate A?", "seeds": [ "Charcot-Marie-Tooth disease, recessive intermediate A" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03798", "question": "What is associated with N-acetylaspartate deficiency?", "seeds": [ "N-acetylaspartate deficiency" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03799", "question": "What is associated with Enlarged peroxisomes?", "seeds": [ "Enlarged peroxisomes" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03800", "question": "What is associated with Pancreatitis, hereditary?", "seeds": [ "Pancreatitis, hereditary" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03801", "question": "What is associated with Fractured distal tarsal bone 2?", "seeds": [ "Fractured distal tarsal bone 2" ], "gold_answer": "Abnormality of the tarsal bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03802", "question": "What is associated with Dahlberg-Borer-Newcomer syndrome?", "seeds": [ "Dahlberg-Borer-Newcomer syndrome" ], "gold_answer": "Abnormality of the parathyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03803", "question": "What phenotype is associated with Leukodystrophy, hypomyelinating, 24?", "seeds": [ "Leukodystrophy, hypomyelinating, 24" ], "gold_answer": "Ventriculomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03804", "question": "What is associated with Focal impaired awareness motor seizure with negative myoclonus?", "seeds": [ "Focal impaired awareness motor seizure with negative myoclonus" ], "gold_answer": "Dialeptic seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03805", "question": "What is associated with Osteogenesis imperfecta type 2?", "seeds": [ "Osteogenesis imperfecta type 2" ], "gold_answer": "P3H1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03806", "question": "What is associated with Nasolacrimal sac papilloma?", "seeds": [ "Nasolacrimal sac papilloma" ], "gold_answer": "Nasolacrimal sac obstruction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03807", "question": "What is associated with Staring gaze?", "seeds": [ "Staring gaze" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03808", "question": "What is associated with Biceps areflexia?", "seeds": [ "Biceps areflexia" ], "gold_answer": "Areflexia of upper limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03809", "question": "What is associated with Reduced leukocyte arylsulfatase A activity?", "seeds": [ "Reduced leukocyte arylsulfatase A activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03810", "question": "What is associated with Abnormal atrioventricular connection?", "seeds": [ "Abnormal atrioventricular connection" ], "gold_answer": "Abnormal connection of the cardiac segments", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03811", "question": "What is associated with Anomalous rib insertion to vertebrae?", "seeds": [ "Anomalous rib insertion to vertebrae" ], "gold_answer": "Abnormal rib morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03812", "question": "What is associated with Accessory ectopic thyroid tissue?", "seeds": [ "Accessory ectopic thyroid tissue" ], "gold_answer": "Ectopic thyroid", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03813", "question": "What phenotype is associated with Xq12-q13.3 duplication syndrome?", "seeds": [ "Xq12-q13.3 duplication syndrome" ], "gold_answer": "Cleft earlobe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03814", "question": "What is associated with Congenital malformation of the great arteries?", "seeds": [ "Congenital malformation of the great arteries" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03815", "question": "What is associated with 1-minute APGAR score of 4?", "seeds": [ "1-minute APGAR score of 4" ], "gold_answer": "Low 1-minute APGAR score", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03816", "question": "What is associated with Hypoplastic right ventricle?", "seeds": [ "Hypoplastic right ventricle" ], "gold_answer": "Congenital malformation of the right heart", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03817", "question": "What is associated with Bronchial hemorrhage?", "seeds": [ "Bronchial hemorrhage" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03818", "question": "What is associated with Hypervalinemia?", "seeds": [ "Hypervalinemia" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03819", "question": "What is associated with Reduced erythrocyte porphobilinogen deaminase activity?", "seeds": [ "Reduced erythrocyte porphobilinogen deaminase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03820", "question": "What is associated with Atrial situs ambiguous?", "seeds": [ "Atrial situs ambiguous" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03821", "question": "What is associated with Retropharyngeal hemangioma?", "seeds": [ "Retropharyngeal hemangioma" ], "gold_answer": "Vascular neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03822", "question": "What is associated with Abnormality of iron homeostasis?", "seeds": [ "Abnormality of iron homeostasis" ], "gold_answer": "Abnormal blood ion concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03823", "question": "What is associated with Pediculosis capitis?", "seeds": [ "Pediculosis capitis" ], "gold_answer": "Positive skin infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03824", "question": "What is associated with Reduced total lung capacity?", "seeds": [ "Reduced total lung capacity" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03825", "question": "What is associated with Hodgkin morphology cells?", "seeds": [ "Hodgkin morphology cells" ], "gold_answer": "Abnormal lymph-node biospecimen", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03826", "question": "What is associated with Postorgasmic illness syndrome?", "seeds": [ "Postorgasmic illness syndrome" ], "gold_answer": "Abnormality of skin adnexa physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03827", "question": "What is associated with Subcortical U fiber lesion?", "seeds": [ "Subcortical U fiber lesion" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03828", "question": "What is associated with Impaired binding of factor VIII to VWF?", "seeds": [ "Impaired binding of factor VIII to VWF" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03829", "question": "What is associated with Fatty casts?", "seeds": [ "Fatty casts" ], "gold_answer": "Acellular urinary casts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03830", "question": "What is associated with SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome?", "seeds": [ "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome" ], "gold_answer": "SETD2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03831", "question": "What is associated with Decreased adipose tissue around neck?", "seeds": [ "Decreased adipose tissue around neck" ], "gold_answer": "Decreased adipose tissue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03832", "question": "What is associated with Dyskeratosis congenita, autosomal recessive 8?", "seeds": [ "Dyskeratosis congenita, autosomal recessive 8" ], "gold_answer": "Abnormality of the scalp hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03833", "question": "What is associated with Reflex tearing?", "seeds": [ "Reflex tearing" ], "gold_answer": "Epiphora", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03834", "question": "What is associated with Polycystic kidney disease 7?", "seeds": [ "Polycystic kidney disease 7" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03835", "question": "What is associated with Aortic aneurysm, abdominal?", "seeds": [ "Aortic aneurysm, abdominal" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03836", "question": "What is associated with Phenotypic abnormality?", "seeds": [ "Phenotypic abnormality" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03837", "question": "What is associated with Acth deficiency, isolated?", "seeds": [ "Acth deficiency, isolated" ], "gold_answer": "Abnormality of circulating cortisol level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03838", "question": "What is associated with Skin pit?", "seeds": [ "Skin pit" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03839", "question": "What is associated with EEG with focal spike waves?", "seeds": [ "EEG with focal spike waves" ], "gold_answer": "EEG with focal epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03840", "question": "What is associated with Dilatation of celiac artery?", "seeds": [ "Dilatation of celiac artery" ], "gold_answer": "Dilatation of an abdominal artery", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03841", "question": "What is associated with Epidermolysis bullosa, junctional 2A, intermediate?", "seeds": [ "Epidermolysis bullosa, junctional 2A, intermediate" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03842", "question": "What is associated with Developmental and epileptic encephalopathy 89?", "seeds": [ "Developmental and epileptic encephalopathy 89" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03843", "question": "What is associated with Lower limb dysmetria?", "seeds": [ "Lower limb dysmetria" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03844", "question": "What is associated with Ventricular hypertrophy?", "seeds": [ "Ventricular hypertrophy" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03845", "question": "What is associated with Peroxisome biogenesis disorder 6B?", "seeds": [ "Peroxisome biogenesis disorder 6B" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03846", "question": "What is associated with Duodenal atresia?", "seeds": [ "Duodenal atresia" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03847", "question": "What is associated with Bullet-shaped distal phalanx of the 2nd toe?", "seeds": [ "Bullet-shaped distal phalanx of the 2nd toe" ], "gold_answer": "Abnormal second toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03848", "question": "What is associated with Abnormally straight spine?", "seeds": [ "Abnormally straight spine" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03849", "question": "What is associated with Elevated urinary N-carbamyl-beta-aminoisobutyric acid level?", "seeds": [ "Elevated urinary N-carbamyl-beta-aminoisobutyric acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03850", "question": "What is associated with Organized thrombi within interlobular vein lumen?", "seeds": [ "Organized thrombi within interlobular vein lumen" ], "gold_answer": "Abnormal intrarenal vein morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03851", "question": "What is associated with Transposition of the great arteries, dextro-looped 1?", "seeds": [ "Transposition of the great arteries, dextro-looped 1" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03852", "question": "What is associated with Absent hand?", "seeds": [ "Absent hand" ], "gold_answer": "Transverse terminal limb defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03853", "question": "What is associated with Hypertelorism-hypospadias-polysyndactyly syndrome?", "seeds": [ "Hypertelorism-hypospadias-polysyndactyly syndrome" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03854", "question": "What is associated with Rhizomelic chondrodysplasia punctata type 5?", "seeds": [ "Rhizomelic chondrodysplasia punctata type 5" ], "gold_answer": "PEX5", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_03855", "question": "What is associated with Onychoheterotopia?", "seeds": [ "Onychoheterotopia" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03856", "question": "What is associated with Absent in utero ossification of vertebral bodies?", "seeds": [ "Absent in utero ossification of vertebral bodies" ], "gold_answer": "Abnormally ossified vertebrae", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03857", "question": "What is associated with Abnormal oral morphology?", "seeds": [ "Abnormal oral morphology" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03858", "question": "What is associated with Deafness, autosomal recessive 18B?", "seeds": [ "Deafness, autosomal recessive 18B" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03859", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 35?", "seeds": [ "Ciliary dyskinesia, primary, 35" ], "gold_answer": "Meckel diverticulum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03860", "question": "What is associated with Pain at the lateral aspect of the knee?", "seeds": [ "Pain at the lateral aspect of the knee" ], "gold_answer": "Lower limb pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03861", "question": "What is associated with Amyloidosis, hereditary systemic 5?", "seeds": [ "Amyloidosis, hereditary systemic 5" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03862", "question": "What is associated with Aggressive systemic mastocytosis?", "seeds": [ "Aggressive systemic mastocytosis" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03863", "question": "What is associated with Maternal hypertension?", "seeds": [ "Maternal hypertension" ], "gold_answer": "Pregnancy history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03864", "question": "What is associated with Anterior segment dysgenesis 1?", "seeds": [ "Anterior segment dysgenesis 1" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03865", "question": "What is associated with Reduced cystathionine beta-synthase activity in cultured fibroblasts?", "seeds": [ "Reduced cystathionine beta-synthase activity in cultured fibroblasts" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03866", "question": "What phenotype is associated with COASY protein-associated neurodegeneration?", "seeds": [ "COASY protein-associated neurodegeneration" ], "gold_answer": "Cognitive impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03867", "question": "What is associated with Digital constriction ring?", "seeds": [ "Digital constriction ring" ], "gold_answer": "Abnormal placental membrane morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03868", "question": "What is associated with Hemiplegia/hemiparesis?", "seeds": [ "Hemiplegia/hemiparesis" ], "gold_answer": "Weakness due to upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03869", "question": "What is associated with Chronic neutrophilic leukemia?", "seeds": [ "Chronic neutrophilic leukemia" ], "gold_answer": "CSF3R", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_03870", "question": "What is associated with Vaginal stricture?", "seeds": [ "Vaginal stricture" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03871", "question": "What is associated with Renal lymphocytic tubulitis?", "seeds": [ "Renal lymphocytic tubulitis" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03872", "question": "What is associated with X-linked intellectual disability due to GRIA3 mutations?", "seeds": [ "X-linked intellectual disability due to GRIA3 mutations" ], "gold_answer": "Abnormality of facial soft tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03873", "question": "What is associated with Abnormal cerebellar cortex morphology?", "seeds": [ "Abnormal cerebellar cortex morphology" ], "gold_answer": "Abnormal hindbrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03874", "question": "What is associated with Hypoplasia of the frontal bone?", "seeds": [ "Hypoplasia of the frontal bone" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03875", "question": "What is associated with Fanconi renotubular syndrome 1?", "seeds": [ "Fanconi renotubular syndrome 1" ], "gold_answer": "Abnormality of alkaline phosphatase level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03876", "question": "What is associated with Increased anti-fungi IgE antibody level?", "seeds": [ "Increased anti-fungi IgE antibody level" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03877", "question": "What is associated with 2-4 toe syndactyly?", "seeds": [ "2-4 toe syndactyly" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03878", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 14?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 14" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03879", "question": "What is associated with Episodic ataxia, type 6?", "seeds": [ "Episodic ataxia, type 6" ], "gold_answer": "Auditory hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03880", "question": "What is associated with Duplication of the proximal phalanx of hand?", "seeds": [ "Duplication of the proximal phalanx of hand" ], "gold_answer": "Duplication of bones involving the upper extremities", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03881", "question": "What is associated with Increased lymph-node cellular CD19 expression?", "seeds": [ "Increased lymph-node cellular CD19 expression" ], "gold_answer": "Abnormal level of lymph-node cellular CD19 expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03882", "question": "What phenotype is associated with Aganglionosis, total intestinal?", "seeds": [ "Aganglionosis, total intestinal" ], "gold_answer": "Total intestinal aganglionosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03883", "question": "What is associated with Intrahepatic cholestasis with episodic jaundice?", "seeds": [ "Intrahepatic cholestasis with episodic jaundice" ], "gold_answer": "Abnormal hepatobiliary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03884", "question": "What is associated with Pulmonary Langerhans cell histiocytosis?", "seeds": [ "Pulmonary Langerhans cell histiocytosis" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03885", "question": "What is associated with Delivery by Odon device?", "seeds": [ "Delivery by Odon device" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03886", "question": "What is associated with Renal medullary interstitial inflammation?", "seeds": [ "Renal medullary interstitial inflammation" ], "gold_answer": "Renal interstitial inflammation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03887", "question": "What is associated with Arteriovenous malformation?", "seeds": [ "Arteriovenous malformation" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03888", "question": "What is associated with Increased circulating iron concentration?", "seeds": [ "Increased circulating iron concentration" ], "gold_answer": "Abnormality of iron homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03889", "question": "What is associated with Pressure-induced localized lipoatrophy?", "seeds": [ "Pressure-induced localized lipoatrophy" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03890", "question": "What is associated with FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5?", "seeds": [ "FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03891", "question": "What is associated with Methionine malabsorption syndrome?", "seeds": [ "Methionine malabsorption syndrome" ], "gold_answer": "Hypopigmentation of hair", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03892", "question": "What phenotype is associated with Noonan syndrome 9?", "seeds": [ "Noonan syndrome 9" ], "gold_answer": "Hypoplastic aortic arch", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03893", "question": "What is associated with Absent foot?", "seeds": [ "Absent foot" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03894", "question": "What is associated with Increased circulating creatine kinase MM isoform?", "seeds": [ "Increased circulating creatine kinase MM isoform" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03895", "question": "What is associated with Short REM sleep?", "seeds": [ "Short REM sleep" ], "gold_answer": "Abnormal sleep architecture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03896", "question": "What is associated with Accessory spleen?", "seeds": [ "Accessory spleen" ], "gold_answer": "Supernumerary spleens", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03897", "question": "What is associated with Apnea, obstructive sleep?", "seeds": [ "Apnea, obstructive sleep" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03898", "question": "What is associated with Increased CSF homocarnosine concentration?", "seeds": [ "Increased CSF homocarnosine concentration" ], "gold_answer": "Abnormal CSF homocarnosine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03899", "question": "What is associated with Fibrillar glomerular subepithelial deposits?", "seeds": [ "Fibrillar glomerular subepithelial deposits" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03900", "question": "What is associated with Intellectual developmental disorder, X-linked 109?", "seeds": [ "Intellectual developmental disorder, X-linked 109" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03901", "question": "What is associated with Renal tubulopathy-encephalopathy-liver failure syndrome?", "seeds": [ "Renal tubulopathy-encephalopathy-liver failure syndrome" ], "gold_answer": "BCS1L", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03902", "question": "What is associated with Refractory drug response?", "seeds": [ "Refractory drug response" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03903", "question": "What is associated with Acrodysostosis 2 with or without hormone resistance?", "seeds": [ "Acrodysostosis 2 with or without hormone resistance" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03904", "question": "What is associated with Ileal stricture?", "seeds": [ "Ileal stricture" ], "gold_answer": "Abnormal ileum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03905", "question": "What is associated with Radial deviation of the 3rd finger?", "seeds": [ "Radial deviation of the 3rd finger" ], "gold_answer": "Abnormal 3rd finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03906", "question": "What is associated with Stapes ankylosis?", "seeds": [ "Stapes ankylosis" ], "gold_answer": "Abnormal middle ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03907", "question": "What is associated with Abnormal circulating biopterin concentration?", "seeds": [ "Abnormal circulating biopterin concentration" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03908", "question": "What phenotype is associated with Short-Rib thoracic dysplasia 17 with or without polydactyly?", "seeds": [ "Short-Rib thoracic dysplasia 17 with or without polydactyly" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03909", "question": "What is associated with Anti-myelin-associated glycoprotein antibody positivity?", "seeds": [ "Anti-myelin-associated glycoprotein antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03910", "question": "What is associated with Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome?", "seeds": [ "Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome" ], "gold_answer": "SRRM2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_03911", "question": "What is associated with Recurrent Haemophilus influenzae infections?", "seeds": [ "Recurrent Haemophilus influenzae infections" ], "gold_answer": "Recurrent bacterial infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03912", "question": "What is associated with Combined oxidative phosphorylation deficiency 42?", "seeds": [ "Combined oxidative phosphorylation deficiency 42" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03913", "question": "What is associated with Focal sensory seizure with cephalic sensation?", "seeds": [ "Focal sensory seizure with cephalic sensation" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03914", "question": "What is associated with Congenital sensorineural hearing impairment?", "seeds": [ "Congenital sensorineural hearing impairment" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03915", "question": "What is associated with Epilepsy, reading?", "seeds": [ "Epilepsy, reading" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03916", "question": "What is associated with Abnormal peripheral action potential amplitude?", "seeds": [ "Abnormal peripheral action potential amplitude" ], "gold_answer": "Abnormality of peripheral nerve conduction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03917", "question": "What is associated with 2-3 toe syndactyly?", "seeds": [ "2-3 toe syndactyly" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03918", "question": "What is associated with Arrhythmogenic right ventricular dysplasia, familial, 13?", "seeds": [ "Arrhythmogenic right ventricular dysplasia, familial, 13" ], "gold_answer": "Tachycardia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03919", "question": "What is associated with Polycythemia?", "seeds": [ "Polycythemia" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03920", "question": "What is associated with Remnants of the hyaloid vascular system?", "seeds": [ "Remnants of the hyaloid vascular system" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03921", "question": "What is associated with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3?", "seeds": [ "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" ], "gold_answer": "Abnormal scapula morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03922", "question": "What is associated with Crumpled humerus?", "seeds": [ "Crumpled humerus" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03923", "question": "What is associated with Reticular pattern on pulmonary HRCT?", "seeds": [ "Reticular pattern on pulmonary HRCT" ], "gold_answer": "Pulmonary interstitial high-resolution computed tomography abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03924", "question": "What is associated with Abnormal circulating glucose-6-phosphate dehydrogenase concentration?", "seeds": [ "Abnormal circulating glucose-6-phosphate dehydrogenase concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03925", "question": "What is associated with Hemangiomas, cavernous, of face and supraumbilical midline raphe?", "seeds": [ "Hemangiomas, cavernous, of face and supraumbilical midline raphe" ], "gold_answer": "Cavernous hemangioma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03926", "question": "What is associated with Congenital factor X deficiency?", "seeds": [ "Congenital factor X deficiency" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03927", "question": "What phenotype is associated with Mitochondrial complex III deficiency, nuclear type 1?", "seeds": [ "Mitochondrial complex III deficiency, nuclear type 1" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03928", "question": "What is associated with Abnormal olecranon morphology?", "seeds": [ "Abnormal olecranon morphology" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03929", "question": "What is associated with Triangular shaped phalanges of the 5th toe?", "seeds": [ "Triangular shaped phalanges of the 5th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03930", "question": "What is associated with GABA-transaminase deficiency?", "seeds": [ "GABA-transaminase deficiency" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03931", "question": "What is associated with Adult idiopathic neutropenia?", "seeds": [ "Adult idiopathic neutropenia" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03932", "question": "What is associated with Gonadotropin deficiency?", "seeds": [ "Gonadotropin deficiency" ], "gold_answer": "Abnormality of the anterior pituitary", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03933", "question": "What is associated with Preretinal hemorrhage?", "seeds": [ "Preretinal hemorrhage" ], "gold_answer": "Fundus hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03934", "question": "What is associated with Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases?", "seeds": [ "Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03935", "question": "What phenotype is associated with 20q11.2 microdeletion syndrome?", "seeds": [ "20q11.2 microdeletion syndrome" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03936", "question": "What is associated with Stippling of the epiphysis of the proximal phalanx of the 2nd toe?", "seeds": [ "Stippling of the epiphysis of the proximal phalanx of the 2nd toe" ], "gold_answer": "Epiphyseal stippling of toe phalanges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03937", "question": "What is associated with Deviated nasal tip?", "seeds": [ "Deviated nasal tip" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03938", "question": "What is associated with Abnormal mesentery morphology?", "seeds": [ "Abnormal mesentery morphology" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03939", "question": "What is associated with Wide hamate bone?", "seeds": [ "Wide hamate bone" ], "gold_answer": "Large hamate bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03940", "question": "What is associated with Hashimoto thyroiditis?", "seeds": [ "Hashimoto thyroiditis" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03941", "question": "What is associated with Sharp?", "seeds": [ "Sharp" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03942", "question": "What is associated with Adrenocortical carcinoma?", "seeds": [ "Adrenocortical carcinoma" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03943", "question": "What is associated with Increased proportion of HLA DR+ CD4+ T cells?", "seeds": [ "Increased proportion of HLA DR+ CD4+ T cells" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03944", "question": "What is associated with Abnormal unswitched memory B cell proportion?", "seeds": [ "Abnormal unswitched memory B cell proportion" ], "gold_answer": "Abnormal B cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03945", "question": "What is associated with Neurodevelopmental disorder with or without early-onset generalized epilepsy?", "seeds": [ "Neurodevelopmental disorder with or without early-onset generalized epilepsy" ], "gold_answer": "Reduced attention regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03946", "question": "What is associated with Combined oxidative phosphorylation deficiency 1?", "seeds": [ "Combined oxidative phosphorylation deficiency 1" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03947", "question": "What is associated with Chylous ascites?", "seeds": [ "Chylous ascites" ], "gold_answer": "Abnormality of pancreas physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03948", "question": "What is associated with Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect?", "seeds": [ "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03949", "question": "What phenotype is associated with Basan syndrome?", "seeds": [ "Basan syndrome" ], "gold_answer": "Epidermal acanthosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03950", "question": "What is associated with Hallux sesamoid injury?", "seeds": [ "Hallux sesamoid injury" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03951", "question": "What is associated with Metaphyseal chevron deformity?", "seeds": [ "Metaphyseal chevron deformity" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03952", "question": "What is associated with Tortuous appearance of the stomach?", "seeds": [ "Tortuous appearance of the stomach" ], "gold_answer": "Abnormal stomach morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03953", "question": "What is associated with Cryoglobulinemia, familial mixed?", "seeds": [ "Cryoglobulinemia, familial mixed" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03954", "question": "What is associated with Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development?", "seeds": [ "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development" ], "gold_answer": "Abnormality of the philtrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03955", "question": "What is associated with Recurrent lower respiratory tract infections?", "seeds": [ "Recurrent lower respiratory tract infections" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03956", "question": "What is associated with Marburg hemorrhagic fever?", "seeds": [ "Marburg hemorrhagic fever" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03957", "question": "What is associated with Hypohidrotic ectodermal dysplasia with immunodeficiency?", "seeds": [ "Hypohidrotic ectodermal dysplasia with immunodeficiency" ], "gold_answer": "Hypohidrosis or hyperhidrosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03958", "question": "What is associated with Calvarial osteosclerosis?", "seeds": [ "Calvarial osteosclerosis" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03959", "question": "What is associated with Partial atrioventricular septal defect?", "seeds": [ "Partial atrioventricular septal defect" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03960", "question": "What is associated with Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT?", "seeds": [ "Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT" ], "gold_answer": "Abnormal pulmonary interstitial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03961", "question": "What is associated with Nesidioblastosis?", "seeds": [ "Nesidioblastosis" ], "gold_answer": "Abnormal pancreas morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03962", "question": "What is associated with Dysgyria with normal cortical thickness?", "seeds": [ "Dysgyria with normal cortical thickness" ], "gold_answer": "Abnormal cortical gyration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03963", "question": "What is associated with White hair?", "seeds": [ "White hair" ], "gold_answer": "Hypopigmentation of hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03964", "question": "What is associated with Cerebral degeneration?", "seeds": [ "Cerebral degeneration" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03965", "question": "What phenotype is associated with Microcephaly-seizures-intellectual disability-heart disease syndrome?", "seeds": [ "Microcephaly-seizures-intellectual disability-heart disease syndrome" ], "gold_answer": "Abnormal sternum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03966", "question": "What is associated with Carbuncle?", "seeds": [ "Carbuncle" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03967", "question": "What phenotype is associated with Hereditary renal hypouricemia?", "seeds": [ "Hereditary renal hypouricemia" ], "gold_answer": "Decreased glomerular filtration rate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03968", "question": "What is associated with Dopa-responsive dystonia due to sepiapterin reductase deficiency?", "seeds": [ "Dopa-responsive dystonia due to sepiapterin reductase deficiency" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03969", "question": "What is associated with Bitemporal hemianopia?", "seeds": [ "Bitemporal hemianopia" ], "gold_answer": "Hemianopia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03970", "question": "What is associated with Altman type II sacrococcygeal teratoma?", "seeds": [ "Altman type II sacrococcygeal teratoma" ], "gold_answer": "Abnormal sacrum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03971", "question": "What is associated with Night blindness, congenital stationary, autosomal dominant 2?", "seeds": [ "Night blindness, congenital stationary, autosomal dominant 2" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03972", "question": "What is associated with Deafness, autosomal recessive 47?", "seeds": [ "Deafness, autosomal recessive 47" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03973", "question": "What is associated with Dynein arm defect of respiratory motile cilia?", "seeds": [ "Dynein arm defect of respiratory motile cilia" ], "gold_answer": "Abnormal respiratory motile cilium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03974", "question": "What is associated with Delayed elbow epiphyseal ossification?", "seeds": [ "Delayed elbow epiphyseal ossification" ], "gold_answer": "Delayed upper limb epiphyseal ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03975", "question": "What is associated with Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome?", "seeds": [ "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03976", "question": "What is associated with Abnormal immune system morphology?", "seeds": [ "Abnormal immune system morphology" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03977", "question": "What is associated with Schmorl's node?", "seeds": [ "Schmorl's node" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03978", "question": "What is associated with Appendicular location?", "seeds": [ "Appendicular location" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03979", "question": "What is associated with Craniodigital-intellectual disability syndrome?", "seeds": [ "Craniodigital-intellectual disability syndrome" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03980", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 57?", "seeds": [ "Autosomal recessive spastic paraplegia type 57" ], "gold_answer": "Difficulty standing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03981", "question": "What phenotype is associated with Gastrointestinal stromal tumor?", "seeds": [ "Gastrointestinal stromal tumor" ], "gold_answer": "Spinal canal stenosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03982", "question": "What is associated with Ridged cranial sutures?", "seeds": [ "Ridged cranial sutures" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03983", "question": "What is associated with Anarthria?", "seeds": [ "Anarthria" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03984", "question": "What is associated with Abnormal circulating superoxide dismutase activity?", "seeds": [ "Abnormal circulating superoxide dismutase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03985", "question": "What is associated with Accumulation of lipid droplets in small-bowel enterocytes?", "seeds": [ "Accumulation of lipid droplets in small-bowel enterocytes" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03986", "question": "What is associated with Gigantiform cementoma, familial?", "seeds": [ "Gigantiform cementoma, familial" ], "gold_answer": "Impacted tooth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03987", "question": "What phenotype is associated with Dubowitz syndrome?", "seeds": [ "Dubowitz syndrome" ], "gold_answer": "Constipation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_03988", "question": "What is associated with Decreased delta-aminolevulinate dehydratase activity?", "seeds": [ "Decreased delta-aminolevulinate dehydratase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03989", "question": "What is associated with Noonan syndrome?", "seeds": [ "Noonan syndrome" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03990", "question": "What is associated with Abnormal respiratory system morphology?", "seeds": [ "Abnormal respiratory system morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03991", "question": "What is associated with Yellow fever?", "seeds": [ "Yellow fever" ], "gold_answer": "Decreased urine output", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03992", "question": "What is associated with Amblyopia?", "seeds": [ "Amblyopia" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03993", "question": "What is associated with Ventricular bigeminy?", "seeds": [ "Ventricular bigeminy" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03994", "question": "What is associated with Testicular ischemia?", "seeds": [ "Testicular ischemia" ], "gold_answer": "Tissue ischemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03995", "question": "What is associated with Keratoconjunctivitis?", "seeds": [ "Keratoconjunctivitis" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_03996", "question": "What is associated with Aplasia/Hypoplasia of the inner ear?", "seeds": [ "Aplasia/Hypoplasia of the inner ear" ], "gold_answer": "Aplasia/Hypoplasia of the ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_03997", "question": "What is associated with Abnormality of corneal size?", "seeds": [ "Abnormality of corneal size" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03998", "question": "What is associated with Enuresis, nocturnal, 2?", "seeds": [ "Enuresis, nocturnal, 2" ], "gold_answer": "Enuresis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_03999", "question": "What phenotype is associated with Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome?", "seeds": [ "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome" ], "gold_answer": "Micrognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04000", "question": "What phenotype is associated with Major affective disorder 1?", "seeds": [ "Major affective disorder 1" ], "gold_answer": "Mania", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04001", "question": "What is associated with Multinucleated giant chondrocytes in epiphyseal cartilage?", "seeds": [ "Multinucleated giant chondrocytes in epiphyseal cartilage" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04002", "question": "What is associated with Increased CSF lysine concentration?", "seeds": [ "Increased CSF lysine concentration" ], "gold_answer": "Abnormal CSF aspartate family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04003", "question": "What is associated with Decreased circulating serum insulin-like growth factor 1 concentration?", "seeds": [ "Decreased circulating serum insulin-like growth factor 1 concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04004", "question": "What is associated with Inferior oblique muscle weakness?", "seeds": [ "Inferior oblique muscle weakness" ], "gold_answer": "Abnormal extraocular muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04005", "question": "What is associated with Adipocyte hypertrophy?", "seeds": [ "Adipocyte hypertrophy" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04006", "question": "What phenotype is associated with Autosomal recessive ataxia due to ubiquinone deficiency?", "seeds": [ "Autosomal recessive ataxia due to ubiquinone deficiency" ], "gold_answer": "Gynecomastia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04007", "question": "What is associated with Atrial septal defect 1?", "seeds": [ "Atrial septal defect 1" ], "gold_answer": "GDF1", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_04008", "question": "What is associated with Cone-shaped epiphysis of the distal phalanx of the thumb?", "seeds": [ "Cone-shaped epiphysis of the distal phalanx of the thumb" ], "gold_answer": "Cone-shaped epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04009", "question": "What is associated with Unesterified cholesterol accumulation in cultured fibroblasts?", "seeds": [ "Unesterified cholesterol accumulation in cultured fibroblasts" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04010", "question": "What is associated with Ambiguous genitalia?", "seeds": [ "Ambiguous genitalia" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04011", "question": "What is associated with Retinal astrocytic hamartoma?", "seeds": [ "Retinal astrocytic hamartoma" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04012", "question": "What is associated with Primary lateral sclerosis, adult?", "seeds": [ "Primary lateral sclerosis, adult" ], "gold_answer": "Tetraplegia/tetraparesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04013", "question": "What phenotype is associated with Spinocerebellar ataxia type 42?", "seeds": [ "Spinocerebellar ataxia type 42" ], "gold_answer": "Dysphagia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04014", "question": "What is associated with Scheie syndrome?", "seeds": [ "Scheie syndrome" ], "gold_answer": "Eclabion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04015", "question": "What is associated with Pinhole visual acuity 0.4 LogMAR?", "seeds": [ "Pinhole visual acuity 0.4 LogMAR" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04016", "question": "What is associated with Shashi-Pena syndrome?", "seeds": [ "Shashi-Pena syndrome" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04017", "question": "What is associated with Symphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic arch?", "seeds": [ "Symphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic arch" ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04018", "question": "What is associated with Distal amyotrophy?", "seeds": [ "Distal amyotrophy" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04019", "question": "What is associated with Spinocerebellar ataxia type 4?", "seeds": [ "Spinocerebellar ataxia type 4" ], "gold_answer": "Decreased/absent ankle reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04020", "question": "What is associated with Congenital unilateral hypoplasia of depressor anguli oris?", "seeds": [ "Congenital unilateral hypoplasia of depressor anguli oris" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04021", "question": "What is associated with Bone marrow myeloid vacuolization?", "seeds": [ "Bone marrow myeloid vacuolization" ], "gold_answer": "Abnormal erythroid lineage cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04022", "question": "What is associated with Abnormal heart valve physiology?", "seeds": [ "Abnormal heart valve physiology" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04023", "question": "What is associated with Abnormal cortical bone morphology?", "seeds": [ "Abnormal cortical bone morphology" ], "gold_answer": "Abnormal bone structure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04024", "question": "What is associated with Abnormality of umbilical vein blood flow?", "seeds": [ "Abnormality of umbilical vein blood flow" ], "gold_answer": "Abnormal fetal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04025", "question": "What is associated with Abnormality of the phalanges of the 4th toe?", "seeds": [ "Abnormality of the phalanges of the 4th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04026", "question": "What is associated with Congenital factor VII deficiency?", "seeds": [ "Congenital factor VII deficiency" ], "gold_answer": "Prolonged bleeding following procedure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04027", "question": "What is associated with Osteolytic defects of the proximal phalanx of the 2nd toe?", "seeds": [ "Osteolytic defects of the proximal phalanx of the 2nd toe" ], "gold_answer": "Osteolysis involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04028", "question": "What is associated with Eosinophil nuclear hypersegmentation?", "seeds": [ "Eosinophil nuclear hypersegmentation" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04029", "question": "What is associated with Abnormal fetal heart outflow tract?", "seeds": [ "Abnormal fetal heart outflow tract" ], "gold_answer": "Abnormal fetal cardiovascular morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04030", "question": "What is associated with Pseudohypoparathyroidism?", "seeds": [ "Pseudohypoparathyroidism" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04031", "question": "What is associated with Decreased urinary metaepinephrine level?", "seeds": [ "Decreased urinary metaepinephrine level" ], "gold_answer": "Decreased urinary catecholamine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04032", "question": "What is associated with Prolonged exposure to axillary pressure?", "seeds": [ "Prolonged exposure to axillary pressure" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04033", "question": "What phenotype is associated with Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting?", "seeds": [ "Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting" ], "gold_answer": "Rigidity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04034", "question": "What is associated with Abnormality of the radioulnar joints?", "seeds": [ "Abnormality of the radioulnar joints" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04035", "question": "What is associated with Connective tissue nevi?", "seeds": [ "Connective tissue nevi" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04036", "question": "What is associated with Unusual fungal infection?", "seeds": [ "Unusual fungal infection" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04037", "question": "What is associated with Bifid distal phalanx of the thumb?", "seeds": [ "Bifid distal phalanx of the thumb" ], "gold_answer": "Duplication of the distal phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04038", "question": "What is associated with Positive bloodstream Cysticercosis antigen test?", "seeds": [ "Positive bloodstream Cysticercosis antigen test" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04039", "question": "What is associated with Deafness, autosomal dominant 72?", "seeds": [ "Deafness, autosomal dominant 72" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04040", "question": "What is associated with Broad long bones?", "seeds": [ "Broad long bones" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04041", "question": "What is associated with Generalized bone demineralization?", "seeds": [ "Generalized bone demineralization" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04042", "question": "What phenotype is associated with Tetrasomy 9p syndrome?", "seeds": [ "Tetrasomy 9p syndrome" ], "gold_answer": "Renal dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04043", "question": "What is associated with Adult-onset night blindness?", "seeds": [ "Adult-onset night blindness" ], "gold_answer": "Nyctalopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04044", "question": "What phenotype is associated with Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema?", "seeds": [ "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema" ], "gold_answer": "Conjunctival icterus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04045", "question": "What is associated with Elevated urinary 5-hydroxyhexanoic acid level?", "seeds": [ "Elevated urinary 5-hydroxyhexanoic acid level" ], "gold_answer": "Abnormal urine carboxylic acid level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04046", "question": "What is associated with Thyrotoxicosis with toxic multinodular goiter?", "seeds": [ "Thyrotoxicosis with toxic multinodular goiter" ], "gold_answer": "Hyperthyroidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04047", "question": "What is associated with Maladaptive fear-related cognitions?", "seeds": [ "Maladaptive fear-related cognitions" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04048", "question": "What is associated with Respiratory infections in early life?", "seeds": [ "Respiratory infections in early life" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04049", "question": "What is associated with Crusting erythematous dermatitis?", "seeds": [ "Crusting erythematous dermatitis" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04050", "question": "What is associated with Turricephaly?", "seeds": [ "Turricephaly" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04051", "question": "What is associated with Posttraumatic stress symptom?", "seeds": [ "Posttraumatic stress symptom" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04052", "question": "What is associated with Pitt-Hopkins like syndrome 1?", "seeds": [ "Pitt-Hopkins like syndrome 1" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04053", "question": "What is associated with Anti-Zikavirus-specific antibody positivity?", "seeds": [ "Anti-Zikavirus-specific antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04054", "question": "What is associated with Glomerular deposits?", "seeds": [ "Glomerular deposits" ], "gold_answer": "Abnormal renal cortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04055", "question": "What is associated with Nystagmus-induced head nodding?", "seeds": [ "Nystagmus-induced head nodding" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04056", "question": "What is associated with Pubic bone dysplasia?", "seeds": [ "Pubic bone dysplasia" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04057", "question": "What is associated with Hyperautofluorescent macular lesion?", "seeds": [ "Hyperautofluorescent macular lesion" ], "gold_answer": "Hyperautofluorescent retinal lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04058", "question": "What is associated with Psychotic episodes?", "seeds": [ "Psychotic episodes" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04059", "question": "What is associated with Increased susceptibility to fractures?", "seeds": [ "Increased susceptibility to fractures" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04060", "question": "What phenotype is associated with Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type?", "seeds": [ "Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type" ], "gold_answer": "Increased bone mineral density", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04061", "question": "What is associated with Decreased serum bile acid concentration?", "seeds": [ "Decreased serum bile acid concentration" ], "gold_answer": "Abnormal circulating monocarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04062", "question": "What is associated with Familial hypocalciuric hypercalcemia?", "seeds": [ "Familial hypocalciuric hypercalcemia" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04063", "question": "What is associated with Fetal scalp mass?", "seeds": [ "Fetal scalp mass" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04064", "question": "What is associated with Abnormal morphology of right ventricular trabeculae?", "seeds": [ "Abnormal morphology of right ventricular trabeculae" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04065", "question": "What is associated with Vitreoretinopathy with phalangeal epiphyseal dysplasia?", "seeds": [ "Vitreoretinopathy with phalangeal epiphyseal dysplasia" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04066", "question": "What is associated with Translamellar mucoid extracellular matrix accumulation?", "seeds": [ "Translamellar mucoid extracellular matrix accumulation" ], "gold_answer": "Mucoid extracellular matrix accumulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04067", "question": "What is associated with NYSTAGMUS, VOLUNTARY?", "seeds": [ "NYSTAGMUS, VOLUNTARY" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04068", "question": "What is associated with Spermatogenic failure 12?", "seeds": [ "Spermatogenic failure 12" ], "gold_answer": "Functional abnormality of male internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04069", "question": "What is associated with Tachylalia?", "seeds": [ "Tachylalia" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04070", "question": "What is associated with Increased circulating creatine kinase BB isoform?", "seeds": [ "Increased circulating creatine kinase BB isoform" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04071", "question": "What is associated with Friedreich ataxia?", "seeds": [ "Friedreich ataxia" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04072", "question": "What is associated with Abnormal activity of mitochondrial respiratory chain?", "seeds": [ "Abnormal activity of mitochondrial respiratory chain" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04073", "question": "What is associated with Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines?", "seeds": [ "Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines" ], "gold_answer": "Hyperpigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04074", "question": "What is associated with Papillary dermis eosinophilic hyaline material?", "seeds": [ "Papillary dermis eosinophilic hyaline material" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04075", "question": "What is associated with Progressive cerebellar ataxia?", "seeds": [ "Progressive cerebellar ataxia" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04076", "question": "What is associated with Pyriform sperm head?", "seeds": [ "Pyriform sperm head" ], "gold_answer": "Abnormal male germ cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04077", "question": "What is associated with Abnormality of tensor veli palatini muscle?", "seeds": [ "Abnormality of tensor veli palatini muscle" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04078", "question": "What is associated with Elevated circulating CCL3 concentration?", "seeds": [ "Elevated circulating CCL3 concentration" ], "gold_answer": "Abnormal circulating chemokine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04079", "question": "What is associated with Drug metabolism, altered, CES1-related?", "seeds": [ "Drug metabolism, altered, CES1-related" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04080", "question": "What is associated with Neonatal electro-clinical motor seizure with automatism?", "seeds": [ "Neonatal electro-clinical motor seizure with automatism" ], "gold_answer": "Neonatal seizure with electrographic correlate", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04081", "question": "What is associated with 3q29 microduplication syndrome?", "seeds": [ "3q29 microduplication syndrome" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04082", "question": "What phenotype is associated with Congenital disorder of glycosylation, type IIg?", "seeds": [ "Congenital disorder of glycosylation, type IIg" ], "gold_answer": "Aplasia/Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04083", "question": "What phenotype is associated with Pyloric stenosis, infantile hypertrophic 1?", "seeds": [ "Pyloric stenosis, infantile hypertrophic 1" ], "gold_answer": "Projectile vomiting", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04084", "question": "What is associated with Decreased Arden ratio of electrooculogram?", "seeds": [ "Decreased Arden ratio of electrooculogram" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04085", "question": "What is associated with Emery-Dreifuss muscular dystrophy 3, autosomal recessive?", "seeds": [ "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" ], "gold_answer": "Abnormal LDL cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04086", "question": "What is associated with Macroglossia?", "seeds": [ "Macroglossia" ], "gold_answer": "Abnormal tongue morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04087", "question": "What is associated with Hemangiopericytoma, malignant?", "seeds": [ "Hemangiopericytoma, malignant" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04088", "question": "What is associated with Photopsia?", "seeds": [ "Photopsia" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04089", "question": "What is associated with Fractured fused metatarsal bones 2-4?", "seeds": [ "Fractured fused metatarsal bones 2-4" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04090", "question": "What is associated with Abnormality of muscle of facial expression?", "seeds": [ "Abnormality of muscle of facial expression" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04091", "question": "What is associated with Triangular shaped distal phalanx of the 2nd finger?", "seeds": [ "Triangular shaped distal phalanx of the 2nd finger" ], "gold_answer": "Triangular shaped phalanges of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04092", "question": "What is associated with Premature arteriosclerosis?", "seeds": [ "Premature arteriosclerosis" ], "gold_answer": "Arteriosclerosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04093", "question": "What is associated with Ocular albinism?", "seeds": [ "Ocular albinism" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04094", "question": "What is associated with Primary hyperoxaluria type 3?", "seeds": [ "Primary hyperoxaluria type 3" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04095", "question": "What is associated with Deviation of the 3rd finger?", "seeds": [ "Deviation of the 3rd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04096", "question": "What is associated with Otofacial neurodevelopmental syndrome?", "seeds": [ "Otofacial neurodevelopmental syndrome" ], "gold_answer": "Abnormal nasal bridge morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04097", "question": "What is associated with Elevated circulating aspartylglucosamine concentration?", "seeds": [ "Elevated circulating aspartylglucosamine concentration" ], "gold_answer": "Abnormal circulating non-proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04098", "question": "What is associated with Decreased size of the clitoris?", "seeds": [ "Decreased size of the clitoris" ], "gold_answer": "Abnormal clitoris morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04099", "question": "What is associated with Dilation of Virchow-Robin spaces?", "seeds": [ "Dilation of Virchow-Robin spaces" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04100", "question": "What is associated with Plague?", "seeds": [ "Plague" ], "gold_answer": "Confusion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04101", "question": "What is associated with Renal cortical necrosis?", "seeds": [ "Renal cortical necrosis" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04102", "question": "What is associated with Coronary artery calcification?", "seeds": [ "Coronary artery calcification" ], "gold_answer": "Cardiovascular calcification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04103", "question": "What is associated with Muscular dystrophy, limb-girdle, type 2D?", "seeds": [ "Muscular dystrophy, limb-girdle, type 2D" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04104", "question": "What phenotype is associated with Sanjad-Sakati syndrome?", "seeds": [ "Sanjad-Sakati syndrome" ], "gold_answer": "Spinal canal stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04105", "question": "What is associated with Complete or near-complete absence of specific antibody response to tetanus vaccine?", "seeds": [ "Complete or near-complete absence of specific antibody response to tetanus vaccine" ], "gold_answer": "Decreased specific antibody response to protein vaccine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04106", "question": "What is associated with Tree-in-bud pattern?", "seeds": [ "Tree-in-bud pattern" ], "gold_answer": "Abnormal pulmonary thoracic imaging finding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04107", "question": "What is associated with Fibrosis of extraocular muscles, congenital, 1?", "seeds": [ "Fibrosis of extraocular muscles, congenital, 1" ], "gold_answer": "Craniofacial dystonia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04108", "question": "What is associated with Congenital unilateral hypoplasia of depressor anguli oris?", "seeds": [ "Congenital unilateral hypoplasia of depressor anguli oris" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04109", "question": "What is associated with Irregular olecranon?", "seeds": [ "Irregular olecranon" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04110", "question": "What is associated with Colorectal cancer, hereditary nonpolyposis, type 2?", "seeds": [ "Colorectal cancer, hereditary nonpolyposis, type 2" ], "gold_answer": "Neoplasm of the large intestine", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04111", "question": "What is associated with Amyloid goiter?", "seeds": [ "Amyloid goiter" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04112", "question": "What is associated with Caseous vernix-like desquamation?", "seeds": [ "Caseous vernix-like desquamation" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04113", "question": "What is associated with Alveolar ridge overgrowth?", "seeds": [ "Alveolar ridge overgrowth" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04114", "question": "What is associated with Reduced maximal inspiratory pressure?", "seeds": [ "Reduced maximal inspiratory pressure" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04115", "question": "What is associated with Porokeratosis 9, multiple types?", "seeds": [ "Porokeratosis 9, multiple types" ], "gold_answer": "Epidermal thickening", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04116", "question": "What is associated with Decreased urinary urate?", "seeds": [ "Decreased urinary urate" ], "gold_answer": "Abnormality of urinary uric acid level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04117", "question": "What is associated with Lipoma?", "seeds": [ "Lipoma" ], "gold_answer": "Abnormal adipose tissue morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04118", "question": "What is associated with Pancreatic cancer?", "seeds": [ "Pancreatic cancer" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04119", "question": "What is associated with Anti-GQ1b IgG antibody positivity?", "seeds": [ "Anti-GQ1b IgG antibody positivity" ], "gold_answer": "Anti-GQ1b antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04120", "question": "What is associated with Myotonia?", "seeds": [ "Myotonia" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04121", "question": "What is associated with Ehlers-Danlos syndrome, periodontal type, 2?", "seeds": [ "Ehlers-Danlos syndrome, periodontal type, 2" ], "gold_answer": "TRIP13", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_04122", "question": "What is associated with Pallor of dorsal columns of the spinal cord?", "seeds": [ "Pallor of dorsal columns of the spinal cord" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04123", "question": "What phenotype is associated with Mitochondrial complex I deficiency, nuclear type 5?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 5" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04124", "question": "What is associated with Decreased iduronate sulfatase level?", "seeds": [ "Decreased iduronate sulfatase level" ], "gold_answer": "Abnormal iduronate sulfatase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04125", "question": "What is associated with Porokeratosis?", "seeds": [ "Porokeratosis" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04126", "question": "What is associated with Hand monodactyly?", "seeds": [ "Hand monodactyly" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04127", "question": "What is associated with Scapuloperoneal syndrome, neurogenic, Kaeser type?", "seeds": [ "Scapuloperoneal syndrome, neurogenic, Kaeser type" ], "gold_answer": "Abnormal Z disk morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04128", "question": "What is associated with Abnormal diminished volition?", "seeds": [ "Abnormal diminished volition" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04129", "question": "What is associated with Curved middle phalanx of the 4th toe?", "seeds": [ "Curved middle phalanx of the 4th toe" ], "gold_answer": "Curved 4th toe phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04130", "question": "What is associated with Immunodeficiency 134 (Epstein-Barr virus-specific)?", "seeds": [ "Immunodeficiency 134 (Epstein-Barr virus-specific)" ], "gold_answer": "Abnormal CD4+ memory T cell proportion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04131", "question": "What is associated with Abnormal metacarpal ossification?", "seeds": [ "Abnormal metacarpal ossification" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04132", "question": "What phenotype is associated with Lateral meningocele syndrome?", "seeds": [ "Lateral meningocele syndrome" ], "gold_answer": "Intestinal atresia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04133", "question": "What is associated with Broad proximal phalanx of toe?", "seeds": [ "Broad proximal phalanx of toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04134", "question": "What is associated with Abnormal sweat electrolytes?", "seeds": [ "Abnormal sweat electrolytes" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04135", "question": "What is associated with Pancreatic alpha-cell hyperplasia?", "seeds": [ "Pancreatic alpha-cell hyperplasia" ], "gold_answer": "Pancreatic islet-cell hyperplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04136", "question": "What is associated with Spastic paraplegia-severe developmental delay-epilepsy syndrome?", "seeds": [ "Spastic paraplegia-severe developmental delay-epilepsy syndrome" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04137", "question": "What is associated with Blepharospasm?", "seeds": [ "Blepharospasm" ], "gold_answer": "Dystonia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04138", "question": "What is associated with Spastic/hyperactive bladder?", "seeds": [ "Spastic/hyperactive bladder" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04139", "question": "What is associated with Frontal venous angioma?", "seeds": [ "Frontal venous angioma" ], "gold_answer": "Cerebral venous angioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04140", "question": "What is associated with Positive bloodstream influenza nucleic test?", "seeds": [ "Positive bloodstream influenza nucleic test" ], "gold_answer": "Positive bloodstream nucleic acid pathogen test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04141", "question": "What phenotype is associated with 48,XXXY syndrome?", "seeds": [ "48,XXXY syndrome" ], "gold_answer": "Clinodactyly of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04142", "question": "What phenotype is associated with Diamond-Blackfan anemia 20?", "seeds": [ "Diamond-Blackfan anemia 20" ], "gold_answer": "Total anomalous pulmonary venous return", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04143", "question": "What is associated with Spastic paraplegia 18A, autosomal dominant?", "seeds": [ "Spastic paraplegia 18A, autosomal dominant" ], "gold_answer": "Abnormality of the ankle", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04144", "question": "What is associated with Hypogonadotropic hypogonadism 15 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 15 with or without anosmia" ], "gold_answer": "Abnormal knee morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04145", "question": "What is associated with Lymph-node hemophagocytosis?", "seeds": [ "Lymph-node hemophagocytosis" ], "gold_answer": "Hemophagocytosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04146", "question": "What is associated with Reduced alpha/beta synthesis ratio?", "seeds": [ "Reduced alpha/beta synthesis ratio" ], "gold_answer": "Imbalanced hemoglobin synthesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04147", "question": "What is associated with Cowchock syndrome?", "seeds": [ "Cowchock syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04148", "question": "What phenotype is associated with Thumb deformity and alopecia?", "seeds": [ "Thumb deformity and alopecia" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04149", "question": "What is associated with Breast myxoma?", "seeds": [ "Breast myxoma" ], "gold_answer": "Neoplasm of the breast", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04150", "question": "What phenotype is associated with Atelosteogenesis, type II?", "seeds": [ "Atelosteogenesis, type II" ], "gold_answer": "Dumbbell-shaped femur", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04151", "question": "What is associated with Positive CSF enterovirus nucleic acid test?", "seeds": [ "Positive CSF enterovirus nucleic acid test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04152", "question": "What is associated with Periodontitis, aggressive, 1?", "seeds": [ "Periodontitis, aggressive, 1" ], "gold_answer": "Abnormal skin morphology of the palm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04153", "question": "What is associated with Advanced eruption of teeth?", "seeds": [ "Advanced eruption of teeth" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04154", "question": "What is associated with Addictive spending behavior?", "seeds": [ "Addictive spending behavior" ], "gold_answer": "Addictive non-substance behaviors", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04155", "question": "What phenotype is associated with HNF1B-related autosomal dominant tubulointerstitial kidney disease?", "seeds": [ "HNF1B-related autosomal dominant tubulointerstitial kidney disease" ], "gold_answer": "Aplasia/Hypoplasia of the pancreas", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04156", "question": "What is associated with Abnormality of mucopolysaccharide metabolism?", "seeds": [ "Abnormality of mucopolysaccharide metabolism" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04157", "question": "What is associated with Scalp defects-postaxial polydactyly syndrome?", "seeds": [ "Scalp defects-postaxial polydactyly syndrome" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04158", "question": "What is associated with Rubber-like lump?", "seeds": [ "Rubber-like lump" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04159", "question": "What is associated with Calcaneonavicular fusion?", "seeds": [ "Calcaneonavicular fusion" ], "gold_answer": "Synostosis involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04160", "question": "What is associated with Supernumerary bones of the axial skeleton?", "seeds": [ "Supernumerary bones of the axial skeleton" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04161", "question": "What phenotype is associated with Extraoral halitosis due to MTO deficiency?", "seeds": [ "Extraoral halitosis due to MTO deficiency" ], "gold_answer": "Halitosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04162", "question": "What is associated with Primary biliary cholangitis?", "seeds": [ "Primary biliary cholangitis" ], "gold_answer": "Unusual fungal infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04163", "question": "What is associated with History of abdominal surgery?", "seeds": [ "History of abdominal surgery" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04164", "question": "What phenotype is associated with Deafness, neurosensory, autosomal recessive 2?", "seeds": [ "Deafness, neurosensory, autosomal recessive 2" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04165", "question": "What is associated with Acute zonal occult outer retinopathy?", "seeds": [ "Acute zonal occult outer retinopathy" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04166", "question": "What is associated with Epigastric pain?", "seeds": [ "Epigastric pain" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04167", "question": "What is associated with Abnormality of urine homeostasis?", "seeds": [ "Abnormality of urine homeostasis" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04168", "question": "What is associated with Glycogen storage disease type IXb?", "seeds": [ "Glycogen storage disease type IXb" ], "gold_answer": "Abnormal muscle tissue metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04169", "question": "What is associated with Hypoplastic optic chiasm?", "seeds": [ "Hypoplastic optic chiasm" ], "gold_answer": "Abnormal optic chiasm morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04170", "question": "What is associated with Pinhole visual acuity 1.3 LogMAR?", "seeds": [ "Pinhole visual acuity 1.3 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04171", "question": "What is associated with Sheldon-Hall syndrome?", "seeds": [ "Sheldon-Hall syndrome" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04172", "question": "What is associated with Eosinophilic infiltration of the esophagus?", "seeds": [ "Eosinophilic infiltration of the esophagus" ], "gold_answer": "Gastrointestinal inflammation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04173", "question": "What is associated with Anti-voltage-gated potassium channel antibody positivity?", "seeds": [ "Anti-voltage-gated potassium channel antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04174", "question": "What is associated with Mandibulofacial dysostosis?", "seeds": [ "Mandibulofacial dysostosis" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04175", "question": "What is associated with Hypoplasia of eyelid?", "seeds": [ "Hypoplasia of eyelid" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04176", "question": "What is associated with Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole?", "seeds": [ "Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04177", "question": "What is associated with Immune dysregulation?", "seeds": [ "Immune dysregulation" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04178", "question": "What phenotype is associated with Hyperphenylalaninemia, BH4-deficient, A?", "seeds": [ "Hyperphenylalaninemia, BH4-deficient, A" ], "gold_answer": "Progressive neurologic deterioration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04179", "question": "What is associated with Teeth, odd shapes oflobodontia, included?", "seeds": [ "Teeth, odd shapes oflobodontia, included" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04180", "question": "What is associated with Abnormal Langerhans cell morphology?", "seeds": [ "Abnormal Langerhans cell morphology" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04181", "question": "What is associated with Abnormality of thumb epiphysis?", "seeds": [ "Abnormality of thumb epiphysis" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04182", "question": "What is associated with Onychoheterotopia?", "seeds": [ "Onychoheterotopia" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04183", "question": "What is associated with Absent hallux epiphysis?", "seeds": [ "Absent hallux epiphysis" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04184", "question": "What is associated with Abnormal uvula morphology?", "seeds": [ "Abnormal uvula morphology" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04185", "question": "What is associated with Radiodense?", "seeds": [ "Radiodense" ], "gold_answer": "Radiographic modifier", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04186", "question": "What is associated with Right ventricular cardiomyopathy?", "seeds": [ "Right ventricular cardiomyopathy" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04187", "question": "What is associated with SURF1-related Charcot-Marie-Tooth disease type 4?", "seeds": [ "SURF1-related Charcot-Marie-Tooth disease type 4" ], "gold_answer": "SURF1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04188", "question": "What is associated with Chronic active Epstein-Barr virus infection?", "seeds": [ "Chronic active Epstein-Barr virus infection" ], "gold_answer": "Chronic infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04189", "question": "What is associated with Paroxysmal ventricular tachycardia?", "seeds": [ "Paroxysmal ventricular tachycardia" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04190", "question": "What phenotype is associated with EEM syndrome?", "seeds": [ "EEM syndrome" ], "gold_answer": "Widely spaced teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04191", "question": "What is associated with Hydrocephalus-obesity-hypogonadism syndrome?", "seeds": [ "Hydrocephalus-obesity-hypogonadism syndrome" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04192", "question": "What phenotype is associated with Mitochondrial complex IV deficiency, nuclear type 7?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 7" ], "gold_answer": "Myalgia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04193", "question": "What is associated with Increased caudate lactate level?", "seeds": [ "Increased caudate lactate level" ], "gold_answer": "Abnormal basal ganglia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04194", "question": "What is associated with Accessory scaphoid?", "seeds": [ "Accessory scaphoid" ], "gold_answer": "Abnormal wrist morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04195", "question": "What is associated with Congenital disorder of glycosylation, type IIw?", "seeds": [ "Congenital disorder of glycosylation, type IIw" ], "gold_answer": "Hernia of the abdominal wall", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04196", "question": "What is associated with Thoracoabdominal wall defect?", "seeds": [ "Thoracoabdominal wall defect" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04197", "question": "What is associated with Oligoclonal elevated circulating IgE concentration?", "seeds": [ "Oligoclonal elevated circulating IgE concentration" ], "gold_answer": "Increased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04198", "question": "What is associated with Sclerosis of the distal phalanx of the 4th toe?", "seeds": [ "Sclerosis of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04199", "question": "What is associated with Tessier number 30 facial cleft?", "seeds": [ "Tessier number 30 facial cleft" ], "gold_answer": "Tessier cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04200", "question": "What is associated with Anti-laminin antibody positivity?", "seeds": [ "Anti-laminin antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04201", "question": "What phenotype is associated with Spastic paraplegia-Paget disease of bone syndrome?", "seeds": [ "Spastic paraplegia-Paget disease of bone syndrome" ], "gold_answer": "Tongue fasciculations", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04202", "question": "What is associated with T-cell acute lymphoblastic leukemias?", "seeds": [ "T-cell acute lymphoblastic leukemias" ], "gold_answer": "Acute lymphoblastic leukemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04203", "question": "What is associated with Renal tubular dysfunction?", "seeds": [ "Renal tubular dysfunction" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04204", "question": "What is associated with Abnormal mandible morphology?", "seeds": [ "Abnormal mandible morphology" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04205", "question": "What is associated with Abnormal coronary artery course?", "seeds": [ "Abnormal coronary artery course" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04206", "question": "What is associated with Tibial deviation of the 2nd toe?", "seeds": [ "Tibial deviation of the 2nd toe" ], "gold_answer": "Deviation of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04207", "question": "What is associated with Pseudohypoaldosteronism, type IIE?", "seeds": [ "Pseudohypoaldosteronism, type IIE" ], "gold_answer": "Increased blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04208", "question": "What phenotype is associated with Early-onset autosomal dominant Alzheimer disease?", "seeds": [ "Early-onset autosomal dominant Alzheimer disease" ], "gold_answer": "Disinhibition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04209", "question": "What is associated with Thoracic hypoplasia?", "seeds": [ "Thoracic hypoplasia" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04210", "question": "What is associated with History of adrenalectomy?", "seeds": [ "History of adrenalectomy" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04211", "question": "What is associated with Dopamine antagonist exposure?", "seeds": [ "Dopamine antagonist exposure" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04212", "question": "What is associated with Short pointed phalanges?", "seeds": [ "Short pointed phalanges" ], "gold_answer": "Short phalanx of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04213", "question": "What phenotype is associated with Pyoderma gangrenosum?", "seeds": [ "Pyoderma gangrenosum" ], "gold_answer": "Rheumatoid factor positive", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04214", "question": "What is associated with Loeys-Dietz syndrome 2?", "seeds": [ "Loeys-Dietz syndrome 2" ], "gold_answer": "Abnormal midface morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04215", "question": "What phenotype is associated with Drug reaction with eosinophilia and systemic symptoms?", "seeds": [ "Drug reaction with eosinophilia and systemic symptoms" ], "gold_answer": "Erythroderma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04216", "question": "What is associated with Abnormality of the vestibular window?", "seeds": [ "Abnormality of the vestibular window" ], "gold_answer": "Abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04217", "question": "What is associated with Bronchoconstriction?", "seeds": [ "Bronchoconstriction" ], "gold_answer": "Abnormal bronchus physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04218", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2HH?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2HH" ], "gold_answer": "Hypoesthesia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04219", "question": "What is associated with Focal aware cognitive seizure with dysgraphia/agraphia?", "seeds": [ "Focal aware cognitive seizure with dysgraphia/agraphia" ], "gold_answer": "Focal aware non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04220", "question": "What is associated with Fractured ankle?", "seeds": [ "Fractured ankle" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04221", "question": "What phenotype is associated with Pyruvate dehydrogenase E1-beta deficiency?", "seeds": [ "Pyruvate dehydrogenase E1-beta deficiency" ], "gold_answer": "Impaired smooth pursuit", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04222", "question": "What is associated with Streak ovary?", "seeds": [ "Streak ovary" ], "gold_answer": "Abnormal ovarian morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04223", "question": "What is associated with Elevated circulating medium-chain acylcarnitine concentration?", "seeds": [ "Elevated circulating medium-chain acylcarnitine concentration" ], "gold_answer": "Abnormal circulating fatty-acid anion concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04224", "question": "What is associated with Focal-onset epileptic spasm?", "seeds": [ "Focal-onset epileptic spasm" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04225", "question": "What phenotype is associated with Peroxisome biogenesis disorder 3B?", "seeds": [ "Peroxisome biogenesis disorder 3B" ], "gold_answer": "Osteoporosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04226", "question": "What is associated with Hemolytic anemia with thermal sensitivity of red cells?", "seeds": [ "Hemolytic anemia with thermal sensitivity of red cells" ], "gold_answer": "Anemia due to reduced life span of red cells", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04227", "question": "What is associated with Handgrip myotonia?", "seeds": [ "Handgrip myotonia" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04228", "question": "What is associated with Broad diaphyses of the upper limbs?", "seeds": [ "Broad diaphyses of the upper limbs" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04229", "question": "What is associated with Hyperaldosteronism, familial, type III?", "seeds": [ "Hyperaldosteronism, familial, type III" ], "gold_answer": "Abnormal circulating renin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04230", "question": "What is associated with Infantile liver failure syndrome 1?", "seeds": [ "Infantile liver failure syndrome 1" ], "gold_answer": "Abnormal shape of the frontal region", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04231", "question": "What is associated with Abnormal retinal morphology?", "seeds": [ "Abnormal retinal morphology" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04232", "question": "What is associated with Iron overload in africa?", "seeds": [ "Iron overload in africa" ], "gold_answer": "Abnormality of iron homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04233", "question": "What is associated with Toenail dysplasia?", "seeds": [ "Toenail dysplasia" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04234", "question": "What is associated with Reduced tissue acetyl-CoA carboxylase activity?", "seeds": [ "Reduced tissue acetyl-CoA carboxylase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04235", "question": "What is associated with Statin exposure?", "seeds": [ "Statin exposure" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04236", "question": "What is associated with Lymph node necrosis?", "seeds": [ "Lymph node necrosis" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04237", "question": "What is associated with Fragmented elastic fibers in the dermis?", "seeds": [ "Fragmented elastic fibers in the dermis" ], "gold_answer": "Abnormal cutaneous elastic fiber morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04238", "question": "What is associated with Progressive loss of facial adipose tissue?", "seeds": [ "Progressive loss of facial adipose tissue" ], "gold_answer": "Loss of facial adipose tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04239", "question": "What is associated with Gonadal neoplasm?", "seeds": [ "Gonadal neoplasm" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04240", "question": "What is associated with Multiple epiphyseal dysplasia type 4?", "seeds": [ "Multiple epiphyseal dysplasia type 4" ], "gold_answer": "Aplasia/hypoplasia involving bones of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04241", "question": "What is associated with Long phalanx of finger?", "seeds": [ "Long phalanx of finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04242", "question": "What is associated with Bile acid malabsorption, primary?", "seeds": [ "Bile acid malabsorption, primary" ], "gold_answer": "Abnormal digestive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04243", "question": "What is associated with Superficial thrombophlebitis?", "seeds": [ "Superficial thrombophlebitis" ], "gold_answer": "Thrombophlebitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04244", "question": "What is associated with Aneurysmal bone cyst?", "seeds": [ "Aneurysmal bone cyst" ], "gold_answer": "Bone cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04245", "question": "What is associated with Hyperapobetalipoproteinemia?", "seeds": [ "Hyperapobetalipoproteinemia" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04246", "question": "What is associated with Yellow subcutaneous tissue covered by thin, scaly skin?", "seeds": [ "Yellow subcutaneous tissue covered by thin, scaly skin" ], "gold_answer": "Abnormality of subcutaneous fat tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04247", "question": "What is associated with Abnormal monocyte morphology?", "seeds": [ "Abnormal monocyte morphology" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04248", "question": "What is associated with Hypotrichosis 14?", "seeds": [ "Hypotrichosis 14" ], "gold_answer": "Abnormality of the axillary hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04249", "question": "What is associated with Erythrocytosis 7?", "seeds": [ "Erythrocytosis 7" ], "gold_answer": "Abnormal hemoglobin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04250", "question": "What is associated with CADINS disease?", "seeds": [ "CADINS disease" ], "gold_answer": "CARD11", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_04251", "question": "What is associated with Sweeney-Cox syndrome?", "seeds": [ "Sweeney-Cox syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the external ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04252", "question": "What is associated with Abnormal fucosylation of O-linked protein glycosylation?", "seeds": [ "Abnormal fucosylation of O-linked protein glycosylation" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04253", "question": "What is associated with Basilar artery calcification?", "seeds": [ "Basilar artery calcification" ], "gold_answer": "Intracranial arterial calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04254", "question": "What is associated with Spinocerebellar ataxia 26?", "seeds": [ "Spinocerebellar ataxia 26" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04255", "question": "What is associated with Progressive myoclonic epilepsy type 1?", "seeds": [ "Progressive myoclonic epilepsy type 1" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04256", "question": "What is associated with Albinism, ocular, with late-onset sensorineural deafness?", "seeds": [ "Albinism, ocular, with late-onset sensorineural deafness" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04257", "question": "What is associated with Multiple glomerular cysts?", "seeds": [ "Multiple glomerular cysts" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04258", "question": "What is associated with Myopathy, reducing body, X-linked, childhood-onset?", "seeds": [ "Myopathy, reducing body, X-linked, childhood-onset" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04259", "question": "What is associated with Multiple meningiomas?", "seeds": [ "Multiple meningiomas" ], "gold_answer": "Heteronymous hemianopia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04260", "question": "What is associated with Spina bifida occulta at S1?", "seeds": [ "Spina bifida occulta at S1" ], "gold_answer": "Spinal dysraphism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04261", "question": "What is associated with Ivory epiphyses of the toes?", "seeds": [ "Ivory epiphyses of the toes" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04262", "question": "What is associated with Ataxia with myoclonic epilepsy and presenile dementia?", "seeds": [ "Ataxia with myoclonic epilepsy and presenile dementia" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04263", "question": "What is associated with Glomerular hyaline pseudothrombus?", "seeds": [ "Glomerular hyaline pseudothrombus" ], "gold_answer": "Abnormal glomerular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04264", "question": "What is associated with Macroorchidism, postpubertal?", "seeds": [ "Macroorchidism, postpubertal" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04265", "question": "What phenotype is associated with Exudative vitreoretinopathy 6?", "seeds": [ "Exudative vitreoretinopathy 6" ], "gold_answer": "Esodeviation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04266", "question": "What is associated with Recurrent plantar mycosis?", "seeds": [ "Recurrent plantar mycosis" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04267", "question": "What phenotype is associated with Paroxysmal cold hemoglobinuria?", "seeds": [ "Paroxysmal cold hemoglobinuria" ], "gold_answer": "Headache", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04268", "question": "What is associated with Short-limb skeletal dysplasia with severe combined immunodeficiency?", "seeds": [ "Short-limb skeletal dysplasia with severe combined immunodeficiency" ], "gold_answer": "Immunodeficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04269", "question": "What is associated with Shoulder abduction contracture?", "seeds": [ "Shoulder abduction contracture" ], "gold_answer": "Abnormal shoulder morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04270", "question": "What is associated with Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1?", "seeds": [ "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04271", "question": "What phenotype is associated with Nystagmus 2, congenital, autosomal dominant?", "seeds": [ "Nystagmus 2, congenital, autosomal dominant" ], "gold_answer": "Mildly reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04272", "question": "What is associated with Irregularly shaped lymph node germinal centers?", "seeds": [ "Irregularly shaped lymph node germinal centers" ], "gold_answer": "Abnormal lymph-node tissue architecture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04273", "question": "What is associated with Pseudoepiphyses of the middle phalanges of the hand?", "seeds": [ "Pseudoepiphyses of the middle phalanges of the hand" ], "gold_answer": "Pseudoepiphyses", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04274", "question": "What is associated with Osteolytic defects of the distal phalanx of the 5th finger?", "seeds": [ "Osteolytic defects of the distal phalanx of the 5th finger" ], "gold_answer": "Osteolytic defects of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04275", "question": "What is associated with Epileptic encephalopathy, early infantile, 40?", "seeds": [ "Epileptic encephalopathy, early infantile, 40" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04276", "question": "What phenotype is associated with Renal-hepatic-pancreatic dysplasia?", "seeds": [ "Renal-hepatic-pancreatic dysplasia" ], "gold_answer": "Pancreatic fibrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04277", "question": "What is associated with Aphakia?", "seeds": [ "Aphakia" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04278", "question": "What is associated with Osteolysis?", "seeds": [ "Osteolysis" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04279", "question": "What is associated with Hypotrichosis 5?", "seeds": [ "Hypotrichosis 5" ], "gold_answer": "Abnormal eyelash morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04280", "question": "What phenotype is associated with Coffin-Siris syndrome 11?", "seeds": [ "Coffin-Siris syndrome 11" ], "gold_answer": "Gastroesophageal reflux", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04281", "question": "What is associated with Polycystic kidney disease 6 with or without polycystic liver disease?", "seeds": [ "Polycystic kidney disease 6 with or without polycystic liver disease" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04282", "question": "What is associated with Hyperplasia of the femoral trochanters?", "seeds": [ "Hyperplasia of the femoral trochanters" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04283", "question": "What phenotype is associated with Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young?", "seeds": [ "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04284", "question": "What is associated with Ovarioleukodystrophy?", "seeds": [ "Ovarioleukodystrophy" ], "gold_answer": "EIF2B2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04285", "question": "What is associated with Hyperphalangy of the 4th finger?", "seeds": [ "Hyperphalangy of the 4th finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04286", "question": "What is associated with Tubular basement membrane disintegration?", "seeds": [ "Tubular basement membrane disintegration" ], "gold_answer": "Abnormal tubular basement membrane morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04287", "question": "What is associated with Anemia, sideroblastic, X-linked?", "seeds": [ "Anemia, sideroblastic, X-linked" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04288", "question": "What is associated with Elevated urine malic acid level?", "seeds": [ "Elevated urine malic acid level" ], "gold_answer": "Dicarboxylic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04289", "question": "What is associated with Nutrition history?", "seeds": [ "Nutrition history" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04290", "question": "What is associated with Lenticular astigmatism?", "seeds": [ "Lenticular astigmatism" ], "gold_answer": "Astigmatism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04291", "question": "What is associated with Beta 2-microglobulinuria?", "seeds": [ "Beta 2-microglobulinuria" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04292", "question": "What is associated with Congenital pulmonary airway malformation?", "seeds": [ "Congenital pulmonary airway malformation" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04293", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 113?", "seeds": [ "Intellectual developmental disorder, X-linked 113" ], "gold_answer": "Mild intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04294", "question": "What is associated with Elevated CSF 14-3-3 protein concentration?", "seeds": [ "Elevated CSF 14-3-3 protein concentration" ], "gold_answer": "Abnormal CSF protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04295", "question": "What is associated with Pain at the posterior aspect of the knee?", "seeds": [ "Pain at the posterior aspect of the knee" ], "gold_answer": "Limb pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04296", "question": "What is associated with Irregular epiphysis of the 1st metatarsal?", "seeds": [ "Irregular epiphysis of the 1st metatarsal" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04297", "question": "What is associated with Retinitis pigmentosa 83?", "seeds": [ "Retinitis pigmentosa 83" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04298", "question": "What is associated with Symptomatic form of Coffin-Lowry syndrome in female carriers?", "seeds": [ "Symptomatic form of Coffin-Lowry syndrome in female carriers" ], "gold_answer": "Conical incisor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04299", "question": "What phenotype is associated with Achromatopsia 7?", "seeds": [ "Achromatopsia 7" ], "gold_answer": "Hypoplasia of the fovea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04300", "question": "What is associated with Gallbladder disease 1?", "seeds": [ "Gallbladder disease 1" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04301", "question": "What is associated with Episodic abdominal pain?", "seeds": [ "Episodic abdominal pain" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04302", "question": "What is associated with Hypsarrhythmia?", "seeds": [ "Hypsarrhythmia" ], "gold_answer": "Interictal EEG abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04303", "question": "What is associated with Late-onset spinocerebellar degeneration?", "seeds": [ "Late-onset spinocerebellar degeneration" ], "gold_answer": "Spinocerebellar tract degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04304", "question": "What is associated with Elevated CSF hydroxyproline concentration?", "seeds": [ "Elevated CSF hydroxyproline concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04305", "question": "What is associated with Meat allergen allergy?", "seeds": [ "Meat allergen allergy" ], "gold_answer": "Allergy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04306", "question": "What is associated with Paroxysmal choreoathetosis?", "seeds": [ "Paroxysmal choreoathetosis" ], "gold_answer": "Choreoathetosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04307", "question": "What is associated with Reduced lymphocyte surface expression of CD43?", "seeds": [ "Reduced lymphocyte surface expression of CD43" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04308", "question": "What is associated with Intercrural pterygium?", "seeds": [ "Intercrural pterygium" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04309", "question": "What is associated with Delayed speech and language development?", "seeds": [ "Delayed speech and language development" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04310", "question": "What is associated with Abnormality of the falx cerebri?", "seeds": [ "Abnormality of the falx cerebri" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04311", "question": "What is associated with Leprosy?", "seeds": [ "Leprosy" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04312", "question": "What is associated with Premature closure of fontanelles?", "seeds": [ "Premature closure of fontanelles" ], "gold_answer": "Abnormal cranial suture/fontanelle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04313", "question": "What is associated with Diet-resistant subcutaneous adipose tissue below waist?", "seeds": [ "Diet-resistant subcutaneous adipose tissue below waist" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04314", "question": "What is associated with Abnormal greater palatine artery morphology?", "seeds": [ "Abnormal greater palatine artery morphology" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04315", "question": "What is associated with Sarcosinemia?", "seeds": [ "Sarcosinemia" ], "gold_answer": "Distal lower limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04316", "question": "What is associated with Decreased iduronate sulfatase level?", "seeds": [ "Decreased iduronate sulfatase level" ], "gold_answer": "Abnormal iduronate sulfatase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04317", "question": "What phenotype is associated with Triploidy syndrome?", "seeds": [ "Triploidy syndrome" ], "gold_answer": "Tetralogy of Fallot", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04318", "question": "What is associated with Elevated CSF dihydrothymine concentration?", "seeds": [ "Elevated CSF dihydrothymine concentration" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04319", "question": "What is associated with Hyperkalemic metabolic acidosis?", "seeds": [ "Hyperkalemic metabolic acidosis" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04320", "question": "What is associated with Retinal hole?", "seeds": [ "Retinal hole" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04321", "question": "What is associated with Limited hip extension?", "seeds": [ "Limited hip extension" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04322", "question": "What phenotype is associated with 48,XYYY syndrome?", "seeds": [ "48,XYYY syndrome" ], "gold_answer": "Thick lower lip vermilion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04323", "question": "What phenotype is associated with Lynch syndrome I?", "seeds": [ "Lynch syndrome I" ], "gold_answer": "Colon cancer", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04324", "question": "What is associated with Right ventricular regional wall motion abnormality?", "seeds": [ "Right ventricular regional wall motion abnormality" ], "gold_answer": "Abnormal right ventricular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04325", "question": "What is associated with Aplasia of the maxilla?", "seeds": [ "Aplasia of the maxilla" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04326", "question": "What is associated with Posterior staphyloma?", "seeds": [ "Posterior staphyloma" ], "gold_answer": "Abnormal sclera morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04327", "question": "What is associated with Cutaneous syndactyly of toes?", "seeds": [ "Cutaneous syndactyly of toes" ], "gold_answer": "Syndactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04328", "question": "What is associated with Peho-Like syndrome?", "seeds": [ "Peho-Like syndrome" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04329", "question": "What is associated with IgG4-related aortitis?", "seeds": [ "IgG4-related aortitis" ], "gold_answer": "Increased circulating IgG subclass", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04330", "question": "What is associated with Paranoia?", "seeds": [ "Paranoia" ], "gold_answer": "Disorder of thought content", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04331", "question": "What is associated with Glomerular pseudocrescent?", "seeds": [ "Glomerular pseudocrescent" ], "gold_answer": "Abnormal Bowman capsule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04332", "question": "What is associated with Abnormal sputum?", "seeds": [ "Abnormal sputum" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04333", "question": "What is associated with Central cyanosis?", "seeds": [ "Central cyanosis" ], "gold_answer": "Dermatological manifestations of systemic disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04334", "question": "What is associated with Cervical vertebral dysplasia?", "seeds": [ "Cervical vertebral dysplasia" ], "gold_answer": "Aplasia/Hypoplasia of the cervical spine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04335", "question": "What phenotype is associated with Metaphyseal chondrodysplasia, Spahr type?", "seeds": [ "Metaphyseal chondrodysplasia, Spahr type" ], "gold_answer": "Genu valgum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04336", "question": "What is associated with Sparse lower eyelashes?", "seeds": [ "Sparse lower eyelashes" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04337", "question": "What is associated with Increased T cell apoptosis?", "seeds": [ "Increased T cell apoptosis" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04338", "question": "What is associated with Rare X-linked non-syndromic sensorineural deafness type DFN?", "seeds": [ "Rare X-linked non-syndromic sensorineural deafness type DFN" ], "gold_answer": "SMPX", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04339", "question": "What is associated with Reduced lymphocyte surface expression of CD43?", "seeds": [ "Reduced lymphocyte surface expression of CD43" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04340", "question": "What is associated with Stippling of the epiphysis of the distal phalanx of the 2nd finger?", "seeds": [ "Stippling of the epiphysis of the distal phalanx of the 2nd finger" ], "gold_answer": "Stippling of the epiphyses of the distal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04341", "question": "What is associated with Abnormal CSF leucine concentration?", "seeds": [ "Abnormal CSF leucine concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04342", "question": "What is associated with Decreased circulating aspartic acid concentration?", "seeds": [ "Decreased circulating aspartic acid concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04343", "question": "What is associated with Extracranial carotid artery aneurysm?", "seeds": [ "Extracranial carotid artery aneurysm" ], "gold_answer": "Abnormal arterial physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04344", "question": "What is associated with Squamous metaplasia?", "seeds": [ "Squamous metaplasia" ], "gold_answer": "Histopathological abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04345", "question": "What is associated with Capillary-lymphatic-venous malformation with segmental distribution?", "seeds": [ "Capillary-lymphatic-venous malformation with segmental distribution" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04346", "question": "What is associated with Dysplastic sacrum?", "seeds": [ "Dysplastic sacrum" ], "gold_answer": "Abnormal sacrum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04347", "question": "What is associated with Partial duplication of the phalanx of hand?", "seeds": [ "Partial duplication of the phalanx of hand" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04348", "question": "What is associated with Deafness, sensorineural, and male infertility?", "seeds": [ "Deafness, sensorineural, and male infertility" ], "gold_answer": "Abnormal male reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04349", "question": "What is associated with Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease?", "seeds": [ "Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" ], "gold_answer": "TNNI3K", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04350", "question": "What is associated with Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome?", "seeds": [ "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04351", "question": "What is associated with Increased red blood cell count?", "seeds": [ "Increased red blood cell count" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04352", "question": "What is associated with Spermatogenic failure 37?", "seeds": [ "Spermatogenic failure 37" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04353", "question": "What phenotype is associated with Autosomal dominant progressive external ophthalmoplegia?", "seeds": [ "Autosomal dominant progressive external ophthalmoplegia" ], "gold_answer": "Dysphagia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04354", "question": "What phenotype is associated with Microphthalmia, syndromic 5?", "seeds": [ "Microphthalmia, syndromic 5" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04355", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 31?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 31" ], "gold_answer": "Supraventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04356", "question": "What is associated with Familial hyperthyroidism due to mutations in TSH receptor?", "seeds": [ "Familial hyperthyroidism due to mutations in TSH receptor" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04357", "question": "What is associated with Vertical nystagmus?", "seeds": [ "Vertical nystagmus" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04358", "question": "What is associated with Ocular cystinosis?", "seeds": [ "Ocular cystinosis" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04359", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the 4th toe?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the 4th toe" ], "gold_answer": "Sclerosis of 4th toe phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04360", "question": "What phenotype is associated with Bazex syndrome?", "seeds": [ "Bazex syndrome" ], "gold_answer": "Palmoplantar keratoderma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04361", "question": "What is associated with Abnormal greater sciatic notch morphology?", "seeds": [ "Abnormal greater sciatic notch morphology" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04362", "question": "What is associated with Platelet-Activating factor acetylhydrolase deficiency?", "seeds": [ "Platelet-Activating factor acetylhydrolase deficiency" ], "gold_answer": "Abnormal level of platelet-activating factor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04363", "question": "What is associated with 6 metacarpals?", "seeds": [ "6 metacarpals" ], "gold_answer": "Supernumerary metacarpal bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04364", "question": "What is associated with Spondylometaepiphyseal dysplasia, short Limb-Hand type?", "seeds": [ "Spondylometaepiphyseal dysplasia, short Limb-Hand type" ], "gold_answer": "Abnormal fontanelle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04365", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 53?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 53" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04366", "question": "What is associated with Neonatal bilateral asymmetric myoclonic seizure?", "seeds": [ "Neonatal bilateral asymmetric myoclonic seizure" ], "gold_answer": "Neonatal electro-clinical motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04367", "question": "What is associated with Abnormal mean corpuscular hemoglobin concentration?", "seeds": [ "Abnormal mean corpuscular hemoglobin concentration" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04368", "question": "What phenotype is associated with Joubert syndrome 30?", "seeds": [ "Joubert syndrome 30" ], "gold_answer": "Superior cerebellar dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04369", "question": "What is associated with Spur at inferior pole of patella?", "seeds": [ "Spur at inferior pole of patella" ], "gold_answer": "Abnormality of the knee", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04370", "question": "What is associated with Perihepatic enhancement?", "seeds": [ "Perihepatic enhancement" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04371", "question": "What is associated with Abnormal length of corpus callosum?", "seeds": [ "Abnormal length of corpus callosum" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04372", "question": "What is associated with Excessive sleep?", "seeds": [ "Excessive sleep" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04373", "question": "What is associated with Abnormal effector memory CD8+ T cell proportion?", "seeds": [ "Abnormal effector memory CD8+ T cell proportion" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04374", "question": "What is associated with Multinucleated giant chondrocytes in epiphyseal cartilage?", "seeds": [ "Multinucleated giant chondrocytes in epiphyseal cartilage" ], "gold_answer": "Abnormal chondrocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04375", "question": "What is associated with Pelvis-Shoulder dysplasia?", "seeds": [ "Pelvis-Shoulder dysplasia" ], "gold_answer": "Deviation of finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04376", "question": "What is associated with Triangular shaped phalanges of the 5th finger?", "seeds": [ "Triangular shaped phalanges of the 5th finger" ], "gold_answer": "Abnormal 5th finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04377", "question": "What is associated with Recurrent meningitis?", "seeds": [ "Recurrent meningitis" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04378", "question": "What is associated with Morning glory anomaly?", "seeds": [ "Morning glory anomaly" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04379", "question": "What is associated with Dystonia 2, torsion, autosomal recessive?", "seeds": [ "Dystonia 2, torsion, autosomal recessive" ], "gold_answer": "Craniofacial dystonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04380", "question": "What is associated with Epilepsy, progressive myoclonic, 6?", "seeds": [ "Epilepsy, progressive myoclonic, 6" ], "gold_answer": "Abnormal circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04381", "question": "What is associated with Vaguely nodular lymph-node architecture?", "seeds": [ "Vaguely nodular lymph-node architecture" ], "gold_answer": "Abnormal lymph-node tissue architecture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04382", "question": "What is associated with Reduced hepatic beta-ureidopropionase activity?", "seeds": [ "Reduced hepatic beta-ureidopropionase activity" ], "gold_answer": "Abnormal liver enzyme activity or concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04383", "question": "What is associated with Abnormal circulating corticosterone level?", "seeds": [ "Abnormal circulating corticosterone level" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04384", "question": "What phenotype is associated with Aicardi-Goutieres syndrome 3?", "seeds": [ "Aicardi-Goutieres syndrome 3" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04385", "question": "What is associated with High-pitched cry?", "seeds": [ "High-pitched cry" ], "gold_answer": "Abnormality of the voice", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04386", "question": "What is associated with Renal interstitial IgG4+ plasma cell infiltration?", "seeds": [ "Renal interstitial IgG4+ plasma cell infiltration" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04387", "question": "What is associated with Intellectual developmental disorder and retinitis pigmentosa?", "seeds": [ "Intellectual developmental disorder and retinitis pigmentosa" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04388", "question": "What is associated with Raynaud phenomenon?", "seeds": [ "Raynaud phenomenon" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04389", "question": "What is associated with Anti-proteinase 3 antibody positivity?", "seeds": [ "Anti-proteinase 3 antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04390", "question": "What is associated with Bullet-shaped middle phalanx of the 5th finger?", "seeds": [ "Bullet-shaped middle phalanx of the 5th finger" ], "gold_answer": "Abnormality of the middle phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04391", "question": "What is associated with Congenital megacalycosis?", "seeds": [ "Congenital megacalycosis" ], "gold_answer": "Abnormal ureter physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04392", "question": "What is associated with Compensatory scoliosis?", "seeds": [ "Compensatory scoliosis" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04393", "question": "What is associated with Cyst of the ductus choledochus?", "seeds": [ "Cyst of the ductus choledochus" ], "gold_answer": "Abnormal ductus choledochus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04394", "question": "What is associated with Triggered by excitement?", "seeds": [ "Triggered by excitement" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04395", "question": "What phenotype is associated with Mesoaxial hexadactyly and cardiac malformation?", "seeds": [ "Mesoaxial hexadactyly and cardiac malformation" ], "gold_answer": "Mild intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04396", "question": "What is associated with Abnormal small intestinal mucosa morphology?", "seeds": [ "Abnormal small intestinal mucosa morphology" ], "gold_answer": "Abnormal small intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04397", "question": "What is associated with Alveolar capillary dysplasia?", "seeds": [ "Alveolar capillary dysplasia" ], "gold_answer": "Abnormal pulmonary alveolar system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04398", "question": "What is associated with Elevated urinary homovanillic acid?", "seeds": [ "Elevated urinary homovanillic acid" ], "gold_answer": "Organic aciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04399", "question": "What is associated with Neutral lipid storage disease with ichthyosis?", "seeds": [ "Neutral lipid storage disease with ichthyosis" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04400", "question": "What is associated with Pressure-induced localized lipoatrophy?", "seeds": [ "Pressure-induced localized lipoatrophy" ], "gold_answer": "Abnormal adipose tissue morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04401", "question": "What is associated with Ventricular tachycardia, familial?", "seeds": [ "Ventricular tachycardia, familial" ], "gold_answer": "Bundle branch block", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04402", "question": "What phenotype is associated with Parkinson disease 15, autosomal recessive early-onset?", "seeds": [ "Parkinson disease 15, autosomal recessive early-onset" ], "gold_answer": "Babinski sign", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04403", "question": "What is associated with Abnormal sialylation of O-linked protein glycosylation?", "seeds": [ "Abnormal sialylation of O-linked protein glycosylation" ], "gold_answer": "Abnormal glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04404", "question": "What phenotype is associated with Pili torti?", "seeds": [ "Pili torti" ], "gold_answer": "Abnormality of hair texture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04405", "question": "What is associated with Myopia 27?", "seeds": [ "Myopia 27" ], "gold_answer": "Abnormality of refraction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04406", "question": "What is associated with Postinfectious vasculitis?", "seeds": [ "Postinfectious vasculitis" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04407", "question": "What phenotype is associated with Spinal muscular atrophy, distal, autosomal recessive, 1?", "seeds": [ "Spinal muscular atrophy, distal, autosomal recessive, 1" ], "gold_answer": "Ventilator dependence with inability to wean", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04408", "question": "What is associated with Ciliary dyskinesia, primary, 45?", "seeds": [ "Ciliary dyskinesia, primary, 45" ], "gold_answer": "Abnormal ciliary motility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04409", "question": "What is associated with 6-pyruvoyl-tetrahydropterin synthase deficiency?", "seeds": [ "6-pyruvoyl-tetrahydropterin synthase deficiency" ], "gold_answer": "Reduced consciousness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04410", "question": "What is associated with Gordon reflex?", "seeds": [ "Gordon reflex" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04411", "question": "What is associated with Colonic diverticula?", "seeds": [ "Colonic diverticula" ], "gold_answer": "Abnormal large intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04412", "question": "What is associated with Glycogen storage disease XV?", "seeds": [ "Glycogen storage disease XV" ], "gold_answer": "Abnormality of the shoulder girdle musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04413", "question": "What is associated with 1-minute APGAR score of 0?", "seeds": [ "1-minute APGAR score of 0" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04414", "question": "What phenotype is associated with Diabetes mellitus, transient neonatal, 1?", "seeds": [ "Diabetes mellitus, transient neonatal, 1" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04415", "question": "What is associated with Hair shaft lesion?", "seeds": [ "Hair shaft lesion" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04416", "question": "What is associated with Echogenic fetal colon?", "seeds": [ "Echogenic fetal colon" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04417", "question": "What is associated with Triggered by excitement?", "seeds": [ "Triggered by excitement" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04418", "question": "What is associated with COG1-CDG?", "seeds": [ "COG1-CDG" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04419", "question": "What is associated with Olfactory hallucination?", "seeds": [ "Olfactory hallucination" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04420", "question": "What is associated with Broad middle phalanx of the 4th finger?", "seeds": [ "Broad middle phalanx of the 4th finger" ], "gold_answer": "Broad phalanx", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04421", "question": "What is associated with Benign paroxysmal torticollis of infancy?", "seeds": [ "Benign paroxysmal torticollis of infancy" ], "gold_answer": "Headache", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04422", "question": "What is associated with Tryptophanuria?", "seeds": [ "Tryptophanuria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04423", "question": "What phenotype is associated with Dysmorphism-cleft palate-loose skin syndrome?", "seeds": [ "Dysmorphism-cleft palate-loose skin syndrome" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04424", "question": "What is associated with Fragmentation of the epiphysis of the proximal phalanx of the hallux?", "seeds": [ "Fragmentation of the epiphysis of the proximal phalanx of the hallux" ], "gold_answer": "Fragmentation of the epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04425", "question": "What is associated with Adrenocortical hypoplasia?", "seeds": [ "Adrenocortical hypoplasia" ], "gold_answer": "Abnormality of the adrenal glands", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04426", "question": "What is associated with Autosomal dominant hyperinsulinism due to SUR1 deficiency?", "seeds": [ "Autosomal dominant hyperinsulinism due to SUR1 deficiency" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04427", "question": "What is associated with Telangiectasia of extensor surfaces?", "seeds": [ "Telangiectasia of extensor surfaces" ], "gold_answer": "Telangiectasia of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04428", "question": "What is associated with Desmoid tumor?", "seeds": [ "Desmoid tumor" ], "gold_answer": "Abnormality of the urinary system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04429", "question": "What is associated with Paget disease of bone 5, juvenile-onset?", "seeds": [ "Paget disease of bone 5, juvenile-onset" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04430", "question": "What is associated with Anti-Sm antibody positivity?", "seeds": [ "Anti-Sm antibody positivity" ], "gold_answer": "Antinuclear antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04431", "question": "What is associated with Tachypnea?", "seeds": [ "Tachypnea" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04432", "question": "What is associated with Kleeblattschaedel syndrome?", "seeds": [ "Kleeblattschaedel syndrome" ], "gold_answer": "Corneal erosion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04433", "question": "What phenotype is associated with Macular dystrophy, corneal, 1?", "seeds": [ "Macular dystrophy, corneal, 1" ], "gold_answer": "Photophobia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04434", "question": "What is associated with Abnormal CSF guanidinoacetic acid concentration?", "seeds": [ "Abnormal CSF guanidinoacetic acid concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04435", "question": "What phenotype is associated with Ritscher-Schinzel syndrome 3?", "seeds": [ "Ritscher-Schinzel syndrome 3" ], "gold_answer": "Microphthalmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04436", "question": "What is associated with Cloacal abnormality?", "seeds": [ "Cloacal abnormality" ], "gold_answer": "Abdominal wall defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04437", "question": "What phenotype is associated with Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis?", "seeds": [ "Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04438", "question": "What is associated with Duplication of renal pelvis?", "seeds": [ "Duplication of renal pelvis" ], "gold_answer": "Renal duplication", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04439", "question": "What is associated with Claustrophobia?", "seeds": [ "Claustrophobia" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04440", "question": "What is associated with Combined immunodeficiency with granulomatosis?", "seeds": [ "Combined immunodeficiency with granulomatosis" ], "gold_answer": "RAG1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04441", "question": "What is associated with Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia?", "seeds": [ "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04442", "question": "What is associated with Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion?", "seeds": [ "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion" ], "gold_answer": "Soft tissue sarcoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04443", "question": "What is associated with Carpal synostosis?", "seeds": [ "Carpal synostosis" ], "gold_answer": "Synostosis involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04444", "question": "What is associated with Hypoplasia of the musculature?", "seeds": [ "Hypoplasia of the musculature" ], "gold_answer": "Abnormality of muscle size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04445", "question": "What is associated with Decreased circulating aspartic acid concentration?", "seeds": [ "Decreased circulating aspartic acid concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04446", "question": "What is associated with Childhood onset short-limb short stature?", "seeds": [ "Childhood onset short-limb short stature" ], "gold_answer": "Disproportionate short-limb short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04447", "question": "What is associated with Altman type I sacrococcygeal teratoma?", "seeds": [ "Altman type I sacrococcygeal teratoma" ], "gold_answer": "Embryonal neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04448", "question": "What is associated with Bilateral ductus arteriosus?", "seeds": [ "Bilateral ductus arteriosus" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04449", "question": "What is associated with Increased urinary porphobilinogen?", "seeds": [ "Increased urinary porphobilinogen" ], "gold_answer": "Dicarboxylic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04450", "question": "What is associated with FKRP-related limb-girdle muscular dystrophy R9?", "seeds": [ "FKRP-related limb-girdle muscular dystrophy R9" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04451", "question": "What is associated with Immune dysregulation, neurodevelopmental defects, and colitis?", "seeds": [ "Immune dysregulation, neurodevelopmental defects, and colitis" ], "gold_answer": "Anal fistula", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04452", "question": "What phenotype is associated with Arthrogryposis, distal, type 7?", "seeds": [ "Arthrogryposis, distal, type 7" ], "gold_answer": "Micrognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04453", "question": "What is associated with Homozygous 11p15-p14 deletion syndrome?", "seeds": [ "Homozygous 11p15-p14 deletion syndrome" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04454", "question": "What phenotype is associated with Combined oxidative phosphorylation deficiency 18?", "seeds": [ "Combined oxidative phosphorylation deficiency 18" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04455", "question": "What is associated with Toe syndactyly?", "seeds": [ "Toe syndactyly" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04456", "question": "What is associated with Feeding difficulties in infancy?", "seeds": [ "Feeding difficulties in infancy" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04457", "question": "What is associated with Early-onset non-progressive night blindness?", "seeds": [ "Early-onset non-progressive night blindness" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04458", "question": "What is associated with Type A5 brachydactyly?", "seeds": [ "Type A5 brachydactyly" ], "gold_answer": "Short digit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04459", "question": "What is associated with Pulmonary arterial medial hypertrophy?", "seeds": [ "Pulmonary arterial medial hypertrophy" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04460", "question": "What is associated with Abnormal central response of multifocal electroretinogram?", "seeds": [ "Abnormal central response of multifocal electroretinogram" ], "gold_answer": "Abnormal electroretinogram", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04461", "question": "What is associated with Duplication of the distal phalanx of the 4th finger?", "seeds": [ "Duplication of the distal phalanx of the 4th finger" ], "gold_answer": "Mesoaxial hand polydactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04462", "question": "What is associated with GMPPB-related limb-girdle muscular dystrophy R19?", "seeds": [ "GMPPB-related limb-girdle muscular dystrophy R19" ], "gold_answer": "Distal muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04463", "question": "What is associated with Abnormal ocular adnexa morphology?", "seeds": [ "Abnormal ocular adnexa morphology" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04464", "question": "What is associated with Refractory drug response?", "seeds": [ "Refractory drug response" ], "gold_answer": "Abnormal drug response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04465", "question": "What is associated with Faciocardiomelic syndrome?", "seeds": [ "Faciocardiomelic syndrome" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04466", "question": "What is associated with Limited elbow flexion/extension?", "seeds": [ "Limited elbow flexion/extension" ], "gold_answer": "Limited elbow extension", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04467", "question": "What is associated with Hyperandrogenism due to cortisone reductase deficiency?", "seeds": [ "Hyperandrogenism due to cortisone reductase deficiency" ], "gold_answer": "Abnormal blood monovalent inorganic cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04468", "question": "What phenotype is associated with Hydatidiform mole, recurrent, 1?", "seeds": [ "Hydatidiform mole, recurrent, 1" ], "gold_answer": "Helicobacter pylori infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04469", "question": "What is associated with Increased CSF xylitol concentration?", "seeds": [ "Increased CSF xylitol concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04470", "question": "What is associated with Salivary gland oncocytoma?", "seeds": [ "Salivary gland oncocytoma" ], "gold_answer": "Abnormal salivary gland morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04471", "question": "What is associated with Scapholunate interval widening?", "seeds": [ "Scapholunate interval widening" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04472", "question": "What phenotype is associated with Regional odontodysplasia?", "seeds": [ "Regional odontodysplasia" ], "gold_answer": "Abnormality of the dental root", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04473", "question": "What is associated with Incomplete cleft soft palate?", "seeds": [ "Incomplete cleft soft palate" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04474", "question": "What is associated with High-pitched cry?", "seeds": [ "High-pitched cry" ], "gold_answer": "Abnormal cry", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04475", "question": "What is associated with Decreased neutrophil oxidative burst?", "seeds": [ "Decreased neutrophil oxidative burst" ], "gold_answer": "Abnormal neutrophil physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04476", "question": "What is associated with 10-minute APGAR score of 1?", "seeds": [ "10-minute APGAR score of 1" ], "gold_answer": "Low 10-minute APGAR score", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04477", "question": "What is associated with Autosomal erythropoietic protoporphyria?", "seeds": [ "Autosomal erythropoietic protoporphyria" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04478", "question": "What is associated with Myopia 9?", "seeds": [ "Myopia 9" ], "gold_answer": "Abnormality of refraction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04479", "question": "What is associated with Acute necrotizing encephalopathy?", "seeds": [ "Acute necrotizing encephalopathy" ], "gold_answer": "Acute encephalopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04480", "question": "What is associated with Immunodeficiency 126?", "seeds": [ "Immunodeficiency 126" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04481", "question": "What is associated with Absent Birbeck granules in Langerhans cells?", "seeds": [ "Absent Birbeck granules in Langerhans cells" ], "gold_answer": "Abnormal cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04482", "question": "What is associated with Decreased light- and dark-adapted electroretinogram amplitude?", "seeds": [ "Decreased light- and dark-adapted electroretinogram amplitude" ], "gold_answer": "Abnormal electroretinogram", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04483", "question": "What is associated with Bilateral parasagittal parieto-occipital polymicrogyria?", "seeds": [ "Bilateral parasagittal parieto-occipital polymicrogyria" ], "gold_answer": "Abnormality of the voice", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04484", "question": "What is associated with Narrow nasal tip?", "seeds": [ "Narrow nasal tip" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04485", "question": "What is associated with Elevated circulating porphyrin concentration?", "seeds": [ "Elevated circulating porphyrin concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04486", "question": "What is associated with Abnormality of the common coagulation pathway?", "seeds": [ "Abnormality of the common coagulation pathway" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04487", "question": "What is associated with Multiple mitochondrial DNA deletions?", "seeds": [ "Multiple mitochondrial DNA deletions" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04488", "question": "What is associated with Fetal cytomegalovirus syndrome?", "seeds": [ "Fetal cytomegalovirus syndrome" ], "gold_answer": "Cholestasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04489", "question": "What is associated with Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome?", "seeds": [ "Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome" ], "gold_answer": "ZBTB7A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04490", "question": "What is associated with Curved 1st metatarsal?", "seeds": [ "Curved 1st metatarsal" ], "gold_answer": "Abnormality of the first metatarsal bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04491", "question": "What is associated with Absent metatarsal bone?", "seeds": [ "Absent metatarsal bone" ], "gold_answer": "Aplasia/hypoplasia involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04492", "question": "What is associated with Short mandibular condyles?", "seeds": [ "Short mandibular condyles" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04493", "question": "What is associated with Abnormal cellular composition of bronchoalveolar fluid?", "seeds": [ "Abnormal cellular composition of bronchoalveolar fluid" ], "gold_answer": "Abnormal bronchoalveolar lavage fluid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04494", "question": "What is associated with Hyperkalemic metabolic acidosis?", "seeds": [ "Hyperkalemic metabolic acidosis" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04495", "question": "What phenotype is associated with Iatrogenic botulism?", "seeds": [ "Iatrogenic botulism" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04496", "question": "What phenotype is associated with Diaphragmatic hernia 2?", "seeds": [ "Diaphragmatic hernia 2" ], "gold_answer": "Agenesis of the diaphragm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04497", "question": "What phenotype is associated with Spermatogenic failure, Y-linked, 1?", "seeds": [ "Spermatogenic failure, Y-linked, 1" ], "gold_answer": "Male infertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04498", "question": "What is associated with Mitochondrial complex III deficiency, nuclear type 8?", "seeds": [ "Mitochondrial complex III deficiency, nuclear type 8" ], "gold_answer": "Brain atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04499", "question": "What is associated with Saccadic intrusion?", "seeds": [ "Saccadic intrusion" ], "gold_answer": "Abnormal saccadic eye movements", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04500", "question": "What phenotype is associated with Ulnar/fibula ray defect-brachydactyly syndrome?", "seeds": [ "Ulnar/fibula ray defect-brachydactyly syndrome" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04501", "question": "What is associated with Myopathy, myosin storage, autosomal recessive?", "seeds": [ "Myopathy, myosin storage, autosomal recessive" ], "gold_answer": "Muscle hypertrophy of the lower extremities", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04502", "question": "What is associated with Broad thumb?", "seeds": [ "Broad thumb" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04503", "question": "What is associated with Hypotrichosis 3?", "seeds": [ "Hypotrichosis 3" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04504", "question": "What is associated with GM1-ganglioside accumulation?", "seeds": [ "GM1-ganglioside accumulation" ], "gold_answer": "Ganglioside accumulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04505", "question": "What is associated with Urinary urgency?", "seeds": [ "Urinary urgency" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04506", "question": "What is associated with Abnormal cortical peritubular capillary morphology?", "seeds": [ "Abnormal cortical peritubular capillary morphology" ], "gold_answer": "Abnormal renal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04507", "question": "What phenotype is associated with Question mark ears, isolated?", "seeds": [ "Question mark ears, isolated" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04508", "question": "What is associated with Prominent subcalcaneal fat pad?", "seeds": [ "Prominent subcalcaneal fat pad" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04509", "question": "What is associated with Atrial fibrillation?", "seeds": [ "Atrial fibrillation" ], "gold_answer": "Supraventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04510", "question": "What phenotype is associated with Hypotrichosis 3?", "seeds": [ "Hypotrichosis 3" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04511", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 39?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 39" ], "gold_answer": "Attention deficit hyperactivity disorder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04512", "question": "What is associated with Sclerosis of the middle phalanx of the 2nd finger?", "seeds": [ "Sclerosis of the middle phalanx of the 2nd finger" ], "gold_answer": "Sclerosis of middle phalanx of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04513", "question": "What is associated with Horizontal incomitant strabismus?", "seeds": [ "Horizontal incomitant strabismus" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04514", "question": "What is associated with Methylmalonic acidemia with homocystinuria, type cblC?", "seeds": [ "Methylmalonic acidemia with homocystinuria, type cblC" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04515", "question": "What is associated with Pubertal developmental failure in females?", "seeds": [ "Pubertal developmental failure in females" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04516", "question": "What is associated with Anti-cytosolic-5-nucleotidase-1A antibody positivity?", "seeds": [ "Anti-cytosolic-5-nucleotidase-1A antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04517", "question": "What is associated with Koebner Phenomenon?", "seeds": [ "Koebner Phenomenon" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04518", "question": "What is associated with Peroxisome biogenesis disorder 10B?", "seeds": [ "Peroxisome biogenesis disorder 10B" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04519", "question": "What is associated with Urate-Binding globulin, decrease in?", "seeds": [ "Urate-Binding globulin, decrease in" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04520", "question": "What is associated with Beta-mannosidosis?", "seeds": [ "Beta-mannosidosis" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04521", "question": "What phenotype is associated with Helsmoortel-van der Aa syndrome?", "seeds": [ "Helsmoortel-van der Aa syndrome" ], "gold_answer": "Eyelid coloboma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04522", "question": "What is associated with Perineal hypospadias?", "seeds": [ "Perineal hypospadias" ], "gold_answer": "Displacement of the urethral meatus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04523", "question": "What is associated with Angulation of penis?", "seeds": [ "Angulation of penis" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04524", "question": "What phenotype is associated with Mannose 6-phosphate receptor recognition defect, Lebanese type?", "seeds": [ "Mannose 6-phosphate receptor recognition defect, Lebanese type" ], "gold_answer": "Abnormality of lysosomal metabolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04525", "question": "What is associated with Glutathionuria?", "seeds": [ "Glutathionuria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04526", "question": "What is associated with Facial paresis, hereditary congenital, 1?", "seeds": [ "Facial paresis, hereditary congenital, 1" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04527", "question": "What is associated with Absent epiphysis of the middle phalanx of the 3rd finger?", "seeds": [ "Absent epiphysis of the middle phalanx of the 3rd finger" ], "gold_answer": "Abnormal 3rd finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04528", "question": "What is associated with Glue ear?", "seeds": [ "Glue ear" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04529", "question": "What is associated with Restless legs?", "seeds": [ "Restless legs" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04530", "question": "What is associated with 6-@phosphogluconolactonase deficiency?", "seeds": [ "6-@phosphogluconolactonase deficiency" ], "gold_answer": "Anemia due to reduced life span of red cells", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04531", "question": "What is associated with Irregular epiphyses of the proximal phalanges of the hand?", "seeds": [ "Irregular epiphyses of the proximal phalanges of the hand" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04532", "question": "What phenotype is associated with Wilms tumor 6?", "seeds": [ "Wilms tumor 6" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04533", "question": "What phenotype is associated with Spinocerebellar ataxia type 17?", "seeds": [ "Spinocerebellar ataxia type 17" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04534", "question": "What phenotype is associated with Camptodactyly syndrome, Guadalajara type 1?", "seeds": [ "Camptodactyly syndrome, Guadalajara type 1" ], "gold_answer": "Sacral dimple", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04535", "question": "What is associated with Hypocalcemia?", "seeds": [ "Hypocalcemia" ], "gold_answer": "Abnormal blood inorganic cation concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04536", "question": "What is associated with Neurodevelopmental disorder with epilepsy and brain atrophy?", "seeds": [ "Neurodevelopmental disorder with epilepsy and brain atrophy" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04537", "question": "What phenotype is associated with Epidermolysis bullosa simplex, Dowling-Meara type?", "seeds": [ "Epidermolysis bullosa simplex, Dowling-Meara type" ], "gold_answer": "Tonofilament clumping", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04538", "question": "What phenotype is associated with FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5?", "seeds": [ "FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5" ], "gold_answer": "Persistence of hemoglobin F", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04539", "question": "What is associated with Radial head subluxation?", "seeds": [ "Radial head subluxation" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04540", "question": "What phenotype is associated with Preauricular fistulae, congenital?", "seeds": [ "Preauricular fistulae, congenital" ], "gold_answer": "Preauricular pit", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04541", "question": "What is associated with Pachyonychia congenita?", "seeds": [ "Pachyonychia congenita" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04542", "question": "What is associated with Borderline personality disorder?", "seeds": [ "Borderline personality disorder" ], "gold_answer": "Personality disorder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04543", "question": "What is associated with Spectrin-associated autosomal recessive cerebellar ataxia?", "seeds": [ "Spectrin-associated autosomal recessive cerebellar ataxia" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04544", "question": "What is associated with Hereditary cerebral amyloid angiopathy?", "seeds": [ "Hereditary cerebral amyloid angiopathy" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04545", "question": "What is associated with Pseudoepiphysis of the middle phalanx of the 3rd toe?", "seeds": [ "Pseudoepiphysis of the middle phalanx of the 3rd toe" ], "gold_answer": "Pseudoepiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04546", "question": "What is associated with Digital ischemia?", "seeds": [ "Digital ischemia" ], "gold_answer": "Abnormal arterial physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04547", "question": "What is associated with Metaphyseal spurs?", "seeds": [ "Metaphyseal spurs" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04548", "question": "What is associated with Trisomy 18 syndrome?", "seeds": [ "Trisomy 18 syndrome" ], "gold_answer": "FLT4", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_04549", "question": "What is associated with Brachyolmia type 2?", "seeds": [ "Brachyolmia type 2" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04550", "question": "What is associated with Marginal corneal dystrophy?", "seeds": [ "Marginal corneal dystrophy" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04551", "question": "What is associated with Flared distal tibial metaphysis?", "seeds": [ "Flared distal tibial metaphysis" ], "gold_answer": "Flared lower limb metaphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04552", "question": "What is associated with Pelizaeus-Merzbacher disease, connatal form?", "seeds": [ "Pelizaeus-Merzbacher disease, connatal form" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04553", "question": "What is associated with Sleep-interrupting?", "seeds": [ "Sleep-interrupting" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04554", "question": "What phenotype is associated with Somatomammotropinoma?", "seeds": [ "Somatomammotropinoma" ], "gold_answer": "Diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04555", "question": "What is associated with Multiple exostoses with spastic tetraparesis?", "seeds": [ "Multiple exostoses with spastic tetraparesis" ], "gold_answer": "Appendicular spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04556", "question": "What is associated with Michaelis-Gutmann bodies?", "seeds": [ "Michaelis-Gutmann bodies" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04557", "question": "What is associated with Thumb deformity-alopecia-pigmentation anomaly syndrome?", "seeds": [ "Thumb deformity-alopecia-pigmentation anomaly syndrome" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04558", "question": "What is associated with Small epiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Small epiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Small epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04559", "question": "What phenotype is associated with SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6?", "seeds": [ "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04560", "question": "What phenotype is associated with Premature ovarian failure 5?", "seeds": [ "Premature ovarian failure 5" ], "gold_answer": "Reduced antral follicle count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04561", "question": "What is associated with Ileus?", "seeds": [ "Ileus" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04562", "question": "What phenotype is associated with Cholestasis, progressive familial intrahepatic 4?", "seeds": [ "Cholestasis, progressive familial intrahepatic 4" ], "gold_answer": "Intrahepatic cholestasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04563", "question": "What is associated with Ectopic accessory finger-like appendage?", "seeds": [ "Ectopic accessory finger-like appendage" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04564", "question": "What is associated with Carney triad?", "seeds": [ "Carney triad" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04565", "question": "What phenotype is associated with Leptin deficiency or dysfunction?", "seeds": [ "Leptin deficiency or dysfunction" ], "gold_answer": "Decreased serum leptin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04566", "question": "What is associated with Abnormal cartilage collagen?", "seeds": [ "Abnormal cartilage collagen" ], "gold_answer": "Abnormal cartilage morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04567", "question": "What is associated with Early chronotype?", "seeds": [ "Early chronotype" ], "gold_answer": "Sleep-wake cycle disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04568", "question": "What phenotype is associated with Basal ganglia calcification, idiopathic, 8, autosomal recessive?", "seeds": [ "Basal ganglia calcification, idiopathic, 8, autosomal recessive" ], "gold_answer": "Limb ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04569", "question": "What phenotype is associated with Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5?", "seeds": [ "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5" ], "gold_answer": "Right ventricular hypertrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04570", "question": "What is associated with Trehalase deficiency?", "seeds": [ "Trehalase deficiency" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04571", "question": "What is associated with Bimanual synkinesia?", "seeds": [ "Bimanual synkinesia" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04572", "question": "What is associated with RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic?", "seeds": [ "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04573", "question": "What is associated with Esotropia?", "seeds": [ "Esotropia" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04574", "question": "What is associated with Absent neutrophil lactoferrin?", "seeds": [ "Absent neutrophil lactoferrin" ], "gold_answer": "Abnormal neutrophil morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04575", "question": "What is associated with Seesaw nystagmus?", "seeds": [ "Seesaw nystagmus" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04576", "question": "What is associated with Decreased motor nerve conduction velocity?", "seeds": [ "Decreased motor nerve conduction velocity" ], "gold_answer": "Abnormal nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04577", "question": "What is associated with Hot water-induced seizure?", "seeds": [ "Hot water-induced seizure" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04578", "question": "What is associated with Prominent scalp veins?", "seeds": [ "Prominent scalp veins" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04579", "question": "What is associated with FGFR2-related bent bone dysplasia?", "seeds": [ "FGFR2-related bent bone dysplasia" ], "gold_answer": "Abnormality of the calf", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04580", "question": "What is associated with Abnormal cricoid cartilage morphology?", "seeds": [ "Abnormal cricoid cartilage morphology" ], "gold_answer": "Abnormal larynx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04581", "question": "What is associated with Abnormal circulating membrane cofactor protein concentration?", "seeds": [ "Abnormal circulating membrane cofactor protein concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04582", "question": "What is associated with 4H leukodystrophy?", "seeds": [ "4H leukodystrophy" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04583", "question": "What is associated with Megaloblastic erythroid hyperplasia?", "seeds": [ "Megaloblastic erythroid hyperplasia" ], "gold_answer": "Erythroid hyperplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04584", "question": "What phenotype is associated with Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase?", "seeds": [ "Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase" ], "gold_answer": "Recurrent pancreatitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04585", "question": "What is associated with INTUSSUSCEPTION?", "seeds": [ "INTUSSUSCEPTION" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04586", "question": "What is associated with Pes planus?", "seeds": [ "Pes planus" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04587", "question": "What is associated with Pancreatic abscess?", "seeds": [ "Pancreatic abscess" ], "gold_answer": "Abnormal pancreas morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04588", "question": "What is associated with Progressive scapulohumeroperoneal distal myopathy?", "seeds": [ "Progressive scapulohumeroperoneal distal myopathy" ], "gold_answer": "ACTA1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04589", "question": "What is associated with Sclerotic humeral metaphysis with longitudinal striations?", "seeds": [ "Sclerotic humeral metaphysis with longitudinal striations" ], "gold_answer": "Sclerotic humeral metaphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04590", "question": "What is associated with Fragmentation of the epiphysis of the proximal phalanx of the thumb?", "seeds": [ "Fragmentation of the epiphysis of the proximal phalanx of the thumb" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04591", "question": "What is associated with Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum?", "seeds": [ "Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04592", "question": "What is associated with Febrile status epilepticus?", "seeds": [ "Febrile status epilepticus" ], "gold_answer": "Complex febrile seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04593", "question": "What phenotype is associated with Marbach-Schaaf neurodevelopmental syndrome?", "seeds": [ "Marbach-Schaaf neurodevelopmental syndrome" ], "gold_answer": "Enuresis nocturna", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04594", "question": "What is associated with Juvenile rheumatoid arthritis?", "seeds": [ "Juvenile rheumatoid arthritis" ], "gold_answer": "Abnormal phalangeal joint morphology of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04595", "question": "What is associated with Generalized morning stiffness?", "seeds": [ "Generalized morning stiffness" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04596", "question": "What is associated with Anti-LABD97 antibody positivity?", "seeds": [ "Anti-LABD97 antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04597", "question": "What is associated with Microphthalmia, isolated 7?", "seeds": [ "Microphthalmia, isolated 7" ], "gold_answer": "Aplasia/Hypoplasia affecting the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04598", "question": "What is associated with Palmoplantar cutis laxa?", "seeds": [ "Palmoplantar cutis laxa" ], "gold_answer": "Cutis laxa", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04599", "question": "What is associated with Bethlem myopathy 1A?", "seeds": [ "Bethlem myopathy 1A" ], "gold_answer": "Foot joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04600", "question": "What phenotype is associated with Angelman syndrome due to imprinting defect in 15q11-q13?", "seeds": [ "Angelman syndrome due to imprinting defect in 15q11-q13" ], "gold_answer": "Drooling", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04601", "question": "What phenotype is associated with Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?", "seeds": [ "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04602", "question": "What is associated with Enlarged Eustachian valve?", "seeds": [ "Enlarged Eustachian valve" ], "gold_answer": "Abnormal venous morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04603", "question": "What is associated with Branchiootic syndrome 2?", "seeds": [ "Branchiootic syndrome 2" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04604", "question": "What is associated with Tactile sensory seeking?", "seeds": [ "Tactile sensory seeking" ], "gold_answer": "Sensory seeking", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04605", "question": "What is associated with Abnormal circulating amylase concentration?", "seeds": [ "Abnormal circulating amylase concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04606", "question": "What is associated with Abnormal CSF isoleucine concentration?", "seeds": [ "Abnormal CSF isoleucine concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04607", "question": "What is associated with Recurrent aspiration pneumonia?", "seeds": [ "Recurrent aspiration pneumonia" ], "gold_answer": "Pneumonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04608", "question": "What phenotype is associated with Cortical blindness-intellectual disability-polydactyly syndrome?", "seeds": [ "Cortical blindness-intellectual disability-polydactyly syndrome" ], "gold_answer": "Optic nerve hypoplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04609", "question": "What phenotype is associated with Alsahan-Harris syndrome?", "seeds": [ "Alsahan-Harris syndrome" ], "gold_answer": "Flat occiput", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04610", "question": "What is associated with Thickened helices?", "seeds": [ "Thickened helices" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04611", "question": "What is associated with Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities?", "seeds": [ "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04612", "question": "What is associated with Clonal T cell receptor rearrangement?", "seeds": [ "Clonal T cell receptor rearrangement" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04613", "question": "What is associated with Jaw mass?", "seeds": [ "Jaw mass" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04614", "question": "What is associated with Left ventricular dilatation?", "seeds": [ "Left ventricular dilatation" ], "gold_answer": "Abnormal left ventricle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04615", "question": "What is associated with Reticulated skin pigmentation?", "seeds": [ "Reticulated skin pigmentation" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04616", "question": "What is associated with Abnormal portal venous system morphology?", "seeds": [ "Abnormal portal venous system morphology" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04617", "question": "What phenotype is associated with Lumbar stenosis, familial?", "seeds": [ "Lumbar stenosis, familial" ], "gold_answer": "Lumbar spinal canal stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04618", "question": "What is associated with Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency?", "seeds": [ "Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" ], "gold_answer": "Ophthalmoparesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04619", "question": "What phenotype is associated with Cerebral angiopathy, dysphoric?", "seeds": [ "Cerebral angiopathy, dysphoric" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04620", "question": "What is associated with Mannosidosis, beta?", "seeds": [ "Mannosidosis, beta" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04621", "question": "What is associated with Mucopolysaccharidosis type 3?", "seeds": [ "Mucopolysaccharidosis type 3" ], "gold_answer": "Sleep-related breathing disorders", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04622", "question": "What phenotype is associated with Nephronophthisis 4?", "seeds": [ "Nephronophthisis 4" ], "gold_answer": "Renal tubular atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04623", "question": "What is associated with Positive urine Legionella pneumophila antigen test?", "seeds": [ "Positive urine Legionella pneumophila antigen test" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04624", "question": "What is associated with Patchy reduction of bone mineral density?", "seeds": [ "Patchy reduction of bone mineral density" ], "gold_answer": "Abnormal bone structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04625", "question": "What is associated with Spastic paraplegia 48, autosomal recessive?", "seeds": [ "Spastic paraplegia 48, autosomal recessive" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04626", "question": "What is associated with Nailfold capillary tortuosity?", "seeds": [ "Nailfold capillary tortuosity" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04627", "question": "What is associated with Single fiber EMG abnormality?", "seeds": [ "Single fiber EMG abnormality" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04628", "question": "What is associated with Preretinal hemorrhage?", "seeds": [ "Preretinal hemorrhage" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04629", "question": "What is associated with 46,xx sex reversal 3?", "seeds": [ "46,xx sex reversal 3" ], "gold_answer": "Abnormal sex determination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04630", "question": "What is associated with Functional intestinal obstruction?", "seeds": [ "Functional intestinal obstruction" ], "gold_answer": "Gastrointestinal obstruction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04631", "question": "What is associated with Erythematous macule?", "seeds": [ "Erythematous macule" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04632", "question": "What is associated with Collectionism?", "seeds": [ "Collectionism" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04633", "question": "What is associated with Spinocerebellar ataxia 29, congenital nonprogressive?", "seeds": [ "Spinocerebellar ataxia 29, congenital nonprogressive" ], "gold_answer": "Slanting of the palpebral fissure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04634", "question": "What is associated with Medial deviation of the foot?", "seeds": [ "Medial deviation of the foot" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04635", "question": "What is associated with Digital flexor tenosynovitis?", "seeds": [ "Digital flexor tenosynovitis" ], "gold_answer": "Tenosynovitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04636", "question": "What is associated with Increased urine isobutyrylglycine concentration?", "seeds": [ "Increased urine isobutyrylglycine concentration" ], "gold_answer": "Increased urine proteinogenic amino acid derivative level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04637", "question": "What is associated with Abnormality of the round window?", "seeds": [ "Abnormality of the round window" ], "gold_answer": "Abnormality of the ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04638", "question": "What is associated with Narrow joint spaces of the elbow?", "seeds": [ "Narrow joint spaces of the elbow" ], "gold_answer": "Abnormality of the joint spaces of the elbow", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04639", "question": "What is associated with Severe constriction of peripheral visual field?", "seeds": [ "Severe constriction of peripheral visual field" ], "gold_answer": "Constriction of peripheral visual field", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04640", "question": "What is associated with Combined immunodeficiency due to IL21R deficiency?", "seeds": [ "Combined immunodeficiency due to IL21R deficiency" ], "gold_answer": "IL21R", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_04641", "question": "What phenotype is associated with Aymé-Gripp syndrome?", "seeds": [ "Aymé-Gripp syndrome" ], "gold_answer": "Abnormality of primary molar morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04642", "question": "What phenotype is associated with Baller-Gerold syndrome?", "seeds": [ "Baller-Gerold syndrome" ], "gold_answer": "Dermal atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04643", "question": "What is associated with Subacute cutaneous lupus erythematosus?", "seeds": [ "Subacute cutaneous lupus erythematosus" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04644", "question": "What is associated with Insect stings, hypersensitivity to?", "seeds": [ "Insect stings, hypersensitivity to" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04645", "question": "What is associated with Generalized hypopigmentation of hair?", "seeds": [ "Generalized hypopigmentation of hair" ], "gold_answer": "Abnormality of hair pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04646", "question": "What is associated with NIK deficiency?", "seeds": [ "NIK deficiency" ], "gold_answer": "MAP3K14", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_04647", "question": "What is associated with Intellectual disability-seizures-macrocephaly-obesity syndrome?", "seeds": [ "Intellectual disability-seizures-macrocephaly-obesity syndrome" ], "gold_answer": "Abnormal QRS complex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04648", "question": "What is associated with Elevated circulating apolipoprotein A-II concentration?", "seeds": [ "Elevated circulating apolipoprotein A-II concentration" ], "gold_answer": "Increased circulating apolipoprotein circulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04649", "question": "What is associated with Limited ankle dorsiflexion?", "seeds": [ "Limited ankle dorsiflexion" ], "gold_answer": "Abnormal ankle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04650", "question": "What is associated with Enlarged flash visual evoked potentials?", "seeds": [ "Enlarged flash visual evoked potentials" ], "gold_answer": "Abnormal flash visual evoked potentials", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04651", "question": "What is associated with Advanced tarsal ossification?", "seeds": [ "Advanced tarsal ossification" ], "gold_answer": "Abnormal tarsal ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04652", "question": "What is associated with Elevated circulating beta-mannosidase activity?", "seeds": [ "Elevated circulating beta-mannosidase activity" ], "gold_answer": "Abnormal circulating beta-mannosidase activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04653", "question": "What is associated with Anti-angiotensin receptor type-1 antibody positivity?", "seeds": [ "Anti-angiotensin receptor type-1 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04654", "question": "What phenotype is associated with Congenital heart defects and skeletal malformations syndrome?", "seeds": [ "Congenital heart defects and skeletal malformations syndrome" ], "gold_answer": "Hypoplastic left ventricle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04655", "question": "What is associated with Endolymphatic sac tumor?", "seeds": [ "Endolymphatic sac tumor" ], "gold_answer": "Neoplasm of the inner ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04656", "question": "What is associated with Abnormality of the radial head?", "seeds": [ "Abnormality of the radial head" ], "gold_answer": "Abnormal morphology of the radius", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04657", "question": "What phenotype is associated with AICA-ribosiduria due to ATIC deficiency?", "seeds": [ "AICA-ribosiduria due to ATIC deficiency" ], "gold_answer": "Wide mouth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04658", "question": "What is associated with Autosomal dominant spastic paraplegia type 6?", "seeds": [ "Autosomal dominant spastic paraplegia type 6" ], "gold_answer": "Abnormal pyramidal sign", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04659", "question": "What is associated with Partial duplication of the phalanges of the hallux?", "seeds": [ "Partial duplication of the phalanges of the hallux" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04660", "question": "What is associated with Small epiphyses of the 5th toe?", "seeds": [ "Small epiphyses of the 5th toe" ], "gold_answer": "Abnormality of the epiphyses of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04661", "question": "What is associated with Abnormality of the epiphysis of the middle phalanx of the 3rd finger?", "seeds": [ "Abnormality of the epiphysis of the middle phalanx of the 3rd finger" ], "gold_answer": "Abnormal middle phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04662", "question": "What is associated with Granulomatous arteriolitis of the arteriolar intima/media?", "seeds": [ "Granulomatous arteriolitis of the arteriolar intima/media" ], "gold_answer": "Renal intimal/medial arteriolitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04663", "question": "What is associated with Cerebral palsy, spastic quadriplegic, 3?", "seeds": [ "Cerebral palsy, spastic quadriplegic, 3" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04664", "question": "What is associated with Palmoplantar keratoderma, nonepidermolytic, focal 2?", "seeds": [ "Palmoplantar keratoderma, nonepidermolytic, focal 2" ], "gold_answer": "Plantar hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04665", "question": "What is associated with Solid pulmonary nodule?", "seeds": [ "Solid pulmonary nodule" ], "gold_answer": "Pulmonary nodule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04666", "question": "What is associated with NESCAV syndrome?", "seeds": [ "NESCAV syndrome" ], "gold_answer": "Hyperactivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04667", "question": "What phenotype is associated with Polycystic kidney disease 2?", "seeds": [ "Polycystic kidney disease 2" ], "gold_answer": "Multiple renal cysts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04668", "question": "What is associated with Increased circulating carnosine concentration?", "seeds": [ "Increased circulating carnosine concentration" ], "gold_answer": "Abnormal circulating carnosine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04669", "question": "What is associated with Cystinosis, adult nonnephropathic?", "seeds": [ "Cystinosis, adult nonnephropathic" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04670", "question": "What is associated with Contracture of the metacarpophalangeal joint of the 2nd finger?", "seeds": [ "Contracture of the metacarpophalangeal joint of the 2nd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04671", "question": "What is associated with Skewed maternal X inactivation?", "seeds": [ "Skewed maternal X inactivation" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04672", "question": "What is associated with Arthrogryposis multiplex congenita 6?", "seeds": [ "Arthrogryposis multiplex congenita 6" ], "gold_answer": "Congenital contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04673", "question": "What phenotype is associated with Peripheral dysostosis?", "seeds": [ "Peripheral dysostosis" ], "gold_answer": "Short phalanx of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04674", "question": "What is associated with Antiparietal cell antibody positivity?", "seeds": [ "Antiparietal cell antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04675", "question": "What is associated with Abnormal external ear cartilage morphology?", "seeds": [ "Abnormal external ear cartilage morphology" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04676", "question": "What is associated with Primary hepatic neuroendocrine carcinoma?", "seeds": [ "Primary hepatic neuroendocrine carcinoma" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04677", "question": "What is associated with Long thorax?", "seeds": [ "Long thorax" ], "gold_answer": "Enlarged thorax", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04678", "question": "What is associated with Accessory scrotum?", "seeds": [ "Accessory scrotum" ], "gold_answer": "Abnormal scrotum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04679", "question": "What is associated with Shiga toxin-associated hemolytic uremic syndrome?", "seeds": [ "Shiga toxin-associated hemolytic uremic syndrome" ], "gold_answer": "Anorectal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04680", "question": "What is associated with Hippocampal sclerosis?", "seeds": [ "Hippocampal sclerosis" ], "gold_answer": "Abnormal glial cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04681", "question": "What is associated with Elevated urinary succinylaminoimidazole carboxamide riboside level?", "seeds": [ "Elevated urinary succinylaminoimidazole carboxamide riboside level" ], "gold_answer": "Abnormal urinary nucleobase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04682", "question": "What phenotype is associated with Deafness, congenital neurosensory, autosomal recessive 40?", "seeds": [ "Deafness, congenital neurosensory, autosomal recessive 40" ], "gold_answer": "Prelingual sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04683", "question": "What is associated with Avoidance of emotional intimacy?", "seeds": [ "Avoidance of emotional intimacy" ], "gold_answer": "Abnormal social behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04684", "question": "What is associated with Delayed myelination?", "seeds": [ "Delayed myelination" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04685", "question": "What phenotype is associated with Hypoparathyroidism, familial isolated?", "seeds": [ "Hypoparathyroidism, familial isolated" ], "gold_answer": "Hypocalcemic seizures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04686", "question": "What is associated with Abnormal limb bone morphology?", "seeds": [ "Abnormal limb bone morphology" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04687", "question": "What is associated with Oculocutaneous albinism type 1A?", "seeds": [ "Oculocutaneous albinism type 1A" ], "gold_answer": "Abnormal brain-evoked potentials", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04688", "question": "What is associated with Hyperpituitarism?", "seeds": [ "Hyperpituitarism" ], "gold_answer": "Abnormal pituitary gland morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04689", "question": "What is associated with Reduced circulating fibronectin level?", "seeds": [ "Reduced circulating fibronectin level" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04690", "question": "What is associated with Anti-SEZ6L2 antibody?", "seeds": [ "Anti-SEZ6L2 antibody" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04691", "question": "What phenotype is associated with Mitochondrial myopathy with reversible cytochrome C oxidase deficiency?", "seeds": [ "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04692", "question": "What is associated with Ear antitragus, tag at base of?", "seeds": [ "Ear antitragus, tag at base of" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04693", "question": "What phenotype is associated with Lissencephaly 3?", "seeds": [ "Lissencephaly 3" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04694", "question": "What is associated with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1?", "seeds": [ "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" ], "gold_answer": "Tremor by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04695", "question": "What is associated with Tooth agenesis, selective, 4?", "seeds": [ "Tooth agenesis, selective, 4" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04696", "question": "What is associated with Congenital finger flexion contractures?", "seeds": [ "Congenital finger flexion contractures" ], "gold_answer": "Abnormal phalangeal joint morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04697", "question": "What is associated with Focal autonomic seizure with pupillary dilation/constriction?", "seeds": [ "Focal autonomic seizure with pupillary dilation/constriction" ], "gold_answer": "Focal autonomic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04698", "question": "What is associated with Cervical clear cell adenocarcinoma?", "seeds": [ "Cervical clear cell adenocarcinoma" ], "gold_answer": "Vaginal neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04699", "question": "What is associated with Pemphigoid gestationis?", "seeds": [ "Pemphigoid gestationis" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04700", "question": "What is associated with Ankyloblepharon filiforme adnatum and cleft palate?", "seeds": [ "Ankyloblepharon filiforme adnatum and cleft palate" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04701", "question": "What phenotype is associated with Kleefstra syndrome 2?", "seeds": [ "Kleefstra syndrome 2" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04702", "question": "What is associated with Barrel-shaped chest?", "seeds": [ "Barrel-shaped chest" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04703", "question": "What is associated with Constant exotropia?", "seeds": [ "Constant exotropia" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04704", "question": "What is associated with Episodic ataxia type 1?", "seeds": [ "Episodic ataxia type 1" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04705", "question": "What is associated with Bronchial atresia?", "seeds": [ "Bronchial atresia" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04706", "question": "What is associated with Aplasia/Hypoplasia of the cerebrum?", "seeds": [ "Aplasia/Hypoplasia of the cerebrum" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04707", "question": "What is associated with Retinitis pigmentosa 32?", "seeds": [ "Retinitis pigmentosa 32" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04708", "question": "What is associated with Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies?", "seeds": [ "Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies" ], "gold_answer": "Hyperbilirubinemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04709", "question": "What is associated with Elevated urine propionylglycine level?", "seeds": [ "Elevated urine propionylglycine level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04710", "question": "What is associated with Hopelessness?", "seeds": [ "Hopelessness" ], "gold_answer": "Abnormal preoccupation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04711", "question": "What is associated with Malignant epithelial tumor of salivary glands?", "seeds": [ "Malignant epithelial tumor of salivary glands" ], "gold_answer": "PRKD1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_04712", "question": "What is associated with Short middle phalanx of the 4th toe?", "seeds": [ "Short middle phalanx of the 4th toe" ], "gold_answer": "Short phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04713", "question": "What is associated with Ulnar translocation of the carpus?", "seeds": [ "Ulnar translocation of the carpus" ], "gold_answer": "Abnormal carpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04714", "question": "What is associated with Symphalangism, proximal, 1B?", "seeds": [ "Symphalangism, proximal, 1B" ], "gold_answer": "Proximal finger symphalangism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04715", "question": "What is associated with Abnormal nasal mucosa morphology?", "seeds": [ "Abnormal nasal mucosa morphology" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04716", "question": "What is associated with Self-biting?", "seeds": [ "Self-biting" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04717", "question": "What phenotype is associated with Thyroid hormone resistance, generalized, autosomal recessive?", "seeds": [ "Thyroid hormone resistance, generalized, autosomal recessive" ], "gold_answer": "Increased body weight", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04718", "question": "What is associated with Cervical C5/C6 vertebrae fusion?", "seeds": [ "Cervical C5/C6 vertebrae fusion" ], "gold_answer": "Vertebral fusion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04719", "question": "What is associated with Parietal encephalocele?", "seeds": [ "Parietal encephalocele" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04720", "question": "What is associated with Dorsal flexion contracture of the ankle?", "seeds": [ "Dorsal flexion contracture of the ankle" ], "gold_answer": "Abnormal ankle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04721", "question": "What is associated with Abnormality of the cochlear nerve?", "seeds": [ "Abnormality of the cochlear nerve" ], "gold_answer": "Abnormal inner ear nerve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04722", "question": "What is associated with Positive CSF JC-virus antibody positivity?", "seeds": [ "Positive CSF JC-virus antibody positivity" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04723", "question": "What is associated with Fibrous syngnathia?", "seeds": [ "Fibrous syngnathia" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04724", "question": "What is associated with Transverse terminal lower limb defect?", "seeds": [ "Transverse terminal lower limb defect" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04725", "question": "What is associated with Fatigable weakness of swallowing muscles?", "seeds": [ "Fatigable weakness of swallowing muscles" ], "gold_answer": "Fatigable weakness of bulbar muscles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04726", "question": "What is associated with Corneal transplant history?", "seeds": [ "Corneal transplant history" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04727", "question": "What is associated with Abnormal transition from sleep to wakefulness?", "seeds": [ "Abnormal transition from sleep to wakefulness" ], "gold_answer": "Sleep-wake transition abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04728", "question": "What is associated with Polysyndactyly with cardiac malformation?", "seeds": [ "Polysyndactyly with cardiac malformation" ], "gold_answer": "Abnormal nostril morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04729", "question": "What is associated with Decreased prothrombin time?", "seeds": [ "Decreased prothrombin time" ], "gold_answer": "Abnormal prothrombin time", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04730", "question": "What is associated with Left ventricular noncompaction cardiomyopathy?", "seeds": [ "Left ventricular noncompaction cardiomyopathy" ], "gold_answer": "Noncompaction cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04731", "question": "What phenotype is associated with Pulmonary bullae causing pneumothorax?", "seeds": [ "Pulmonary bullae causing pneumothorax" ], "gold_answer": "Repeated pneumothoraces", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04732", "question": "What phenotype is associated with Microcephaly-brain defect-spasticity-hypernatremia syndrome?", "seeds": [ "Microcephaly-brain defect-spasticity-hypernatremia syndrome" ], "gold_answer": "Holoprosencephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04733", "question": "What is associated with Spermatogenic failure 49?", "seeds": [ "Spermatogenic failure 49" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04734", "question": "What is associated with Decreased circulating ACTH concentration?", "seeds": [ "Decreased circulating ACTH concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04735", "question": "What phenotype is associated with Glycogen storage disease Ic?", "seeds": [ "Glycogen storage disease Ic" ], "gold_answer": "Hematuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04736", "question": "What is associated with Cutaneous mastocytosis-deafness-microtia syndrome?", "seeds": [ "Cutaneous mastocytosis-deafness-microtia syndrome" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04737", "question": "What phenotype is associated with Plasminogen deficiency, type I?", "seeds": [ "Plasminogen deficiency, type I" ], "gold_answer": "Macrocephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04738", "question": "What is associated with Frontotemporal dementia and/or amyotrophic lateral sclerosis 6?", "seeds": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 6" ], "gold_answer": "NEFH", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_04739", "question": "What is associated with Disseminated cutaneous warts?", "seeds": [ "Disseminated cutaneous warts" ], "gold_answer": "Papilloma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04740", "question": "What is associated with Complement component 4B deficiency?", "seeds": [ "Complement component 4B deficiency" ], "gold_answer": "Pneumonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04741", "question": "What is associated with Familial episodic pain syndrome with predominantly upper body involvement?", "seeds": [ "Familial episodic pain syndrome with predominantly upper body involvement" ], "gold_answer": "TRPA1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_train_04742", "question": "What is associated with Abnormal metabolic brain imaging by MRS?", "seeds": [ "Abnormal metabolic brain imaging by MRS" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04743", "question": "What is associated with Isoniazid exposure?", "seeds": [ "Isoniazid exposure" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04744", "question": "What is associated with Abnormality of the pulmonary artery?", "seeds": [ "Abnormality of the pulmonary artery" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04745", "question": "What is associated with Renal atrophy?", "seeds": [ "Renal atrophy" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04746", "question": "What is associated with Neoplasm of the peripheral nervous system?", "seeds": [ "Neoplasm of the peripheral nervous system" ], "gold_answer": "Abnormal peripheral nervous system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04747", "question": "What phenotype is associated with Cystic disease of lung?", "seeds": [ "Cystic disease of lung" ], "gold_answer": "Spontaneous neonatal pneumothorax", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04748", "question": "What is associated with Refractory macrocytic anemia?", "seeds": [ "Refractory macrocytic anemia" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04749", "question": "What is associated with Hypertrophic osteoarthropathy, primary, autosomal recessive 1?", "seeds": [ "Hypertrophic osteoarthropathy, primary, autosomal recessive 1" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04750", "question": "What is associated with Positive fecal parasite test?", "seeds": [ "Positive fecal parasite test" ], "gold_answer": "Abnormal stool composition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04751", "question": "What is associated with Large radial epiphyses?", "seeds": [ "Large radial epiphyses" ], "gold_answer": "Enlarged epiphyses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04752", "question": "What phenotype is associated with Cystic angiomatosis of bone, diffuse?", "seeds": [ "Cystic angiomatosis of bone, diffuse" ], "gold_answer": "Cystic angiomatosis of bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04753", "question": "What is associated with Severe demyelination of the white matter?", "seeds": [ "Severe demyelination of the white matter" ], "gold_answer": "CNS demyelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04754", "question": "What is associated with Congenital hypertrophy of retinal pigment epithelium?", "seeds": [ "Congenital hypertrophy of retinal pigment epithelium" ], "gold_answer": "Abnormal fundus pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04755", "question": "What is associated with Extramedullary hematopoiesis?", "seeds": [ "Extramedullary hematopoiesis" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04756", "question": "What phenotype is associated with Inflammatory bowel disease 11?", "seeds": [ "Inflammatory bowel disease 11" ], "gold_answer": "Diarrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04757", "question": "What is associated with Malaligned philtral ridges?", "seeds": [ "Malaligned philtral ridges" ], "gold_answer": "Abnormality of the philtrum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04758", "question": "What is associated with Abnormality of uvular muscle?", "seeds": [ "Abnormality of uvular muscle" ], "gold_answer": "Abnormality of musculature of soft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04759", "question": "What is associated with Increased urine harderoporphyrin level?", "seeds": [ "Increased urine harderoporphyrin level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04760", "question": "What phenotype is associated with Tuberous sclerosis-2?", "seeds": [ "Tuberous sclerosis-2" ], "gold_answer": "Ventriculomegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04761", "question": "What phenotype is associated with Spondyloepimetaphyseal dysplasia, Krakow type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, Krakow type" ], "gold_answer": "Immunodeficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04762", "question": "What is associated with Hydronephrosis?", "seeds": [ "Hydronephrosis" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04763", "question": "What is associated with Absent epiphysis of the distal phalanx of the 3rd toe?", "seeds": [ "Absent epiphysis of the distal phalanx of the 3rd toe" ], "gold_answer": "Absent epiphyses", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04764", "question": "What is associated with Elevated CSF 5-hydroxymethyluracil concentration?", "seeds": [ "Elevated CSF 5-hydroxymethyluracil concentration" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04765", "question": "What is associated with Decreased CSF homovanillic acid concentration?", "seeds": [ "Decreased CSF homovanillic acid concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04766", "question": "What is associated with Anti-H2A antibody positivity?", "seeds": [ "Anti-H2A antibody positivity" ], "gold_answer": "Antinuclear antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04767", "question": "What is associated with Mesomelic dysplasia-digital anomalies-intellectual disability syndrome?", "seeds": [ "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome" ], "gold_answer": "AFF3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04768", "question": "What is associated with Vaginal myxoma?", "seeds": [ "Vaginal myxoma" ], "gold_answer": "Vaginal neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04769", "question": "What is associated with Orofacial dyskinesia?", "seeds": [ "Orofacial dyskinesia" ], "gold_answer": "Dyskinesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04770", "question": "What is associated with Cockayne syndrome?", "seeds": [ "Cockayne syndrome" ], "gold_answer": "Hypoplasia of teeth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04771", "question": "What is associated with Vertical orbital dystopia?", "seeds": [ "Vertical orbital dystopia" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04772", "question": "What is associated with Gemination?", "seeds": [ "Gemination" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04773", "question": "What is associated with Short stature, microcephaly, and endocrine dysfunction?", "seeds": [ "Short stature, microcephaly, and endocrine dysfunction" ], "gold_answer": "Aplasia/hypoplasia involving the skeleton", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04774", "question": "What is associated with Paraproteinemia?", "seeds": [ "Paraproteinemia" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04775", "question": "What is associated with Dorsal forearm pain?", "seeds": [ "Dorsal forearm pain" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04776", "question": "What is associated with Plaque-like facial hemangioma?", "seeds": [ "Plaque-like facial hemangioma" ], "gold_answer": "Facial hemangioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04777", "question": "What is associated with Decreased hepatic echogenicity?", "seeds": [ "Decreased hepatic echogenicity" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04778", "question": "What is associated with Positive respiratory tract infectious agent test?", "seeds": [ "Positive respiratory tract infectious agent test" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04779", "question": "What is associated with Bloodstream antifungal antibody positivity?", "seeds": [ "Bloodstream antifungal antibody positivity" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04780", "question": "What is associated with Dorsal flexion contracture of the ankle?", "seeds": [ "Dorsal flexion contracture of the ankle" ], "gold_answer": "Abnormality of the ankle", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04781", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 55?", "seeds": [ "Epileptic encephalopathy, early infantile, 55" ], "gold_answer": "Absent speech", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04782", "question": "What is associated with Charcot-Marie-Tooth disease, X-linked recessive, 2?", "seeds": [ "Charcot-Marie-Tooth disease, X-linked recessive, 2" ], "gold_answer": "Abnormal nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04783", "question": "What is associated with Fluctuance on palpation?", "seeds": [ "Fluctuance on palpation" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04784", "question": "What is associated with Bent bone dysplasia syndrome 2?", "seeds": [ "Bent bone dysplasia syndrome 2" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04785", "question": "What is associated with Progressive macrocephaly?", "seeds": [ "Progressive macrocephaly" ], "gold_answer": "Macrocephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04786", "question": "What phenotype is associated with Imperforate oropharynx-costovertebral anomalies syndrome?", "seeds": [ "Imperforate oropharynx-costovertebral anomalies syndrome" ], "gold_answer": "Subglottic stenosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04787", "question": "What phenotype is associated with Coxoauricular syndrome?", "seeds": [ "Coxoauricular syndrome" ], "gold_answer": "Abnormality of the urinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04788", "question": "What is associated with Leukoencephalopathy, progressive, infantile-onset, with or without deafness?", "seeds": [ "Leukoencephalopathy, progressive, infantile-onset, with or without deafness" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04789", "question": "What is associated with Parotidomegaly, hereditary bilateral?", "seeds": [ "Parotidomegaly, hereditary bilateral" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04790", "question": "What is associated with Abnormal liver enzyme activity or concentration?", "seeds": [ "Abnormal liver enzyme activity or concentration" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04791", "question": "What is associated with Spurs of radial diaphysis?", "seeds": [ "Spurs of radial diaphysis" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04792", "question": "What is associated with Roifman syndrome?", "seeds": [ "Roifman syndrome" ], "gold_answer": "Abnormal ventricular septum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04793", "question": "What is associated with Duplication of the proximal phalanx of the 2nd toe?", "seeds": [ "Duplication of the proximal phalanx of the 2nd toe" ], "gold_answer": "Abnormal 2nd toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04794", "question": "What is associated with Mild postnatal growth retardation?", "seeds": [ "Mild postnatal growth retardation" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04795", "question": "What is associated with Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete?", "seeds": [ "Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" ], "gold_answer": "Abnormality of adrenal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04796", "question": "What is associated with Osteochondral lesion of talus?", "seeds": [ "Osteochondral lesion of talus" ], "gold_answer": "Abnormality of the tarsal bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04797", "question": "What is associated with Enlarged epiphysis of the distal phalanx of the 5th toe?", "seeds": [ "Enlarged epiphysis of the distal phalanx of the 5th toe" ], "gold_answer": "Abnormality of the epiphysis of the distal phalanx of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04798", "question": "What is associated with Autosomal dominant neovascular inflammatory vitreoretinopathy?", "seeds": [ "Autosomal dominant neovascular inflammatory vitreoretinopathy" ], "gold_answer": "CAPN5", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04799", "question": "What is associated with Arcuate artery intima/media arteriitis?", "seeds": [ "Arcuate artery intima/media arteriitis" ], "gold_answer": "Abnormal intrarenal artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04800", "question": "What is associated with Decreased level of histidine-rich glycoprotein?", "seeds": [ "Decreased level of histidine-rich glycoprotein" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04801", "question": "What is associated with Cytoplasmic antineutrophil antibody positivity?", "seeds": [ "Cytoplasmic antineutrophil antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04802", "question": "What phenotype is associated with Isolated proximal femoral focal deficiency?", "seeds": [ "Isolated proximal femoral focal deficiency" ], "gold_answer": "Aplasia/hypoplasia of the femur", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04803", "question": "What is associated with Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies?", "seeds": [ "Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies" ], "gold_answer": "Increased blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04804", "question": "What phenotype is associated with Neutropenia, nonimmune chronic idiopathic, of adults?", "seeds": [ "Neutropenia, nonimmune chronic idiopathic, of adults" ], "gold_answer": "Decreased total neutrophil count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04805", "question": "What is associated with Neoplasm?", "seeds": [ "Neoplasm" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04806", "question": "What is associated with Focal cortical dysplasia type IIa?", "seeds": [ "Focal cortical dysplasia type IIa" ], "gold_answer": "Cortical dysplasia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04807", "question": "What is associated with Triglyceride storage disease, type II?", "seeds": [ "Triglyceride storage disease, type II" ], "gold_answer": "Increased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04808", "question": "What is associated with Spinocerebellar ataxia type 42?", "seeds": [ "Spinocerebellar ataxia type 42" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04809", "question": "What is associated with Decreased maximal oxygen uptake?", "seeds": [ "Decreased maximal oxygen uptake" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04810", "question": "What is associated with Vitreous haze?", "seeds": [ "Vitreous haze" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04811", "question": "What phenotype is associated with Myotonia, potassium-aggravated?", "seeds": [ "Myotonia, potassium-aggravated" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04812", "question": "What is associated with Abnormal B cell physiology?", "seeds": [ "Abnormal B cell physiology" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04813", "question": "What is associated with Abnormal atrioventricular conduction?", "seeds": [ "Abnormal atrioventricular conduction" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04814", "question": "What is associated with Pyriform aperture stenosis?", "seeds": [ "Pyriform aperture stenosis" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04815", "question": "What is associated with Positive synovial fluid alpha-defensin?", "seeds": [ "Positive synovial fluid alpha-defensin" ], "gold_answer": "Positive synonvial fluid infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04816", "question": "What is associated with Thyroid cancer, nonmedullary, 5?", "seeds": [ "Thyroid cancer, nonmedullary, 5" ], "gold_answer": "Thyroid carcinoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04817", "question": "What is associated with Abnormal muscle tissue enzyme activity or level?", "seeds": [ "Abnormal muscle tissue enzyme activity or level" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04818", "question": "What is associated with Prolonged bleeding after surgery?", "seeds": [ "Prolonged bleeding after surgery" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04819", "question": "What phenotype is associated with Leg, absence deformity of, with congenital cataract?", "seeds": [ "Leg, absence deformity of, with congenital cataract" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04820", "question": "What is associated with Fatty streak?", "seeds": [ "Fatty streak" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04821", "question": "What is associated with Pleuritic chest pain?", "seeds": [ "Pleuritic chest pain" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04822", "question": "What is associated with Chronic monilial nail infection?", "seeds": [ "Chronic monilial nail infection" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04823", "question": "What is associated with Ivory epiphysis of the middle phalanx of the 2nd finger?", "seeds": [ "Ivory epiphysis of the middle phalanx of the 2nd finger" ], "gold_answer": "Sclerosis of finger phalanx", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04824", "question": "What is associated with Short syndrome?", "seeds": [ "Short syndrome" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04825", "question": "What is associated with Cataract 1, multiple types?", "seeds": [ "Cataract 1, multiple types" ], "gold_answer": "CRYBB1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04826", "question": "What is associated with Osteolytic defects of the middle phalanges of the hand?", "seeds": [ "Osteolytic defects of the middle phalanges of the hand" ], "gold_answer": "Osteolysis involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04827", "question": "What is associated with 2nd-5th toe middle phalangeal hypoplasia?", "seeds": [ "2nd-5th toe middle phalangeal hypoplasia" ], "gold_answer": "Short digit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04828", "question": "What is associated with Diabetes insipidus, nephrogenic, 2?", "seeds": [ "Diabetes insipidus, nephrogenic, 2" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04829", "question": "What phenotype is associated with Cataract 44?", "seeds": [ "Cataract 44" ], "gold_answer": "Developmental cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04830", "question": "What is associated with Mitochondrial complex II deficiency?", "seeds": [ "Mitochondrial complex II deficiency" ], "gold_answer": "MYBPC3", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "candidate_gene_tested_in" } }, { "query_id": "orph_train_04831", "question": "What is associated with Ataxia-Oculomotor apraxia 3?", "seeds": [ "Ataxia-Oculomotor apraxia 3" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04832", "question": "What is associated with Intercrural pterygium?", "seeds": [ "Intercrural pterygium" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04833", "question": "What is associated with Almond-shaped palpebral fissure?", "seeds": [ "Almond-shaped palpebral fissure" ], "gold_answer": "Abnormal shape of the palpebral fissure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04834", "question": "What is associated with Bronchial artery dilatation?", "seeds": [ "Bronchial artery dilatation" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04835", "question": "What is associated with Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive?", "seeds": [ "Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04836", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 16?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 16" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04837", "question": "What is associated with Encephalopathy due to sulfite oxidase deficiency?", "seeds": [ "Encephalopathy due to sulfite oxidase deficiency" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04838", "question": "What is associated with Duplication of the upper lip?", "seeds": [ "Duplication of the upper lip" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04839", "question": "What is associated with Thyrotoxicosis from ectopic thyroid tissue?", "seeds": [ "Thyrotoxicosis from ectopic thyroid tissue" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04840", "question": "What is associated with Hyperpigmented nodule?", "seeds": [ "Hyperpigmented nodule" ], "gold_answer": "Skin nodule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04841", "question": "What is associated with Incyclophoria?", "seeds": [ "Incyclophoria" ], "gold_answer": "Cyclodeviation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04842", "question": "What is associated with Reduced circulating 6-pyruvoyltetrahydropterin synthase activity?", "seeds": [ "Reduced circulating 6-pyruvoyltetrahydropterin synthase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04843", "question": "What is associated with Dry hair?", "seeds": [ "Dry hair" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04844", "question": "What is associated with Poorly formed metencephalon?", "seeds": [ "Poorly formed metencephalon" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04845", "question": "What is associated with Retinal astrocytic hamartoma?", "seeds": [ "Retinal astrocytic hamartoma" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04846", "question": "What is associated with Laryngeal cartilage malformation?", "seeds": [ "Laryngeal cartilage malformation" ], "gold_answer": "Abnormal larynx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04847", "question": "What is associated with Vascular hamartoma?", "seeds": [ "Vascular hamartoma" ], "gold_answer": "Hamartoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04848", "question": "What is associated with Infantile liver failure syndrome 3?", "seeds": [ "Infantile liver failure syndrome 3" ], "gold_answer": "Abnormal hip joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04849", "question": "What phenotype is associated with Bronchogenic cyst?", "seeds": [ "Bronchogenic cyst" ], "gold_answer": "Neck pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04850", "question": "What is associated with Cerebroretinal microangiopathy with calcifications and cysts 1?", "seeds": [ "Cerebroretinal microangiopathy with calcifications and cysts 1" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04851", "question": "What is associated with Ameliorated by ethanol ingestion?", "seeds": [ "Ameliorated by ethanol ingestion" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04852", "question": "What phenotype is associated with Distichiasis with congenital anomalies of the heart and peripheral?", "seeds": [ "Distichiasis with congenital anomalies of the heart and peripheral" ], "gold_answer": "Peripheral arterial stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04853", "question": "What is associated with Neurofacioskeletal syndrome with or without renal agenesis?", "seeds": [ "Neurofacioskeletal syndrome with or without renal agenesis" ], "gold_answer": "Thin vermilion border", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04854", "question": "What is associated with Facial expressions not directed to others?", "seeds": [ "Facial expressions not directed to others" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04855", "question": "What is associated with ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion?", "seeds": [ "ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion" ], "gold_answer": "ZMYND11", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "role_in_the_phenotype_of" } }, { "query_id": "orph_train_04856", "question": "What is associated with Impaired neutrophil chemotaxis?", "seeds": [ "Impaired neutrophil chemotaxis" ], "gold_answer": "Reduction of neutrophil motility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04857", "question": "What is associated with X-linked dystonia-parkinsonism?", "seeds": [ "X-linked dystonia-parkinsonism" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04858", "question": "What is associated with Hypovolemia?", "seeds": [ "Hypovolemia" ], "gold_answer": "Abnormality of blood circulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04859", "question": "What phenotype is associated with GONADOBLASTOMA?", "seeds": [ "GONADOBLASTOMA" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04860", "question": "What is associated with Congenital malformation of the great arteries?", "seeds": [ "Congenital malformation of the great arteries" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04861", "question": "What is associated with Pili torti-onychodysplasia syndrome?", "seeds": [ "Pili torti-onychodysplasia syndrome" ], "gold_answer": "Atypical scarring of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04862", "question": "What is associated with 4-5 finger cutaneous syndactyly?", "seeds": [ "4-5 finger cutaneous syndactyly" ], "gold_answer": "Cutaneous finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04863", "question": "What phenotype is associated with Seborrhea-Like dermatitis with psoriasiform elements?", "seeds": [ "Seborrhea-Like dermatitis with psoriasiform elements" ], "gold_answer": "Keratosis pilaris", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04864", "question": "What is associated with Cone-shaped epiphysis of the distal phalanx of the 5th finger?", "seeds": [ "Cone-shaped epiphysis of the distal phalanx of the 5th finger" ], "gold_answer": "Abnormality of the distal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04865", "question": "What is associated with Dysbetalipoproteinemia?", "seeds": [ "Dysbetalipoproteinemia" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04866", "question": "What is associated with Deafness, autosomal dominant 40?", "seeds": [ "Deafness, autosomal dominant 40" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04867", "question": "What is associated with Long hallux?", "seeds": [ "Long hallux" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04868", "question": "What is associated with Camptodactyly of finger?", "seeds": [ "Camptodactyly of finger" ], "gold_answer": "Flexion contracture of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04869", "question": "What is associated with Absent axon flare response after intradermal histamine injection?", "seeds": [ "Absent axon flare response after intradermal histamine injection" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04870", "question": "What is associated with Anemia, hypochromic microcytic, with iron overload 1?", "seeds": [ "Anemia, hypochromic microcytic, with iron overload 1" ], "gold_answer": "Abnormal number of erythroid precursors", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04871", "question": "What is associated with Increased heart rate variability?", "seeds": [ "Increased heart rate variability" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04872", "question": "What is associated with Craniometadiaphyseal dysplasia?", "seeds": [ "Craniometadiaphyseal dysplasia" ], "gold_answer": "Increased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04873", "question": "What is associated with Autosomal recessive spastic paraplegia type 43?", "seeds": [ "Autosomal recessive spastic paraplegia type 43" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04874", "question": "What is associated with Short proximal phalanx of finger?", "seeds": [ "Short proximal phalanx of finger" ], "gold_answer": "Aplasia/hypoplasia involving bones of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04875", "question": "What is associated with Leukodystrophy?", "seeds": [ "Leukodystrophy" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04876", "question": "What is associated with Costovertebral angle tenderness?", "seeds": [ "Costovertebral angle tenderness" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04877", "question": "What phenotype is associated with Episodic pain syndrome, familial, 2?", "seeds": [ "Episodic pain syndrome, familial, 2" ], "gold_answer": "Dysesthesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04878", "question": "What is associated with Myelopathy?", "seeds": [ "Myelopathy" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04879", "question": "What is associated with Tuberous xanthoma?", "seeds": [ "Tuberous xanthoma" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04880", "question": "What phenotype is associated with Infantile Krabbe disease?", "seeds": [ "Infantile Krabbe disease" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04881", "question": "What is associated with Cone-shaped epiphyses of the hallux?", "seeds": [ "Cone-shaped epiphyses of the hallux" ], "gold_answer": "Abnormality of the epiphyses of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04882", "question": "What is associated with Increased level of 3-hydroxy-3-methylglutaric acid in urine?", "seeds": [ "Increased level of 3-hydroxy-3-methylglutaric acid in urine" ], "gold_answer": "Abnormal urine carboxylic acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04883", "question": "What is associated with Reduced tissue aspartylglucosaminidase activity?", "seeds": [ "Reduced tissue aspartylglucosaminidase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04884", "question": "What is associated with Spermatogenic failure 1?", "seeds": [ "Spermatogenic failure 1" ], "gold_answer": "Infertility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04885", "question": "What is associated with Abnormality of lower eyelashes?", "seeds": [ "Abnormality of lower eyelashes" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04886", "question": "What is associated with Nocturnal hypoventilation?", "seeds": [ "Nocturnal hypoventilation" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04887", "question": "What is associated with Scleritis?", "seeds": [ "Scleritis" ], "gold_answer": "Inflammatory abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04888", "question": "What is associated with Elevated urine 3-hydroxypropionic acid level?", "seeds": [ "Elevated urine 3-hydroxypropionic acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04889", "question": "What phenotype is associated with Aromatase deficiency?", "seeds": [ "Aromatase deficiency" ], "gold_answer": "Hepatic steatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04890", "question": "What phenotype is associated with Deafness, autosomal dominant 80?", "seeds": [ "Deafness, autosomal dominant 80" ], "gold_answer": "Abnormal semicircular canal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04891", "question": "What is associated with Coloboma of choroid and retina?", "seeds": [ "Coloboma of choroid and retina" ], "gold_answer": "ABCB6", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04892", "question": "What is associated with 1p36 deletion syndrome?", "seeds": [ "1p36 deletion syndrome" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04893", "question": "What is associated with Abnormal breast physiology?", "seeds": [ "Abnormal breast physiology" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04894", "question": "What is associated with Arcuate artery endoarterial foam cell hypercellularity?", "seeds": [ "Arcuate artery endoarterial foam cell hypercellularity" ], "gold_answer": "Abnormal arcuate artery endothelium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04895", "question": "What is associated with Exposure to repetitive hand impact?", "seeds": [ "Exposure to repetitive hand impact" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04896", "question": "What phenotype is associated with ACTH-independent macronodular adrenal hyperplasia 2?", "seeds": [ "ACTH-independent macronodular adrenal hyperplasia 2" ], "gold_answer": "Hyperglycemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04897", "question": "What is associated with Rickets?", "seeds": [ "Rickets" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04898", "question": "What is associated with Orthostatic hypotension?", "seeds": [ "Orthostatic hypotension" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04899", "question": "What phenotype is associated with Felty syndrome?", "seeds": [ "Felty syndrome" ], "gold_answer": "Peripheral neuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04900", "question": "What is associated with Renal tubular epithelial cell swelling?", "seeds": [ "Renal tubular epithelial cell swelling" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04901", "question": "What is associated with Osteogenesis imperfecta, type IX?", "seeds": [ "Osteogenesis imperfecta, type IX" ], "gold_answer": "Abnormality of primary teeth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04902", "question": "What is associated with Small bowel atresia?", "seeds": [ "Small bowel atresia" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04903", "question": "What is associated with Elevated vascular endothelial growth factor level?", "seeds": [ "Elevated vascular endothelial growth factor level" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04904", "question": "What is associated with Broad nail?", "seeds": [ "Broad nail" ], "gold_answer": "Nail dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04905", "question": "What is associated with Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies?", "seeds": [ "Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04906", "question": "What is associated with Intellectual developmental disorder, X-linked 91?", "seeds": [ "Intellectual developmental disorder, X-linked 91" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04907", "question": "What is associated with Deafness, neurosensory, autosomal recessive 42?", "seeds": [ "Deafness, neurosensory, autosomal recessive 42" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04908", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 12?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 12" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04909", "question": "What is associated with Reduced granulocyte CD16 level?", "seeds": [ "Reduced granulocyte CD16 level" ], "gold_answer": "Abnormal flow cytometry test result", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04910", "question": "What is associated with Anti-phosphatidyl serine antibody positivity?", "seeds": [ "Anti-phosphatidyl serine antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04911", "question": "What is associated with Abnormal peripheral nerve morphology by anatomical site?", "seeds": [ "Abnormal peripheral nerve morphology by anatomical site" ], "gold_answer": "Abnormal peripheral nervous system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04912", "question": "What is associated with Abnormal fetal pulmonary morphology?", "seeds": [ "Abnormal fetal pulmonary morphology" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04913", "question": "What phenotype is associated with Primary ciliary dyskinesia?", "seeds": [ "Primary ciliary dyskinesia" ], "gold_answer": "Conductive hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04914", "question": "What is associated with Stomatocytosis?", "seeds": [ "Stomatocytosis" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04915", "question": "What is associated with Deafness, autosomal recessive 28?", "seeds": [ "Deafness, autosomal recessive 28" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04916", "question": "What is associated with Increased total granulocyte count?", "seeds": [ "Increased total granulocyte count" ], "gold_answer": "Abnormal leukocyte count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04917", "question": "What is associated with Scaling skin on fingertip?", "seeds": [ "Scaling skin on fingertip" ], "gold_answer": "Scaling skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04918", "question": "What is associated with Cervical spinal canal stenosis?", "seeds": [ "Cervical spinal canal stenosis" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04919", "question": "What is associated with Deafness with labyrinthine aplasia, microtia, and microdontia?", "seeds": [ "Deafness with labyrinthine aplasia, microtia, and microdontia" ], "gold_answer": "Aplasia/Hypoplasia of the external ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04920", "question": "What is associated with Flaujeac factor deficiency?", "seeds": [ "Flaujeac factor deficiency" ], "gold_answer": "Abnormality of the intrinsic pathway", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04921", "question": "What is associated with Spondylitis?", "seeds": [ "Spondylitis" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04922", "question": "What is associated with Chronic decreased circulating IgG2?", "seeds": [ "Chronic decreased circulating IgG2" ], "gold_answer": "Decreased circulating IgG subclass concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04923", "question": "What is associated with Transitional cell carcinoma of the bladder?", "seeds": [ "Transitional cell carcinoma of the bladder" ], "gold_answer": "Urinary tract neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04924", "question": "What phenotype is associated with Developmental delay, impaired speech, and behavioral abnormalities?", "seeds": [ "Developmental delay, impaired speech, and behavioral abnormalities" ], "gold_answer": "Spinal neurofibromas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04925", "question": "What is associated with Arterial fibromuscular dysplasia?", "seeds": [ "Arterial fibromuscular dysplasia" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04926", "question": "What is associated with Renal cortical adenoma?", "seeds": [ "Renal cortical adenoma" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04927", "question": "What is associated with Porphyria, congenital erythropoietic?", "seeds": [ "Porphyria, congenital erythropoietic" ], "gold_answer": "Abnormality of dental color", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04928", "question": "What is associated with Combined oxidative phosphorylation deficiency 23?", "seeds": [ "Combined oxidative phosphorylation deficiency 23" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04929", "question": "What is associated with Zimmermann-Laband syndrome 1?", "seeds": [ "Zimmermann-Laband syndrome 1" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04930", "question": "What is associated with Focal emotional seizure with paranoia?", "seeds": [ "Focal emotional seizure with paranoia" ], "gold_answer": "Non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04931", "question": "What is associated with Partial duplication of the distal phalanx of the 2nd toe?", "seeds": [ "Partial duplication of the distal phalanx of the 2nd toe" ], "gold_answer": "Duplication of the distal phalanx of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04932", "question": "What is associated with Pseudoarthrosis?", "seeds": [ "Pseudoarthrosis" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04933", "question": "What is associated with Anterior segment dysgenesis 5, multiple subtypes?", "seeds": [ "Anterior segment dysgenesis 5, multiple subtypes" ], "gold_answer": "Abnormal anterior chamber morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04934", "question": "What is associated with Abnormality of chromosome stability?", "seeds": [ "Abnormality of chromosome stability" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04935", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 3?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 3" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04936", "question": "What is associated with Chordoma?", "seeds": [ "Chordoma" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04937", "question": "What phenotype is associated with Lipoid congenital adrenal hyperplasia?", "seeds": [ "Lipoid congenital adrenal hyperplasia" ], "gold_answer": "Hypospadias", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04938", "question": "What phenotype is associated with Monosomy 18q syndrome?", "seeds": [ "Monosomy 18q syndrome" ], "gold_answer": "Myopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04939", "question": "What is associated with Accumulation of muscle fiber myotilin?", "seeds": [ "Accumulation of muscle fiber myotilin" ], "gold_answer": "Abnormal muscle fiber myotilin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04940", "question": "What is associated with Increased blood pressure?", "seeds": [ "Increased blood pressure" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04941", "question": "What is associated with Small epiphyses of the 3rd toe?", "seeds": [ "Small epiphyses of the 3rd toe" ], "gold_answer": "Abnormality of the epiphyses of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04942", "question": "What is associated with Angelman syndrome due to imprinting defect in 15q11-q13?", "seeds": [ "Angelman syndrome due to imprinting defect in 15q11-q13" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04943", "question": "What is associated with Impaired vibratory sensation?", "seeds": [ "Impaired vibratory sensation" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04944", "question": "What is associated with Mesomelic/rhizomelic limb shortening?", "seeds": [ "Mesomelic/rhizomelic limb shortening" ], "gold_answer": "Rhizomelia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04945", "question": "What is associated with Neonatal short-limb short stature?", "seeds": [ "Neonatal short-limb short stature" ], "gold_answer": "Disproportionate short-limb short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04946", "question": "What is associated with Gelatinous drop-like dystrophic cornea?", "seeds": [ "Gelatinous drop-like dystrophic cornea" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04947", "question": "What is associated with Back pain?", "seeds": [ "Back pain" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04948", "question": "What is associated with Complete duplication of the middle phalanx of the 3rd toe?", "seeds": [ "Complete duplication of the middle phalanx of the 3rd toe" ], "gold_answer": "Duplication of phalanx of toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04949", "question": "What is associated with Lactescent serum?", "seeds": [ "Lactescent serum" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04950", "question": "What is associated with Diaphanospondylodysostosis?", "seeds": [ "Diaphanospondylodysostosis" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04951", "question": "What is associated with Sensorimotor polyneuropathy affecting arms more than legs?", "seeds": [ "Sensorimotor polyneuropathy affecting arms more than legs" ], "gold_answer": "Peripheral neuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04952", "question": "What is associated with Eyelid myokymia?", "seeds": [ "Eyelid myokymia" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04953", "question": "What is associated with Bone cyst?", "seeds": [ "Bone cyst" ], "gold_answer": "Abnormal bone structure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04954", "question": "What is associated with Hip dysplasia, Beukes type?", "seeds": [ "Hip dysplasia, Beukes type" ], "gold_answer": "Wide femoral metaphysis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04955", "question": "What is associated with Delayed scintigraphic gallbladder filling?", "seeds": [ "Delayed scintigraphic gallbladder filling" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04956", "question": "What is associated with Long foot?", "seeds": [ "Long foot" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04957", "question": "What is associated with Postexertional symptom exacerbation?", "seeds": [ "Postexertional symptom exacerbation" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04958", "question": "What is associated with Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome?", "seeds": [ "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04959", "question": "What is associated with Short middle phalanx of the 2nd finger?", "seeds": [ "Short middle phalanx of the 2nd finger" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04960", "question": "What is associated with Sparse eyelashes?", "seeds": [ "Sparse eyelashes" ], "gold_answer": "Sparse or absent eyelashes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04961", "question": "What is associated with Rete ridge flattening?", "seeds": [ "Rete ridge flattening" ], "gold_answer": "Abnormal epidermal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04962", "question": "What is associated with Mitochondrial hypertrophy?", "seeds": [ "Mitochondrial hypertrophy" ], "gold_answer": "Abnormality of the mitochondrion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04963", "question": "What is associated with Weak anal sphincter tone?", "seeds": [ "Weak anal sphincter tone" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04964", "question": "What is associated with Finely dispersed lymph node lymphocyte chromatin?", "seeds": [ "Finely dispersed lymph node lymphocyte chromatin" ], "gold_answer": "Abnormal lymph-node lymphoctye nuclear morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04965", "question": "What is associated with Congenital disorder of deglycosylation 2?", "seeds": [ "Congenital disorder of deglycosylation 2" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04966", "question": "What is associated with Cholestasis, intrahepatic, of pregnancy, 1?", "seeds": [ "Cholestasis, intrahepatic, of pregnancy, 1" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04967", "question": "What is associated with Neurodevelopmental disorder with seizures and joint laxity?", "seeds": [ "Neurodevelopmental disorder with seizures and joint laxity" ], "gold_answer": "Craniofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04968", "question": "What is associated with NFKB1-related immune dysregulation?", "seeds": [ "NFKB1-related immune dysregulation" ], "gold_answer": "NFKB1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04969", "question": "What is associated with Torus palatinus?", "seeds": [ "Torus palatinus" ], "gold_answer": "Abnormal hard palate morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04970", "question": "What is associated with Double inlet to single ventricle with two atrioventricular valves?", "seeds": [ "Double inlet to single ventricle with two atrioventricular valves" ], "gold_answer": "Double inlet atrioventricular connection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04971", "question": "What is associated with Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome?", "seeds": [ "Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04972", "question": "What is associated with Increased circulating interleukin 5 concentration?", "seeds": [ "Increased circulating interleukin 5 concentration" ], "gold_answer": "Abnormal immune serum protein physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04973", "question": "What is associated with Nephrotic syndrome, type 6?", "seeds": [ "Nephrotic syndrome, type 6" ], "gold_answer": "Abnormal circulating albumin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04974", "question": "What is associated with Cryptococcal meningitis?", "seeds": [ "Cryptococcal meningitis" ], "gold_answer": "Meningitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04975", "question": "What is associated with Split-Hand/foot malformation 1?", "seeds": [ "Split-Hand/foot malformation 1" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04976", "question": "What is associated with Purpura?", "seeds": [ "Purpura" ], "gold_answer": "Subcutaneous hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04977", "question": "What is associated with Increased urinary mucus?", "seeds": [ "Increased urinary mucus" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04978", "question": "What phenotype is associated with Brain-lung-thyroid syndrome?", "seeds": [ "Brain-lung-thyroid syndrome" ], "gold_answer": "Cavum septum pellucidum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04979", "question": "What is associated with Reduced sympathoneural responses to the cold pressor test?", "seeds": [ "Reduced sympathoneural responses to the cold pressor test" ], "gold_answer": "Abnormality of the autonomic nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04980", "question": "What is associated with Double inlet to single ventricle of indeterminate morphology?", "seeds": [ "Double inlet to single ventricle of indeterminate morphology" ], "gold_answer": "Single ventricle", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04981", "question": "What is associated with Broad phalanges of the 4th finger?", "seeds": [ "Broad phalanges of the 4th finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04982", "question": "What is associated with Autosomal dominant Charcot-Marie-Tooth disease type 2O?", "seeds": [ "Autosomal dominant Charcot-Marie-Tooth disease type 2O" ], "gold_answer": "DYNC1H1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_04983", "question": "What phenotype is associated with Deafness, autosomal recessive 88?", "seeds": [ "Deafness, autosomal recessive 88" ], "gold_answer": "Mixed hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04984", "question": "What is associated with Contracture of the distal interphalangeal joint of the 2nd toe?", "seeds": [ "Contracture of the distal interphalangeal joint of the 2nd toe" ], "gold_answer": "Flexion contracture of digit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04985", "question": "What is associated with Coxa magna?", "seeds": [ "Coxa magna" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04986", "question": "What is associated with Flexion contracture of the 4th toe?", "seeds": [ "Flexion contracture of the 4th toe" ], "gold_answer": "Flexion contracture of toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04987", "question": "What is associated with Impulsivity?", "seeds": [ "Impulsivity" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04988", "question": "What is associated with Abnormal CSF carboxylic acid concentration?", "seeds": [ "Abnormal CSF carboxylic acid concentration" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04989", "question": "What is associated with Mesomelic dwarfism-cleft palate-camptodactyly syndrome?", "seeds": [ "Mesomelic dwarfism-cleft palate-camptodactyly syndrome" ], "gold_answer": "Joint dislocation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04990", "question": "What is associated with Abnormal circulating aldosterone concentration?", "seeds": [ "Abnormal circulating aldosterone concentration" ], "gold_answer": "Abnormality of renin-angiotensin system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_04991", "question": "What is associated with Abnormal circulating retinol-binding protein concentration?", "seeds": [ "Abnormal circulating retinol-binding protein concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04992", "question": "What is associated with Anterior basal encephalocele?", "seeds": [ "Anterior basal encephalocele" ], "gold_answer": "Open neural tube defect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04993", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 26?", "seeds": [ "Autosomal recessive spastic paraplegia type 26" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_04994", "question": "What is associated with Multinucleated giant chondrocytes in epiphyseal cartilage?", "seeds": [ "Multinucleated giant chondrocytes in epiphyseal cartilage" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04995", "question": "What is associated with Alport syndrome?", "seeds": [ "Alport syndrome" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04996", "question": "What is associated with Short columella?", "seeds": [ "Short columella" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04997", "question": "What is associated with Iris hypoperfusion?", "seeds": [ "Iris hypoperfusion" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_04998", "question": "What is associated with Spermatogenic failure 39?", "seeds": [ "Spermatogenic failure 39" ], "gold_answer": "Abnormal sperm physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_04999", "question": "What is associated with Mesangial cell loss?", "seeds": [ "Mesangial cell loss" ], "gold_answer": "Abnormal glomerular mesangium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05000", "question": "What is associated with Vitreomacular adhesion?", "seeds": [ "Vitreomacular adhesion" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05001", "question": "What is associated with Cortical radial artery intima/media liquefactive necrosis?", "seeds": [ "Cortical radial artery intima/media liquefactive necrosis" ], "gold_answer": "Abnormal cortical radial artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05002", "question": "What is associated with Pain at the lateral aspect of the knee?", "seeds": [ "Pain at the lateral aspect of the knee" ], "gold_answer": "Limb pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05003", "question": "What is associated with Abnormal CSF alpha-aminobutyrate concentration?", "seeds": [ "Abnormal CSF alpha-aminobutyrate concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05004", "question": "What is associated with Radial bowing?", "seeds": [ "Radial bowing" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05005", "question": "What is associated with Craniosynostosis 2?", "seeds": [ "Craniosynostosis 2" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05006", "question": "What is associated with Comedonal acne?", "seeds": [ "Comedonal acne" ], "gold_answer": "Acne", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05007", "question": "What phenotype is associated with Optic atrophy 3, autosomal dominant?", "seeds": [ "Optic atrophy 3, autosomal dominant" ], "gold_answer": "Optic disc pallor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05008", "question": "What phenotype is associated with HEC syndrome?", "seeds": [ "HEC syndrome" ], "gold_answer": "Congestive heart failure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05009", "question": "What is associated with Midline central nervous system lipomas?", "seeds": [ "Midline central nervous system lipomas" ], "gold_answer": "Multiple central nervous system lipomas", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05010", "question": "What is associated with Translamellar aortic medial fibrosis?", "seeds": [ "Translamellar aortic medial fibrosis" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05011", "question": "What is associated with Reduced granulocyte CD18 level?", "seeds": [ "Reduced granulocyte CD18 level" ], "gold_answer": "Reduced cell surface marker level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05012", "question": "What is associated with Fractured proximal phalanx of digit 4?", "seeds": [ "Fractured proximal phalanx of digit 4" ], "gold_answer": "Long-bone fracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05013", "question": "What is associated with Abnormal circulating potassium concentration?", "seeds": [ "Abnormal circulating potassium concentration" ], "gold_answer": "Abnormal blood ion concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05014", "question": "What is associated with Impaired horizontal smooth pursuit?", "seeds": [ "Impaired horizontal smooth pursuit" ], "gold_answer": "Abnormality of ocular smooth pursuit", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05015", "question": "What is associated with Macrocytic dyserythropoietic anemia?", "seeds": [ "Macrocytic dyserythropoietic anemia" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05016", "question": "What is associated with Calciphylaxis?", "seeds": [ "Calciphylaxis" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05017", "question": "What is associated with Complete atrioventricular septal defect?", "seeds": [ "Complete atrioventricular septal defect" ], "gold_answer": "Cardiac conduction abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05018", "question": "What is associated with Autophagic vacuoles?", "seeds": [ "Autophagic vacuoles" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05019", "question": "What phenotype is associated with Spermatogenic failure 11?", "seeds": [ "Spermatogenic failure 11" ], "gold_answer": "Oligozoospermia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05020", "question": "What is associated with Dravet syndrome?", "seeds": [ "Dravet syndrome" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05021", "question": "What is associated with Aortic aneurysm, familial thoracic 8?", "seeds": [ "Aortic aneurysm, familial thoracic 8" ], "gold_answer": "Abnormal coronary artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05022", "question": "What is associated with Pulmonary hyperplasia?", "seeds": [ "Pulmonary hyperplasia" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05023", "question": "What is associated with Monilethrix 3?", "seeds": [ "Monilethrix 3" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05024", "question": "What phenotype is associated with Nephrolithiasis, calcium oxalate?", "seeds": [ "Nephrolithiasis, calcium oxalate" ], "gold_answer": "Acute kidney injury", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05025", "question": "What phenotype is associated with Spastic paraplegia 42, autosomal dominant?", "seeds": [ "Spastic paraplegia 42, autosomal dominant" ], "gold_answer": "Spastic paraplegia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05026", "question": "What is associated with Subcortical localization?", "seeds": [ "Subcortical localization" ], "gold_answer": "Brain localization", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05027", "question": "What is associated with Prolonged QTc interval?", "seeds": [ "Prolonged QTc interval" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05028", "question": "What is associated with Intellectual developmental disorder with severe speech and ambulation defects?", "seeds": [ "Intellectual developmental disorder with severe speech and ambulation defects" ], "gold_answer": "Epileptic spasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05029", "question": "What is associated with Abnormality of the spleen?", "seeds": [ "Abnormality of the spleen" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05030", "question": "What is associated with Abnormal urine sebacic acid concentration?", "seeds": [ "Abnormal urine sebacic acid concentration" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05031", "question": "What is associated with Portosystemic collateral veins?", "seeds": [ "Portosystemic collateral veins" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05032", "question": "What is associated with Bracket epiphysis of the distal phalanx of the hallux?", "seeds": [ "Bracket epiphysis of the distal phalanx of the hallux" ], "gold_answer": "Bracket epiphyses of the hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05033", "question": "What is associated with Intellectual developmental disorder with autism and speech delay?", "seeds": [ "Intellectual developmental disorder with autism and speech delay" ], "gold_answer": "Autistic behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05034", "question": "What is associated with Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant?", "seeds": [ "Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05035", "question": "What is associated with Acquired abnormal hair pattern?", "seeds": [ "Acquired abnormal hair pattern" ], "gold_answer": "Abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05036", "question": "What is associated with Hordeolum externum?", "seeds": [ "Hordeolum externum" ], "gold_answer": "Nodular changes affecting the eyelids", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05037", "question": "What is associated with Foveal photoreceptor outer segment loss on macular OCT?", "seeds": [ "Foveal photoreceptor outer segment loss on macular OCT" ], "gold_answer": "Abnormal optical coherence tomography", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05038", "question": "What is associated with Mandibuloacral dysplasia progeroid syndrome?", "seeds": [ "Mandibuloacral dysplasia progeroid syndrome" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05039", "question": "What is associated with Long QT syndrome 6?", "seeds": [ "Long QT syndrome 6" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05040", "question": "What is associated with Paraganglioma?", "seeds": [ "Paraganglioma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05041", "question": "What is associated with Epilepsy, progressive myoclonic, 12?", "seeds": [ "Epilepsy, progressive myoclonic, 12" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05042", "question": "What is associated with Partial absence of foot?", "seeds": [ "Partial absence of foot" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05043", "question": "What is associated with Calcification of the interosseus membrane of the forearm?", "seeds": [ "Calcification of the interosseus membrane of the forearm" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05044", "question": "What is associated with Facial paresis, hereditary congenital, 2?", "seeds": [ "Facial paresis, hereditary congenital, 2" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05045", "question": "What is associated with Intellectual developmental disorder, X-linked syndromic, Christianson type?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic, Christianson type" ], "gold_answer": "Abnormal demeanor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05046", "question": "What is associated with Congenital blindness?", "seeds": [ "Congenital blindness" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05047", "question": "What is associated with Panniculitis?", "seeds": [ "Panniculitis" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05048", "question": "What is associated with 48,XXYY syndrome?", "seeds": [ "48,XXYY syndrome" ], "gold_answer": "Abnormal esophagus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05049", "question": "What is associated with Spinocerebellar ataxia 11?", "seeds": [ "Spinocerebellar ataxia 11" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05050", "question": "What is associated with Presence of uterus in 46,XY individual?", "seeds": [ "Presence of uterus in 46,XY individual" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05051", "question": "What is associated with Benign prostatic hyperplasia?", "seeds": [ "Benign prostatic hyperplasia" ], "gold_answer": "Abnormal prostate morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05052", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 69?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 69" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05053", "question": "What phenotype is associated with Leopard syndrome 1?", "seeds": [ "Leopard syndrome 1" ], "gold_answer": "Ureteral agenesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05054", "question": "What is associated with Limited extraocular movements?", "seeds": [ "Limited extraocular movements" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05055", "question": "What is associated with Infantile liver failure syndrome 1?", "seeds": [ "Infantile liver failure syndrome 1" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05056", "question": "What is associated with Advance sleep phase syndrome, familial, 4?", "seeds": [ "Advance sleep phase syndrome, familial, 4" ], "gold_answer": "Sleep-wake cycle disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05057", "question": "What is associated with Pseudoepiphysis of the distal phalanx of the hallux?", "seeds": [ "Pseudoepiphysis of the distal phalanx of the hallux" ], "gold_answer": "Pseudoepiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05058", "question": "What is associated with Aortic annulus calcification?", "seeds": [ "Aortic annulus calcification" ], "gold_answer": "Cardiac valve calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05059", "question": "What is associated with Basal cell nevus syndrome 2?", "seeds": [ "Basal cell nevus syndrome 2" ], "gold_answer": "Fibrous tissue neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05060", "question": "What is associated with Echolalia?", "seeds": [ "Echolalia" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05061", "question": "What phenotype is associated with Epidermolysis bullosa simplex, Weber-Cockayne type?", "seeds": [ "Epidermolysis bullosa simplex, Weber-Cockayne type" ], "gold_answer": "Palmoplantar blistering", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05062", "question": "What is associated with Freeman-Sheldon syndrome?", "seeds": [ "Freeman-Sheldon syndrome" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05063", "question": "What is associated with Developmental and epileptic encephalopathy 109?", "seeds": [ "Developmental and epileptic encephalopathy 109" ], "gold_answer": "Generalized non-motor (absence) seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05064", "question": "What phenotype is associated with Thyroid hemiagenesis?", "seeds": [ "Thyroid hemiagenesis" ], "gold_answer": "Thyroid adenoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05065", "question": "What is associated with Unilateral microphthalmos?", "seeds": [ "Unilateral microphthalmos" ], "gold_answer": "Aplasia/Hypoplasia affecting the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05066", "question": "What is associated with Rigors?", "seeds": [ "Rigors" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05067", "question": "What is associated with Abnormal fetal nasal bone visualization?", "seeds": [ "Abnormal fetal nasal bone visualization" ], "gold_answer": "Abnormal fetal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05068", "question": "What is associated with 19p13.12 microdeletion syndrome?", "seeds": [ "19p13.12 microdeletion syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05069", "question": "What is associated with Short iliac bones?", "seeds": [ "Short iliac bones" ], "gold_answer": "Abnormal hip bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05070", "question": "What is associated with Polycystic kidney disease 6 with or without polycystic liver disease?", "seeds": [ "Polycystic kidney disease 6 with or without polycystic liver disease" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05071", "question": "What is associated with Congenital abnormal hair pattern?", "seeds": [ "Congenital abnormal hair pattern" ], "gold_answer": "Abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05072", "question": "What is associated with CD5 expression?", "seeds": [ "CD5 expression" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05073", "question": "What is associated with Thrombocythemia 3?", "seeds": [ "Thrombocythemia 3" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05074", "question": "What is associated with Aplasia/hypoplasia involving the skeleton?", "seeds": [ "Aplasia/hypoplasia involving the skeleton" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05075", "question": "What is associated with Abdominal aortic aneurysm?", "seeds": [ "Abdominal aortic aneurysm" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05076", "question": "What is associated with Glomerular proteinuria?", "seeds": [ "Glomerular proteinuria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05077", "question": "What is associated with Inlet ventricular septal defect?", "seeds": [ "Inlet ventricular septal defect" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05078", "question": "What is associated with Cataract 35?", "seeds": [ "Cataract 35" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05079", "question": "What is associated with Patchy sclerosis of proximal phalanx of finger?", "seeds": [ "Patchy sclerosis of proximal phalanx of finger" ], "gold_answer": "Sclerosis of proximal phalanx of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05080", "question": "What is associated with Limited hip extension?", "seeds": [ "Limited hip extension" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05081", "question": "What is associated with Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity?", "seeds": [ "Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05082", "question": "What phenotype is associated with Hypogonadotropic hypogonadism 20 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 20 with or without anosmia" ], "gold_answer": "Delayed puberty", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05083", "question": "What is associated with Abnormal number of teeth?", "seeds": [ "Abnormal number of teeth" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05084", "question": "What is associated with Hyaloid vascular remnant and retrolental mass?", "seeds": [ "Hyaloid vascular remnant and retrolental mass" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05085", "question": "What is associated with Hyperproteinemia?", "seeds": [ "Hyperproteinemia" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05086", "question": "What is associated with Lower eyelid retraction?", "seeds": [ "Lower eyelid retraction" ], "gold_answer": "Eyelid retraction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05087", "question": "What is associated with Short distal phalanx of toe?", "seeds": [ "Short distal phalanx of toe" ], "gold_answer": "Aplasia/Hypoplasia of the distal phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05088", "question": "What is associated with Hemisacrum?", "seeds": [ "Hemisacrum" ], "gold_answer": "Sacral segmentation defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05089", "question": "What is associated with Hydroureter?", "seeds": [ "Hydroureter" ], "gold_answer": "Abnormal ureter morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05090", "question": "What is associated with Abnormal horizontal rectus muscle physiology?", "seeds": [ "Abnormal horizontal rectus muscle physiology" ], "gold_answer": "Abnormal rectus muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05091", "question": "What is associated with Decreased size of nerve terminals?", "seeds": [ "Decreased size of nerve terminals" ], "gold_answer": "Abnormal peripheral nervous system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05092", "question": "What is associated with Recent past medical history?", "seeds": [ "Recent past medical history" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05093", "question": "What is associated with Abnormal tibia morphology?", "seeds": [ "Abnormal tibia morphology" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05094", "question": "What is associated with Midline hand movements?", "seeds": [ "Midline hand movements" ], "gold_answer": "Stereotypic upper-extremity movements", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05095", "question": "What is associated with Unesterified cholesterol accumulation in cultured fibroblasts?", "seeds": [ "Unesterified cholesterol accumulation in cultured fibroblasts" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05096", "question": "What is associated with X-linked severe congenital neutropenia?", "seeds": [ "X-linked severe congenital neutropenia" ], "gold_answer": "Abnormal total neutrophil count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05097", "question": "What is associated with Broad distal phalanx of the 4th finger?", "seeds": [ "Broad distal phalanx of the 4th finger" ], "gold_answer": "Broad phalanx", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05098", "question": "What is associated with Head tremor?", "seeds": [ "Head tremor" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05099", "question": "What phenotype is associated with Deafness, autosomal recessive 28?", "seeds": [ "Deafness, autosomal recessive 28" ], "gold_answer": "Severe sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05100", "question": "What is associated with Central opacification of the cornea?", "seeds": [ "Central opacification of the cornea" ], "gold_answer": "Opacification of the corneal stroma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05101", "question": "What is associated with Enlarged metacarpal epiphyses?", "seeds": [ "Enlarged metacarpal epiphyses" ], "gold_answer": "Abnormal metacarpal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05102", "question": "What is associated with Stippling of the epiphysis of the distal phalanx of the 3rd toe?", "seeds": [ "Stippling of the epiphysis of the distal phalanx of the 3rd toe" ], "gold_answer": "Abnormality of the epiphysis of the distal phalanx of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05103", "question": "What is associated with Intrahepatic bile duct dilatation?", "seeds": [ "Intrahepatic bile duct dilatation" ], "gold_answer": "Abnormal intrahepatic bile duct morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05104", "question": "What is associated with Mitochondrial complex IV deficiency, nuclear type 15?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 15" ], "gold_answer": "Abnormal CSF lactate concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05105", "question": "What is associated with Elevated urine octanoic acid level?", "seeds": [ "Elevated urine octanoic acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05106", "question": "What is associated with Partial duplication of the distal phalanx of the 2nd toe?", "seeds": [ "Partial duplication of the distal phalanx of the 2nd toe" ], "gold_answer": "Abnormal distal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05107", "question": "What is associated with Abnormality of salivation?", "seeds": [ "Abnormality of salivation" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05108", "question": "What is associated with Impulsivity?", "seeds": [ "Impulsivity" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05109", "question": "What is associated with Generalized aminoaciduria?", "seeds": [ "Generalized aminoaciduria" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05110", "question": "What is associated with Paget disease of bone 6?", "seeds": [ "Paget disease of bone 6" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05111", "question": "What is associated with COG8-CDG?", "seeds": [ "COG8-CDG" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05112", "question": "What is associated with Foveal photoreceptor layer loss on macular OCT?", "seeds": [ "Foveal photoreceptor layer loss on macular OCT" ], "gold_answer": "Abnormal retinal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05113", "question": "What is associated with Delayed speech and language development?", "seeds": [ "Delayed speech and language development" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05114", "question": "What is associated with Widow's peak?", "seeds": [ "Widow's peak" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05115", "question": "What is associated with Rahman syndrome?", "seeds": [ "Rahman syndrome" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05116", "question": "What is associated with Arcuate vein lumen organized thrombi?", "seeds": [ "Arcuate vein lumen organized thrombi" ], "gold_answer": "Abnormal arcuate vein lumen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05117", "question": "What is associated with Arcuate vein intimal mucoid edema?", "seeds": [ "Arcuate vein intimal mucoid edema" ], "gold_answer": "Abnormal arcuate vein morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05118", "question": "What is associated with Placenta accreta?", "seeds": [ "Placenta accreta" ], "gold_answer": "Abnormal placenta morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05119", "question": "What phenotype is associated with Renal hypoplasia, bilateral?", "seeds": [ "Renal hypoplasia, bilateral" ], "gold_answer": "Glycosuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05120", "question": "What is associated with Irregular hyperpigmentation?", "seeds": [ "Irregular hyperpigmentation" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05121", "question": "What is associated with Dysraphism-cleft lip/palate-limb reduction defects syndrome?", "seeds": [ "Dysraphism-cleft lip/palate-limb reduction defects syndrome" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05122", "question": "What phenotype is associated with Parenteral nutrition-associated cholestasis?", "seeds": [ "Parenteral nutrition-associated cholestasis" ], "gold_answer": "Elevated circulating hepatic transaminase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05123", "question": "What is associated with Granulocytic hyperplasia?", "seeds": [ "Granulocytic hyperplasia" ], "gold_answer": "Abnormal granulocytopoietic cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05124", "question": "What is associated with Hippocampal sclerosis?", "seeds": [ "Hippocampal sclerosis" ], "gold_answer": "Gliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05125", "question": "What is associated with Nutrition history?", "seeds": [ "Nutrition history" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05126", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the 4th finger?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the 4th finger" ], "gold_answer": "Sclerosis of proximal phalanx of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05127", "question": "What phenotype is associated with Robinow-Sorauf syndrome?", "seeds": [ "Robinow-Sorauf syndrome" ], "gold_answer": "Pansynostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05128", "question": "What is associated with Abnormal CSF protein concentration?", "seeds": [ "Abnormal CSF protein concentration" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05129", "question": "What phenotype is associated with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2?", "seeds": [ "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" ], "gold_answer": "Cytochrome C oxidase-negative muscle fibers", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05130", "question": "What is associated with Molybdenum cofactor deficiency, type B2?", "seeds": [ "Molybdenum cofactor deficiency, type B2" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05131", "question": "What is associated with Increased circulating T4 concentration?", "seeds": [ "Increased circulating T4 concentration" ], "gold_answer": "Abnormal circulating thyroid hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05132", "question": "What is associated with Renal interstitial calcium phosphate deposits?", "seeds": [ "Renal interstitial calcium phosphate deposits" ], "gold_answer": "Renal interstitial deposits", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05133", "question": "What is associated with Beta-alaninuria?", "seeds": [ "Beta-alaninuria" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05134", "question": "What is associated with Irregular epiphysis of the distal phalanx of the 4th toe?", "seeds": [ "Irregular epiphysis of the distal phalanx of the 4th toe" ], "gold_answer": "Irregular epiphyses of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05135", "question": "What is associated with Cigarette-paper scars?", "seeds": [ "Cigarette-paper scars" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05136", "question": "What is associated with Intratubular calcium phosphate casts?", "seeds": [ "Intratubular calcium phosphate casts" ], "gold_answer": "Renal intratubular casts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05137", "question": "What is associated with Postauricular pit?", "seeds": [ "Postauricular pit" ], "gold_answer": "Periauricular skin pits", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05138", "question": "What is associated with Posterior vertebral body notching?", "seeds": [ "Posterior vertebral body notching" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05139", "question": "What is associated with Increased urine phenylacetylglutamine level?", "seeds": [ "Increased urine phenylacetylglutamine level" ], "gold_answer": "Increased urine proteinogenic amino acid derivative level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05140", "question": "What is associated with Elevated circulating reticulated platelet count?", "seeds": [ "Elevated circulating reticulated platelet count" ], "gold_answer": "Abnormal platelet morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05141", "question": "What is associated with Decreased mixed venous oxygen saturation?", "seeds": [ "Decreased mixed venous oxygen saturation" ], "gold_answer": "Abnormal mixed venous oxygen saturation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05142", "question": "What is associated with Complete duplication of the first metacarpal?", "seeds": [ "Complete duplication of the first metacarpal" ], "gold_answer": "Complete duplication of the proximal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05143", "question": "What is associated with Positive mycobacterium CSF microscopy?", "seeds": [ "Positive mycobacterium CSF microscopy" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05144", "question": "What is associated with Ectodermal dysplasia 4, hair/nail type?", "seeds": [ "Ectodermal dysplasia 4, hair/nail type" ], "gold_answer": "Abnormal eyelash morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05145", "question": "What is associated with Ulna metaphyseal dysplasia syndrome?", "seeds": [ "Ulna metaphyseal dysplasia syndrome" ], "gold_answer": "Abnormal circulating calcium concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05146", "question": "What is associated with Periapical bone loss?", "seeds": [ "Periapical bone loss" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05147", "question": "What is associated with Osteolytic defects of the distal phalanx of the 3rd toe?", "seeds": [ "Osteolytic defects of the distal phalanx of the 3rd toe" ], "gold_answer": "Osteolytic defects of the phalanges of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05148", "question": "What is associated with Fixed head retroflexion?", "seeds": [ "Fixed head retroflexion" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05149", "question": "What phenotype is associated with O'donnell-Luria-Rodan syndrome?", "seeds": [ "O'donnell-Luria-Rodan syndrome" ], "gold_answer": "Abnormal corpus callosum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05150", "question": "What is associated with Hyperparathyroidism, transient neonatal?", "seeds": [ "Hyperparathyroidism, transient neonatal" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05151", "question": "What is associated with Frontotemporal dementia and/or amyotrophic lateral sclerosis 4?", "seeds": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05152", "question": "What phenotype is associated with Chromosome 16p13.2 deletion syndrome?", "seeds": [ "Chromosome 16p13.2 deletion syndrome" ], "gold_answer": "Premature adrenarche", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05153", "question": "What is associated with Abnormal anus morphology?", "seeds": [ "Abnormal anus morphology" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05154", "question": "What is associated with Cortical radial artery intraluminal thrombi?", "seeds": [ "Cortical radial artery intraluminal thrombi" ], "gold_answer": "Abnormal cortical radial artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05155", "question": "What is associated with Hip joint hypermobility?", "seeds": [ "Hip joint hypermobility" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05156", "question": "What is associated with Synostosis involving bones of the upper limbs?", "seeds": [ "Synostosis involving bones of the upper limbs" ], "gold_answer": "Abnormality of upper limb joint", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05157", "question": "What is associated with Non-caseating epithelioid cell granulomatosis?", "seeds": [ "Non-caseating epithelioid cell granulomatosis" ], "gold_answer": "Abnormal macrophage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05158", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 59?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 59" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05159", "question": "What is associated with Abnormal leukocyte morphology?", "seeds": [ "Abnormal leukocyte morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05160", "question": "What is associated with Microphthalmia, syndromic 13?", "seeds": [ "Microphthalmia, syndromic 13" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05161", "question": "What is associated with Osteolytic defects of the proximal phalanx of the 3rd toe?", "seeds": [ "Osteolytic defects of the proximal phalanx of the 3rd toe" ], "gold_answer": "Abnormal third toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05162", "question": "What is associated with Ovarian papillary adenocarcinoma?", "seeds": [ "Ovarian papillary adenocarcinoma" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05163", "question": "What is associated with Asymmetric septal hypertrophy?", "seeds": [ "Asymmetric septal hypertrophy" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05164", "question": "What is associated with Camptodactyly?", "seeds": [ "Camptodactyly" ], "gold_answer": "Flexion contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05165", "question": "What is associated with Enhanced neurotoxicity of vincristine?", "seeds": [ "Enhanced neurotoxicity of vincristine" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05166", "question": "What is associated with MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome?", "seeds": [ "MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome" ], "gold_answer": "Abnormal mitochondrial shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05167", "question": "What is associated with Spermatogenic failure 52?", "seeds": [ "Spermatogenic failure 52" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05168", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" ], "gold_answer": "Aplasia/Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05169", "question": "What is associated with Aplasia/Hypoplasia of the 4th metacarpal?", "seeds": [ "Aplasia/Hypoplasia of the 4th metacarpal" ], "gold_answer": "Aplasia/hypoplasia involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05170", "question": "What is associated with Decreased circulating inhibin B concentration?", "seeds": [ "Decreased circulating inhibin B concentration" ], "gold_answer": "Abnormal circulating inhibin B concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05171", "question": "What is associated with Anterior bowing of long bones?", "seeds": [ "Anterior bowing of long bones" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05172", "question": "What phenotype is associated with Acrorenal-Mandibular syndrome?", "seeds": [ "Acrorenal-Mandibular syndrome" ], "gold_answer": "Hypoplasia of the ulna", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05173", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 8?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 8" ], "gold_answer": "Abnormality of pancreas physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05174", "question": "What is associated with Distal lower limb amyotrophy?", "seeds": [ "Distal lower limb amyotrophy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05175", "question": "What is associated with Autosomal dominant mitochondrial myopathy with exercise intolerance?", "seeds": [ "Autosomal dominant mitochondrial myopathy with exercise intolerance" ], "gold_answer": "Abnormality of facial soft tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05176", "question": "What is associated with Partial duplication of the distal phalanx of the 4th finger?", "seeds": [ "Partial duplication of the distal phalanx of the 4th finger" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05177", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 50?", "seeds": [ "Ciliary dyskinesia, primary, 50" ], "gold_answer": "Reduced sperm motility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05178", "question": "What is associated with Abnormal nail growth?", "seeds": [ "Abnormal nail growth" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05179", "question": "What is associated with Epidermoid cyst?", "seeds": [ "Epidermoid cyst" ], "gold_answer": "Cutaneous cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05180", "question": "What is associated with Oval macrocytosis?", "seeds": [ "Oval macrocytosis" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05181", "question": "What is associated with Cerebellar ataxia-ectodermal dysplasia syndrome?", "seeds": [ "Cerebellar ataxia-ectodermal dysplasia syndrome" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05182", "question": "What is associated with Cataract, crystalline coralliform?", "seeds": [ "Cataract, crystalline coralliform" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05183", "question": "What is associated with Diamond-Blackfan anemia 21?", "seeds": [ "Diamond-Blackfan anemia 21" ], "gold_answer": "Preaxial polydactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05184", "question": "What is associated with Hypodeviation?", "seeds": [ "Hypodeviation" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05185", "question": "What is associated with Auditory sensory seeking?", "seeds": [ "Auditory sensory seeking" ], "gold_answer": "Sensory seeking", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05186", "question": "What phenotype is associated with Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2?", "seeds": [ "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2" ], "gold_answer": "Leukoencephalopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05187", "question": "What is associated with Atrial tachyarrhythmia with short pr interval?", "seeds": [ "Atrial tachyarrhythmia with short pr interval" ], "gold_answer": "Paroxysmal supraventricular tachycardia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05188", "question": "What is associated with Dysmorphic inferior cerebellar vermis?", "seeds": [ "Dysmorphic inferior cerebellar vermis" ], "gold_answer": "Abnormal cerebellar vermis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05189", "question": "What is associated with Abnormal morphology of left ventricular trabeculae?", "seeds": [ "Abnormal morphology of left ventricular trabeculae" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05190", "question": "What is associated with Adiposis dolorosa?", "seeds": [ "Adiposis dolorosa" ], "gold_answer": "Abnormal oral physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05191", "question": "What is associated with DIASTEMATOMYELIA?", "seeds": [ "DIASTEMATOMYELIA" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05192", "question": "What is associated with Lytic defects of ulnar metaphysis?", "seeds": [ "Lytic defects of ulnar metaphysis" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05193", "question": "What is associated with Tubular shadows?", "seeds": [ "Tubular shadows" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05194", "question": "What is associated with Spastic ataxia 9, autosomal recessive?", "seeds": [ "Spastic ataxia 9, autosomal recessive" ], "gold_answer": "Functional motor deficit", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05195", "question": "What is associated with Reduced circulating complement concentration?", "seeds": [ "Reduced circulating complement concentration" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05196", "question": "What is associated with Urate-Binding globulin, decrease in?", "seeds": [ "Urate-Binding globulin, decrease in" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05197", "question": "What is associated with Metacarpophalangeal thumb joint contracture?", "seeds": [ "Metacarpophalangeal thumb joint contracture" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05198", "question": "What is associated with Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome?", "seeds": [ "Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05199", "question": "What is associated with Pseudo-fractures?", "seeds": [ "Pseudo-fractures" ], "gold_answer": "Abnormal cortical bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05200", "question": "What is associated with Abnormal geniohyoid muscle morphology?", "seeds": [ "Abnormal geniohyoid muscle morphology" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05201", "question": "What is associated with Abnormal 5th metacarpal epiphysis morphology?", "seeds": [ "Abnormal 5th metacarpal epiphysis morphology" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05202", "question": "What is associated with Prominent frontal sinuses?", "seeds": [ "Prominent frontal sinuses" ], "gold_answer": "Abnormality of the upper respiratory tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05203", "question": "What is associated with Nodular subcortical heterotopia in peritrigonal regions?", "seeds": [ "Nodular subcortical heterotopia in peritrigonal regions" ], "gold_answer": "Subcortical heterotopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05204", "question": "What phenotype is associated with Proteasome-associated autoinflammatory syndrome 6?", "seeds": [ "Proteasome-associated autoinflammatory syndrome 6" ], "gold_answer": "Increased circulating interferon-gamma concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05205", "question": "What is associated with Abnormal retinal morphology on macular OCT?", "seeds": [ "Abnormal retinal morphology on macular OCT" ], "gold_answer": "Abnormal posterior segment imaging", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05206", "question": "What is associated with Macular cotton wool spot?", "seeds": [ "Macular cotton wool spot" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05207", "question": "What is associated with Serpentine fibula?", "seeds": [ "Serpentine fibula" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05208", "question": "What is associated with Intestinal perforation?", "seeds": [ "Intestinal perforation" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05209", "question": "What is associated with Cranium bifidum occultum?", "seeds": [ "Cranium bifidum occultum" ], "gold_answer": "Encephalocele", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05210", "question": "What is associated with Hypnagogic hallucination?", "seeds": [ "Hypnagogic hallucination" ], "gold_answer": "Sleep-wake transition abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05211", "question": "What is associated with Severe limb shortening?", "seeds": [ "Severe limb shortening" ], "gold_answer": "Limb undergrowth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05212", "question": "What is associated with Charcot-Marie-Tooth disease type 4G?", "seeds": [ "Charcot-Marie-Tooth disease type 4G" ], "gold_answer": "Talipes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05213", "question": "What is associated with Osteolytic defects of the middle phalanx of the 5th toe?", "seeds": [ "Osteolytic defects of the middle phalanx of the 5th toe" ], "gold_answer": "Osteolytic defects of the phalanges of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05214", "question": "What is associated with Fetal subependymal hemorrhage?", "seeds": [ "Fetal subependymal hemorrhage" ], "gold_answer": "Abnormal fetal central nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05215", "question": "What phenotype is associated with Parkinson disease 21?", "seeds": [ "Parkinson disease 21" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05216", "question": "What is associated with Circumscribed palmoplantar hypokeratosis?", "seeds": [ "Circumscribed palmoplantar hypokeratosis" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05217", "question": "What is associated with Lithium transport?", "seeds": [ "Lithium transport" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05218", "question": "What is associated with Inspiratory crackles?", "seeds": [ "Inspiratory crackles" ], "gold_answer": "Abnormal breath sound", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05219", "question": "What is associated with Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay?", "seeds": [ "Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay" ], "gold_answer": "Sensory neuropathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05220", "question": "What is associated with Second trimester onset?", "seeds": [ "Second trimester onset" ], "gold_answer": "Fetal onset", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05221", "question": "What is associated with Ulnar radial head dislocation?", "seeds": [ "Ulnar radial head dislocation" ], "gold_answer": "Dislocated radial head", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05222", "question": "What is associated with Neurocardiorenal malformation syndrome?", "seeds": [ "Neurocardiorenal malformation syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05223", "question": "What is associated with Dystonia 25?", "seeds": [ "Dystonia 25" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05224", "question": "What is associated with Limitation of neck motion?", "seeds": [ "Limitation of neck motion" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05225", "question": "What is associated with Gingival bleeding?", "seeds": [ "Gingival bleeding" ], "gold_answer": "Abnormality of the gingiva", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05226", "question": "What is associated with Maturity-onset diabetes of the young, type 12?", "seeds": [ "Maturity-onset diabetes of the young, type 12" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05227", "question": "What is associated with Primrose syndrome?", "seeds": [ "Primrose syndrome" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05228", "question": "What is associated with Osteoma of middle ear?", "seeds": [ "Osteoma of middle ear" ], "gold_answer": "Neoplasm of the skeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05229", "question": "What is associated with Coproporphyria?", "seeds": [ "Coproporphyria" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05230", "question": "What is associated with Arcuate intimal/medial venulitis?", "seeds": [ "Arcuate intimal/medial venulitis" ], "gold_answer": "Abnormal intrarenal vein morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05231", "question": "What is associated with Classical Ehlers-Danlos syndrome?", "seeds": [ "Classical Ehlers-Danlos syndrome" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05232", "question": "What is associated with Hypertrichosis cubiti?", "seeds": [ "Hypertrichosis cubiti" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05233", "question": "What is associated with Abnormal CSF phenylalanine concentration?", "seeds": [ "Abnormal CSF phenylalanine concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05234", "question": "What is associated with Beckwith-Wiedemann syndrome due to imprinting defect of 11p15?", "seeds": [ "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15" ], "gold_answer": "H19", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "role_in_the_phenotype_of" } }, { "query_id": "orph_train_05235", "question": "What is associated with Anterior ankle pain?", "seeds": [ "Anterior ankle pain" ], "gold_answer": "Lower limb pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05236", "question": "What is associated with Middle cerebral artery stenosis?", "seeds": [ "Middle cerebral artery stenosis" ], "gold_answer": "Abnormal cerebral artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05237", "question": "What is associated with Developmental and epileptic encephalopathy 47?", "seeds": [ "Developmental and epileptic encephalopathy 47" ], "gold_answer": "Reduced attention regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05238", "question": "What phenotype is associated with Retinitis pigmentosa 20?", "seeds": [ "Retinitis pigmentosa 20" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05239", "question": "What is associated with Abnormal psychotic pattern?", "seeds": [ "Abnormal psychotic pattern" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05240", "question": "What is associated with Abnormal electroretinogram?", "seeds": [ "Abnormal electroretinogram" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05241", "question": "What is associated with Osteochondroma?", "seeds": [ "Osteochondroma" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05242", "question": "What is associated with Macroorchidism?", "seeds": [ "Macroorchidism" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05243", "question": "What is associated with Immunodeficiency 94 with autoinflammation and dysmorphic facies?", "seeds": [ "Immunodeficiency 94 with autoinflammation and dysmorphic facies" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05244", "question": "What is associated with Abnormality of the epiphyses of the 2nd finger?", "seeds": [ "Abnormality of the epiphyses of the 2nd finger" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05245", "question": "What is associated with Neonatal Marfan syndrome?", "seeds": [ "Neonatal Marfan syndrome" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05246", "question": "What phenotype is associated with Hypobetalipoproteinemia, familial, 2?", "seeds": [ "Hypobetalipoproteinemia, familial, 2" ], "gold_answer": "Hypotriglyceridemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05247", "question": "What is associated with Deficit at segmental level?", "seeds": [ "Deficit at segmental level" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05248", "question": "What is associated with Tooth malformation?", "seeds": [ "Tooth malformation" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05249", "question": "What is associated with Hair follicle neoplasm?", "seeds": [ "Hair follicle neoplasm" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05250", "question": "What is associated with Abnormal urinary purine level?", "seeds": [ "Abnormal urinary purine level" ], "gold_answer": "Abnormal urinary nucleobase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05251", "question": "What is associated with Wide distal femoral metaphysis?", "seeds": [ "Wide distal femoral metaphysis" ], "gold_answer": "Abnormal femoral metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05252", "question": "What is associated with Autosomal dominant congenital benign spinal muscular atrophy?", "seeds": [ "Autosomal dominant congenital benign spinal muscular atrophy" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05253", "question": "What is associated with Abnormal circulating pyruvate family amino acid concentration?", "seeds": [ "Abnormal circulating pyruvate family amino acid concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid derivative concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05254", "question": "What is associated with Gurrieri syndrome?", "seeds": [ "Gurrieri syndrome" ], "gold_answer": "Abnormal iliac wing morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05255", "question": "What phenotype is associated with Complement component c1s deficiency?", "seeds": [ "Complement component c1s deficiency" ], "gold_answer": "Raynaud phenomenon", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05256", "question": "What is associated with Myopathy, distal 3?", "seeds": [ "Myopathy, distal 3" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05257", "question": "What phenotype is associated with Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline?", "seeds": [ "Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" ], "gold_answer": "Bowel incontinence", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05258", "question": "What is associated with Abnormal urinary nitrogen compound level?", "seeds": [ "Abnormal urinary nitrogen compound level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05259", "question": "What is associated with Calcification of joints and arteries?", "seeds": [ "Calcification of joints and arteries" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05260", "question": "What phenotype is associated with Microtia, third degree?", "seeds": [ "Microtia, third degree" ], "gold_answer": "Macrotia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05261", "question": "What is associated with Abnormal vena cava physiology?", "seeds": [ "Abnormal vena cava physiology" ], "gold_answer": "Abnormality of venous physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05262", "question": "What is associated with Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test?", "seeds": [ "Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05263", "question": "What is associated with Osteolytic defects of the phalanges of the 4th finger?", "seeds": [ "Osteolytic defects of the phalanges of the 4th finger" ], "gold_answer": "Abnormal 4th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05264", "question": "What is associated with KDM5C-related syndromic X-linked intellectual disability?", "seeds": [ "KDM5C-related syndromic X-linked intellectual disability" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05265", "question": "What is associated with Nemaline myopathy 4?", "seeds": [ "Nemaline myopathy 4" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05266", "question": "What is associated with Polyarticular chondrocalcinosis?", "seeds": [ "Polyarticular chondrocalcinosis" ], "gold_answer": "Chondrocalcinosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05267", "question": "What is associated with Absent zona pellucida?", "seeds": [ "Absent zona pellucida" ], "gold_answer": "Abnormal oocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05268", "question": "What is associated with Tracheal agenesis?", "seeds": [ "Tracheal agenesis" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05269", "question": "What is associated with Fundic gland polyposis?", "seeds": [ "Fundic gland polyposis" ], "gold_answer": "Neoplasm of the stomach", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05270", "question": "What is associated with FKRP-related limb-girdle muscular dystrophy R9?", "seeds": [ "FKRP-related limb-girdle muscular dystrophy R9" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05271", "question": "What is associated with Near exotropia?", "seeds": [ "Near exotropia" ], "gold_answer": "Exotropia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05272", "question": "What is associated with Optic atrophy 1?", "seeds": [ "Optic atrophy 1" ], "gold_answer": "Color vision defect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05273", "question": "What is associated with Arthrogryposis-Like hand anomaly and sensorineural deafness?", "seeds": [ "Arthrogryposis-Like hand anomaly and sensorineural deafness" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05274", "question": "What is associated with Abnormality of the epiphysis of the middle phalanx of the 5th toe?", "seeds": [ "Abnormality of the epiphysis of the middle phalanx of the 5th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05275", "question": "What is associated with Parietal hypometabolism in FDG PET?", "seeds": [ "Parietal hypometabolism in FDG PET" ], "gold_answer": "Brain imaging abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05276", "question": "What is associated with Polyendocrine-polyneuropathy syndrome?", "seeds": [ "Polyendocrine-polyneuropathy syndrome" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05277", "question": "What is associated with Progressive supranuclear palsy?", "seeds": [ "Progressive supranuclear palsy" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05278", "question": "What is associated with EEG with frontal sharp waves?", "seeds": [ "EEG with frontal sharp waves" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05279", "question": "What is associated with Enteric anendocrinosis?", "seeds": [ "Enteric anendocrinosis" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05280", "question": "What is associated with Irregular RR interval?", "seeds": [ "Irregular RR interval" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05281", "question": "What is associated with Pancreatic colipase deficiency?", "seeds": [ "Pancreatic colipase deficiency" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05282", "question": "What is associated with Radio-Tartaglia syndrome?", "seeds": [ "Radio-Tartaglia syndrome" ], "gold_answer": "Abnormal fetal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05283", "question": "What is associated with Posterior embryotoxon?", "seeds": [ "Posterior embryotoxon" ], "gold_answer": "Abnormal line of Schwalbe morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05284", "question": "What is associated with Spinal myoclonus?", "seeds": [ "Spinal myoclonus" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05285", "question": "What is associated with Bruising susceptibility?", "seeds": [ "Bruising susceptibility" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05286", "question": "What is associated with Slanting of the palpebral fissure?", "seeds": [ "Slanting of the palpebral fissure" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05287", "question": "What is associated with Cartilaginous ossification of larynx?", "seeds": [ "Cartilaginous ossification of larynx" ], "gold_answer": "Abnormality of the larynx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05288", "question": "What is associated with Complete duplication of proximal phalanx of the thumb?", "seeds": [ "Complete duplication of proximal phalanx of the thumb" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05289", "question": "What is associated with Absent zona pellucida?", "seeds": [ "Absent zona pellucida" ], "gold_answer": "Abnormal zona pellucida morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05290", "question": "What is associated with Reduced factor VII activity?", "seeds": [ "Reduced factor VII activity" ], "gold_answer": "Abnormality of the extrinsic pathway", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05291", "question": "What is associated with Hyperammonemia due to N-acetylglutamate synthase deficiency?", "seeds": [ "Hyperammonemia due to N-acetylglutamate synthase deficiency" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05292", "question": "What is associated with Left ventricular thrombus?", "seeds": [ "Left ventricular thrombus" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05293", "question": "What is associated with Granulomatosis with polyangiitis?", "seeds": [ "Granulomatosis with polyangiitis" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05294", "question": "What phenotype is associated with Glutathione peroxidase deficiency?", "seeds": [ "Glutathione peroxidase deficiency" ], "gold_answer": "Compensated hemolytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05295", "question": "What is associated with Lupus erythematosus tumidus?", "seeds": [ "Lupus erythematosus tumidus" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05296", "question": "What is associated with Dopamine antagonist exposure?", "seeds": [ "Dopamine antagonist exposure" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05297", "question": "What is associated with Craniocervical junction constriction?", "seeds": [ "Craniocervical junction constriction" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05298", "question": "What is associated with Hawkinsinuria?", "seeds": [ "Hawkinsinuria" ], "gold_answer": "Dicarboxylic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05299", "question": "What is associated with Abnormal class-switched memory B cell proportion?", "seeds": [ "Abnormal class-switched memory B cell proportion" ], "gold_answer": "Abnormal B cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05300", "question": "What is associated with Focal cognitive seizure with forced thinking?", "seeds": [ "Focal cognitive seizure with forced thinking" ], "gold_answer": "Psychic epileptic aura", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05301", "question": "What is associated with Elevated urinary 2,4-dihydroxybutyric acid level?", "seeds": [ "Elevated urinary 2,4-dihydroxybutyric acid level" ], "gold_answer": "Organic aciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05302", "question": "What is associated with Broad phalanx?", "seeds": [ "Broad phalanx" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05303", "question": "What phenotype is associated with Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia?", "seeds": [ "Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" ], "gold_answer": "Lewy bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05304", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 39?", "seeds": [ "Ciliary dyskinesia, primary, 39" ], "gold_answer": "Tachypnea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05305", "question": "What is associated with Uric acid urolithiasis independent of gout?", "seeds": [ "Uric acid urolithiasis independent of gout" ], "gold_answer": "Uric acid nephrolithiasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05306", "question": "What is associated with Kleefstra syndrome 2?", "seeds": [ "Kleefstra syndrome 2" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05307", "question": "What is associated with Neuromuscular dysphagia?", "seeds": [ "Neuromuscular dysphagia" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05308", "question": "What is associated with Hypoplastic pulmonary veins?", "seeds": [ "Hypoplastic pulmonary veins" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05309", "question": "What phenotype is associated with Temtamy syndrome?", "seeds": [ "Temtamy syndrome" ], "gold_answer": "Convex nasal ridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05310", "question": "What is associated with Food intolerance?", "seeds": [ "Food intolerance" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05311", "question": "What is associated with Neuropathy, hereditary sensory and autonomic, type II?", "seeds": [ "Neuropathy, hereditary sensory and autonomic, type II" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05312", "question": "What is associated with Autosomal dominant spastic paraplegia type 37?", "seeds": [ "Autosomal dominant spastic paraplegia type 37" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05313", "question": "What is associated with Congenital horizontal nystagmus?", "seeds": [ "Congenital horizontal nystagmus" ], "gold_answer": "Congenital nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05314", "question": "What is associated with Reduced tissue argininosuccinate synthetase activity?", "seeds": [ "Reduced tissue argininosuccinate synthetase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05315", "question": "What is associated with Difficulty floating in water?", "seeds": [ "Difficulty floating in water" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05316", "question": "What is associated with Multinodular goiter?", "seeds": [ "Multinodular goiter" ], "gold_answer": "Abnormal thyroid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05317", "question": "What phenotype is associated with ALACRIMA?", "seeds": [ "ALACRIMA" ], "gold_answer": "Punctate corneal epithelial erosions", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05318", "question": "What is associated with Exudative vitreoretinopathy 8?", "seeds": [ "Exudative vitreoretinopathy 8" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05319", "question": "What is associated with Abnormally low-pitched voice?", "seeds": [ "Abnormally low-pitched voice" ], "gold_answer": "Abnormal prosody", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05320", "question": "What is associated with Abnormality of adrenal physiology?", "seeds": [ "Abnormality of adrenal physiology" ], "gold_answer": "Abnormality of the adrenal glands", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05321", "question": "What is associated with Focal myositis?", "seeds": [ "Focal myositis" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05322", "question": "What is associated with Non-syndromic agammaglobulinemia?", "seeds": [ "Non-syndromic agammaglobulinemia" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05323", "question": "What is associated with Transient decreased circulating IgE concentration?", "seeds": [ "Transient decreased circulating IgE concentration" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05324", "question": "What is associated with Elevated CSF beta-alanine concentration?", "seeds": [ "Elevated CSF beta-alanine concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05325", "question": "What is associated with Hereditary angioedema type 1?", "seeds": [ "Hereditary angioedema type 1" ], "gold_answer": "Abnormal pharynx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05326", "question": "What is associated with Generalized arterial tortuosity?", "seeds": [ "Generalized arterial tortuosity" ], "gold_answer": "Arterial tortuosity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05327", "question": "What phenotype is associated with Tuberous sclerosis-2?", "seeds": [ "Tuberous sclerosis-2" ], "gold_answer": "Ventriculomegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05328", "question": "What is associated with Wide space between 4th and 5th toe?", "seeds": [ "Wide space between 4th and 5th toe" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05329", "question": "What is associated with Scoliosis, isolated, susceptibility to, 6?", "seeds": [ "Scoliosis, isolated, susceptibility to, 6" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05330", "question": "What is associated with Abnormality of the premaxilla?", "seeds": [ "Abnormality of the premaxilla" ], "gold_answer": "Abnormal maxilla morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05331", "question": "What phenotype is associated with Li-Takada-Miyake syndrome?", "seeds": [ "Li-Takada-Miyake syndrome" ], "gold_answer": "Enuresis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05332", "question": "What is associated with Intellectual disability-myopathy-short stature-endocrine defect syndrome?", "seeds": [ "Intellectual disability-myopathy-short stature-endocrine defect syndrome" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05333", "question": "What is associated with Xanthogranulomatous pyelonephritis?", "seeds": [ "Xanthogranulomatous pyelonephritis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05334", "question": "What is associated with Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies?", "seeds": [ "Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05335", "question": "What is associated with Skin plaque?", "seeds": [ "Skin plaque" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05336", "question": "What is associated with Reduced insulin-like factor 3 level?", "seeds": [ "Reduced insulin-like factor 3 level" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05337", "question": "What phenotype is associated with Immunodeficiency 62?", "seeds": [ "Immunodeficiency 62" ], "gold_answer": "Autoimmune thrombocytopenia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05338", "question": "What is associated with Bullet-shaped proximal toe phalanx?", "seeds": [ "Bullet-shaped proximal toe phalanx" ], "gold_answer": "Bullet-shaped toe phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05339", "question": "What is associated with Coarctation in the transverse aortic arch?", "seeds": [ "Coarctation in the transverse aortic arch" ], "gold_answer": "Hypoplastic ventricle", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05340", "question": "What is associated with Short stature with nonspecific skeletal abnormalities?", "seeds": [ "Short stature with nonspecific skeletal abnormalities" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05341", "question": "What is associated with Postductal coarctation of the aorta?", "seeds": [ "Postductal coarctation of the aorta" ], "gold_answer": "Abnormal aortic arch morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05342", "question": "What phenotype is associated with Corneal dystrophy, fuchs endothelial, 1?", "seeds": [ "Corneal dystrophy, fuchs endothelial, 1" ], "gold_answer": "Corneal dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05343", "question": "What is associated with Ciliary dyskinesia, primary, 18?", "seeds": [ "Ciliary dyskinesia, primary, 18" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05344", "question": "What is associated with Renal arteriole intima/media liquefactive necrosis?", "seeds": [ "Renal arteriole intima/media liquefactive necrosis" ], "gold_answer": "Abnormal renal arteriole morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05345", "question": "What is associated with Recurrent protozoan infections?", "seeds": [ "Recurrent protozoan infections" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05346", "question": "What is associated with Distal sensory impairment of all modalities?", "seeds": [ "Distal sensory impairment of all modalities" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05347", "question": "What is associated with Aplasia/Hypoplasia of the 3rd finger?", "seeds": [ "Aplasia/Hypoplasia of the 3rd finger" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05348", "question": "What is associated with Addictive cocaine use?", "seeds": [ "Addictive cocaine use" ], "gold_answer": "Addictive substance use", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05349", "question": "What is associated with Spinocerebellar ataxia, X-linked 2?", "seeds": [ "Spinocerebellar ataxia, X-linked 2" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05350", "question": "What phenotype is associated with Mitochondrial complex I deficiency, nuclear type 10?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 10" ], "gold_answer": "Dysphagia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05351", "question": "What is associated with Aplasia/Hypoplasia of the distal phalanx of the hallux?", "seeds": [ "Aplasia/Hypoplasia of the distal phalanx of the hallux" ], "gold_answer": "Abnormal hallux phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05352", "question": "What is associated with Abnormal anterior fontanelle morphology?", "seeds": [ "Abnormal anterior fontanelle morphology" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05353", "question": "What is associated with Ameliorated by colchicine?", "seeds": [ "Ameliorated by colchicine" ], "gold_answer": "Ameliorated by", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05354", "question": "What is associated with Abnormal circulating gastrin concentration?", "seeds": [ "Abnormal circulating gastrin concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05355", "question": "What phenotype is associated with Dystonia 22, adult-onset?", "seeds": [ "Dystonia 22, adult-onset" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05356", "question": "What is associated with Abnormality of palatoglossus muscle?", "seeds": [ "Abnormality of palatoglossus muscle" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05357", "question": "What is associated with Anti-P/Q-type VGCC antibody positivity?", "seeds": [ "Anti-P/Q-type VGCC antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05358", "question": "What is associated with Follicular hyperkeratosis?", "seeds": [ "Follicular hyperkeratosis" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05359", "question": "What is associated with Oral cavity telangiectasia?", "seeds": [ "Oral cavity telangiectasia" ], "gold_answer": "Telangiectasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05360", "question": "What phenotype is associated with Deafness, autosomal dominant 65?", "seeds": [ "Deafness, autosomal dominant 65" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05361", "question": "What is associated with Euthyroid hyperthyroxinemia?", "seeds": [ "Euthyroid hyperthyroxinemia" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05362", "question": "What is associated with Delusions of infestation?", "seeds": [ "Delusions of infestation" ], "gold_answer": "Delusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05363", "question": "What is associated with Pontocerebellar hypoplasia, type 14?", "seeds": [ "Pontocerebellar hypoplasia, type 14" ], "gold_answer": "Abnormal cortical gyration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05364", "question": "What is associated with Shortened outer dynein arms?", "seeds": [ "Shortened outer dynein arms" ], "gold_answer": "Abnormal respiratory motile cilium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05365", "question": "What phenotype is associated with Undifferentiated connective tissue syndrome?", "seeds": [ "Undifferentiated connective tissue syndrome" ], "gold_answer": "Anti-ribosome Po antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05366", "question": "What is associated with Erythrokeratodermia variabilis?", "seeds": [ "Erythrokeratodermia variabilis" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05367", "question": "What phenotype is associated with Intellectual disability syndrome due to a DYRK1A point mutation?", "seeds": [ "Intellectual disability syndrome due to a DYRK1A point mutation" ], "gold_answer": "Autistic behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05368", "question": "What is associated with Asymmetric thickening of the nipple-areolar complex?", "seeds": [ "Asymmetric thickening of the nipple-areolar complex" ], "gold_answer": "Abnormality of the breast", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05369", "question": "What is associated with Facial diplegia?", "seeds": [ "Facial diplegia" ], "gold_answer": "Facial palsy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05370", "question": "What is associated with Dent disease type 2?", "seeds": [ "Dent disease type 2" ], "gold_answer": "OCRL", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_05371", "question": "What is associated with Hypoplasia of the vagina?", "seeds": [ "Hypoplasia of the vagina" ], "gold_answer": "Abnormal vagina morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05372", "question": "What is associated with Carnitine palmitoyl transferase II deficiency, myopathic form?", "seeds": [ "Carnitine palmitoyl transferase II deficiency, myopathic form" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05373", "question": "What is associated with Hypertrichosis lanuginosa congenita?", "seeds": [ "Hypertrichosis lanuginosa congenita" ], "gold_answer": "Abnormality of the gingiva", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05374", "question": "What phenotype is associated with Spastic paraplegia 44, autosomal recessive?", "seeds": [ "Spastic paraplegia 44, autosomal recessive" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05375", "question": "What is associated with Viral encephalitis?", "seeds": [ "Viral encephalitis" ], "gold_answer": "Severe infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05376", "question": "What is associated with Posterior rib cupping?", "seeds": [ "Posterior rib cupping" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05377", "question": "What is associated with Elevated imprint of the transverse sinuses?", "seeds": [ "Elevated imprint of the transverse sinuses" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05378", "question": "What is associated with Optic pit?", "seeds": [ "Optic pit" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05379", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 116?", "seeds": [ "Developmental and epileptic encephalopathy 116" ], "gold_answer": "CNS hypomyelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05380", "question": "What is associated with Abnormal sex determination?", "seeds": [ "Abnormal sex determination" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05381", "question": "What is associated with Right sided atrium to left ventricle and absent left sided atrioventricular connection?", "seeds": [ "Right sided atrium to left ventricle and absent left sided atrioventricular connection" ], "gold_answer": "Abnormal connection of the cardiac segments", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05382", "question": "What is associated with Abnormality of the ureter?", "seeds": [ "Abnormality of the ureter" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05383", "question": "What is associated with Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth?", "seeds": [ "Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05384", "question": "What is associated with Sparse lower eyelashes?", "seeds": [ "Sparse lower eyelashes" ], "gold_answer": "Sparse or absent eyelashes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05385", "question": "What is associated with Paraplegia?", "seeds": [ "Paraplegia" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05386", "question": "What phenotype is associated with 2p15p16.1 microdeletion syndrome?", "seeds": [ "2p15p16.1 microdeletion syndrome" ], "gold_answer": "Prominent nasal tip", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05387", "question": "What phenotype is associated with Hypobetalipoproteinemia, familial, 1?", "seeds": [ "Hypobetalipoproteinemia, familial, 1" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05388", "question": "What is associated with Sepsis?", "seeds": [ "Sepsis" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05389", "question": "What is associated with Branchiootic syndrome 3?", "seeds": [ "Branchiootic syndrome 3" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05390", "question": "What phenotype is associated with Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay?", "seeds": [ "Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay" ], "gold_answer": "Insomnia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05391", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 18?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 18" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05392", "question": "What is associated with Colon perforation?", "seeds": [ "Colon perforation" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05393", "question": "What is associated with Eczematoid dermatitis?", "seeds": [ "Eczematoid dermatitis" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05394", "question": "What is associated with Abnormal amplitude of dark-adapted dim flash electroretinogram?", "seeds": [ "Abnormal amplitude of dark-adapted dim flash electroretinogram" ], "gold_answer": "Abnormal dark-adapted dim flash electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05395", "question": "What is associated with Hereditary angioedema with normal C1Inh?", "seeds": [ "Hereditary angioedema with normal C1Inh" ], "gold_answer": "Abnormality of complement system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05396", "question": "What is associated with Hypoplastic fifth toenail?", "seeds": [ "Hypoplastic fifth toenail" ], "gold_answer": "Hypoplastic toenails", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05397", "question": "What phenotype is associated with Rhabdomyolysis, susceptibility to, 1?", "seeds": [ "Rhabdomyolysis, susceptibility to, 1" ], "gold_answer": "Rhabdomyolysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05398", "question": "What is associated with Prolonged bleeding following circumcision?", "seeds": [ "Prolonged bleeding following circumcision" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05399", "question": "What phenotype is associated with Hemoglobin-Delta locus?", "seeds": [ "Hemoglobin-Delta locus" ], "gold_answer": "Imbalanced hemoglobin synthesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05400", "question": "What is associated with Hereditary pheochromocytoma-paraganglioma?", "seeds": [ "Hereditary pheochromocytoma-paraganglioma" ], "gold_answer": "Abnormality of chorioretinal pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05401", "question": "What is associated with Spinocerebellar tract degeneration?", "seeds": [ "Spinocerebellar tract degeneration" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05402", "question": "What is associated with Abnormal circulating chemokine concentration?", "seeds": [ "Abnormal circulating chemokine concentration" ], "gold_answer": "Abnormal immune serum protein physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05403", "question": "What is associated with Abnormal circulating thromboxane concentration?", "seeds": [ "Abnormal circulating thromboxane concentration" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05404", "question": "What is associated with Seizures, benign familial infantile, 5?", "seeds": [ "Seizures, benign familial infantile, 5" ], "gold_answer": "Dialeptic seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05405", "question": "What is associated with Abnormal sperm head morphology?", "seeds": [ "Abnormal sperm head morphology" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05406", "question": "What is associated with Upper extremity joint dislocation?", "seeds": [ "Upper extremity joint dislocation" ], "gold_answer": "Joint dislocation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05407", "question": "What is associated with Right ventricular thrombus?", "seeds": [ "Right ventricular thrombus" ], "gold_answer": "Abnormal right ventricle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05408", "question": "What phenotype is associated with Hyperphosphatasia with impaired intellectual development syndrome 1?", "seeds": [ "Hyperphosphatasia with impaired intellectual development syndrome 1" ], "gold_answer": "Wide nasal bridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05409", "question": "What is associated with Nephropathy?", "seeds": [ "Nephropathy" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05410", "question": "What is associated with Diffuse cerebral sclerosis?", "seeds": [ "Diffuse cerebral sclerosis" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05411", "question": "What is associated with Positive fecal Clostridium botulinum test?", "seeds": [ "Positive fecal Clostridium botulinum test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05412", "question": "What phenotype is associated with Triokinase and FMN cyclase deficiency syndrome?", "seeds": [ "Triokinase and FMN cyclase deficiency syndrome" ], "gold_answer": "Pancreatitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05413", "question": "What is associated with Monoclonal elevation of IgG?", "seeds": [ "Monoclonal elevation of IgG" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05414", "question": "What is associated with Abnormality of hair texture?", "seeds": [ "Abnormality of hair texture" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05415", "question": "What is associated with Lymphatic malformation 14?", "seeds": [ "Lymphatic malformation 14" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05416", "question": "What phenotype is associated with Usher syndrome, type IC?", "seeds": [ "Usher syndrome, type IC" ], "gold_answer": "Vestibular hyporeflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05417", "question": "What is associated with Aortic arch aneurysm?", "seeds": [ "Aortic arch aneurysm" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05418", "question": "What is associated with Congenital malformation of the right heart?", "seeds": [ "Congenital malformation of the right heart" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05419", "question": "What is associated with Deafness, autosomal recessive 29?", "seeds": [ "Deafness, autosomal recessive 29" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05420", "question": "What phenotype is associated with Spastic paraplegia 14, autosomal recessive?", "seeds": [ "Spastic paraplegia 14, autosomal recessive" ], "gold_answer": "Pes cavus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05421", "question": "What is associated with Aplasia/Hypoplasia involving the nose?", "seeds": [ "Aplasia/Hypoplasia involving the nose" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05422", "question": "What is associated with Increased glucose-6-phosphate dehydrogenase level in blood?", "seeds": [ "Increased glucose-6-phosphate dehydrogenase level in blood" ], "gold_answer": "Abnormal circulating glucose-6-phosphate dehydrogenase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05423", "question": "What is associated with Corpus callosum, agenesis of?", "seeds": [ "Corpus callosum, agenesis of" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05424", "question": "What is associated with Generalized clonic seizure?", "seeds": [ "Generalized clonic seizure" ], "gold_answer": "Generalized-onset motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05425", "question": "What is associated with Partial duplication of the proximal phalanx of the 5th toe?", "seeds": [ "Partial duplication of the proximal phalanx of the 5th toe" ], "gold_answer": "Abnormal morphology of the proximal phalanx of the 5th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05426", "question": "What is associated with Cardiofaciocutaneous syndrome 3?", "seeds": [ "Cardiofaciocutaneous syndrome 3" ], "gold_answer": "Abnormality of temperature regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05427", "question": "What is associated with Low maternal circulating estriol concentration?", "seeds": [ "Low maternal circulating estriol concentration" ], "gold_answer": "Abnormal maternal serum screening", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05428", "question": "What phenotype is associated with Nasopharyngeal carcinoma, susceptibility to, 3?", "seeds": [ "Nasopharyngeal carcinoma, susceptibility to, 3" ], "gold_answer": "Neoplasia of the nasopharynx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05429", "question": "What is associated with Hypogonadotropic hypogonadism 21 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 21 with or without anosmia" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05430", "question": "What is associated with Meningocele?", "seeds": [ "Meningocele" ], "gold_answer": "Neural tube defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05431", "question": "What is associated with Kariminejad neurodevelopmental syndrome?", "seeds": [ "Kariminejad neurodevelopmental syndrome" ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05432", "question": "What is associated with Decreased response to growth hormone stimulation test?", "seeds": [ "Decreased response to growth hormone stimulation test" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05433", "question": "What phenotype is associated with Braddock syndrome?", "seeds": [ "Braddock syndrome" ], "gold_answer": "Blepharophimosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05434", "question": "What is associated with Anti-arbovirus antibody positivity?", "seeds": [ "Anti-arbovirus antibody positivity" ], "gold_answer": "Bloodstream virus-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05435", "question": "What is associated with Vascular compression of the eighth cranial nerve?", "seeds": [ "Vascular compression of the eighth cranial nerve" ], "gold_answer": "Abnormal vestibulocochlear nerve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05436", "question": "What is associated with Abnormal erythrocyte metabolite concentration?", "seeds": [ "Abnormal erythrocyte metabolite concentration" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05437", "question": "What is associated with Triggered by fava bean ingestion?", "seeds": [ "Triggered by fava bean ingestion" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05438", "question": "What is associated with Stapes ankylosis?", "seeds": [ "Stapes ankylosis" ], "gold_answer": "Abnormality of the middle ear ossicles", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05439", "question": "What is associated with Scleral schwannoma?", "seeds": [ "Scleral schwannoma" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05440", "question": "What is associated with Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency?", "seeds": [ "Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05441", "question": "What is associated with Postcoital vaginal bleeding?", "seeds": [ "Postcoital vaginal bleeding" ], "gold_answer": "Abnormal vaginal bleeding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05442", "question": "What is associated with Rh deficiency syndrome?", "seeds": [ "Rh deficiency syndrome" ], "gold_answer": "Abnormal circulating bilirubin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05443", "question": "What is associated with Ectopic gallstone?", "seeds": [ "Ectopic gallstone" ], "gold_answer": "Abnormality of the gallbladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05444", "question": "What is associated with Recurrent fractures?", "seeds": [ "Recurrent fractures" ], "gold_answer": "Increased susceptibility to fractures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05445", "question": "What is associated with Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene?", "seeds": [ "Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene" ], "gold_answer": "HBA2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "role_in_the_phenotype_of" } }, { "query_id": "orph_train_05446", "question": "What phenotype is associated with Hypomagnesemia 7, renal, with or without dilated cardiomyopathy?", "seeds": [ "Hypomagnesemia 7, renal, with or without dilated cardiomyopathy" ], "gold_answer": "Reduced left ventricular ejection fraction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05447", "question": "What is associated with Absent middle phalanx of 5th finger?", "seeds": [ "Absent middle phalanx of 5th finger" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05448", "question": "What is associated with Proprioceptive-induced seizure?", "seeds": [ "Proprioceptive-induced seizure" ], "gold_answer": "Reflex seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05449", "question": "What is associated with Clavicular pseudarthrosis?", "seeds": [ "Clavicular pseudarthrosis" ], "gold_answer": "Abnormal clavicle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05450", "question": "What phenotype is associated with TOOTH SIZE?", "seeds": [ "TOOTH SIZE" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05451", "question": "What is associated with Dilatation of celiac artery?", "seeds": [ "Dilatation of celiac artery" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05452", "question": "What is associated with Aplasia of posterior communicating artery?", "seeds": [ "Aplasia of posterior communicating artery" ], "gold_answer": "Abnormal posterior circulating artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05453", "question": "What is associated with Flaring of rib cage?", "seeds": [ "Flaring of rib cage" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05454", "question": "What is associated with Amelogenesis imperfecta?", "seeds": [ "Amelogenesis imperfecta" ], "gold_answer": "Abnormal dental enamel morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05455", "question": "What phenotype is associated with X-linked spastic paraplegia type 34?", "seeds": [ "X-linked spastic paraplegia type 34" ], "gold_answer": "Impaired vibration sensation in the lower limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05456", "question": "What is associated with Neurodevelopmental disorder and language delay with or without structural brain abnormalities?", "seeds": [ "Neurodevelopmental disorder and language delay with or without structural brain abnormalities" ], "gold_answer": "Non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05457", "question": "What is associated with Transposition of the great arteries, dextro-looped 1?", "seeds": [ "Transposition of the great arteries, dextro-looped 1" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05458", "question": "What is associated with Thin clavicles?", "seeds": [ "Thin clavicles" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05459", "question": "What is associated with Helix syndrome?", "seeds": [ "Helix syndrome" ], "gold_answer": "Abnormality of the parathyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05460", "question": "What is associated with Transient hyperphenylalaninemia?", "seeds": [ "Transient hyperphenylalaninemia" ], "gold_answer": "Abnormal circulating phenylalanine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05461", "question": "What is associated with Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome?", "seeds": [ "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05462", "question": "What phenotype is associated with 8q21.11 microdeletion syndrome?", "seeds": [ "8q21.11 microdeletion syndrome" ], "gold_answer": "Microphthalmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05463", "question": "What phenotype is associated with Hepatitis, fulminant viral, susceptibility to?", "seeds": [ "Hepatitis, fulminant viral, susceptibility to" ], "gold_answer": "Fatigue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05464", "question": "What is associated with Susceptibility to coronavirus 229e?", "seeds": [ "Susceptibility to coronavirus 229e" ], "gold_answer": "Recurrent viral infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05465", "question": "What is associated with Hyperbeta-alaninemia?", "seeds": [ "Hyperbeta-alaninemia" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05466", "question": "What is associated with Contracture of the distal interphalangeal joint of the fingers?", "seeds": [ "Contracture of the distal interphalangeal joint of the fingers" ], "gold_answer": "Finger joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05467", "question": "What is associated with Impaired tandem gait?", "seeds": [ "Impaired tandem gait" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05468", "question": "What is associated with Kahrizi syndrome?", "seeds": [ "Kahrizi syndrome" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05469", "question": "What is associated with Congenital vertical talus, unilateral?", "seeds": [ "Congenital vertical talus, unilateral" ], "gold_answer": "HOXD10", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_05470", "question": "What is associated with Caesarean section?", "seeds": [ "Caesarean section" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05471", "question": "What phenotype is associated with Atrial fibrillation, familial, 2?", "seeds": [ "Atrial fibrillation, familial, 2" ], "gold_answer": "Atrial fibrillation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05472", "question": "What is associated with Inflammation of the large intestine?", "seeds": [ "Inflammation of the large intestine" ], "gold_answer": "Gastrointestinal inflammation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05473", "question": "What is associated with Decreased pituitary glycoprotein hormone alpha subunit level?", "seeds": [ "Decreased pituitary glycoprotein hormone alpha subunit level" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05474", "question": "What phenotype is associated with MYT1L-related developmental delay-intellectual disability-obesity syndrome?", "seeds": [ "MYT1L-related developmental delay-intellectual disability-obesity syndrome" ], "gold_answer": "Maternal diabetes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05475", "question": "What is associated with Methylmalonic aciduria and homocystinuria, Cblj type?", "seeds": [ "Methylmalonic aciduria and homocystinuria, Cblj type" ], "gold_answer": "Abnormal cardiac atrium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05476", "question": "What is associated with Increased muscle fatiguability?", "seeds": [ "Increased muscle fatiguability" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05477", "question": "What is associated with Anti-NR2A antibody positivity?", "seeds": [ "Anti-NR2A antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05478", "question": "What is associated with Obesity?", "seeds": [ "Obesity" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05479", "question": "What is associated with Sandal gap?", "seeds": [ "Sandal gap" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05480", "question": "What is associated with Microcephaly 8, primary, autosomal recessive?", "seeds": [ "Microcephaly 8, primary, autosomal recessive" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05481", "question": "What is associated with Coloboma?", "seeds": [ "Coloboma" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05482", "question": "What is associated with Hypotrichosis and recurrent skin vesicles?", "seeds": [ "Hypotrichosis and recurrent skin vesicles" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05483", "question": "What phenotype is associated with Fetal akinesia deformation sequence 3?", "seeds": [ "Fetal akinesia deformation sequence 3" ], "gold_answer": "Short neck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05484", "question": "What is associated with Radiculomegaly?", "seeds": [ "Radiculomegaly" ], "gold_answer": "Abnormal dental root morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05485", "question": "What is associated with Lactescent serum?", "seeds": [ "Lactescent serum" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05486", "question": "What phenotype is associated with Sertoli cell-only syndrome?", "seeds": [ "Sertoli cell-only syndrome" ], "gold_answer": "Sertoli cell-only phenotype", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05487", "question": "What is associated with 9q31.1q31.3 microdeletion syndrome?", "seeds": [ "9q31.1q31.3 microdeletion syndrome" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the thorax", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05488", "question": "What is associated with Nuclear cataract?", "seeds": [ "Nuclear cataract" ], "gold_answer": "Zonular cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05489", "question": "What is associated with Mitochondrial complex II deficiency, nuclear type 4?", "seeds": [ "Mitochondrial complex II deficiency, nuclear type 4" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05490", "question": "What is associated with Addictive methylphenidate use?", "seeds": [ "Addictive methylphenidate use" ], "gold_answer": "Addictive stimulant use", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05491", "question": "What is associated with Diminished circulating hyaluronidase activity?", "seeds": [ "Diminished circulating hyaluronidase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05492", "question": "What is associated with Schnitzler syndrome?", "seeds": [ "Schnitzler syndrome" ], "gold_answer": "Hematological neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05493", "question": "What is associated with Toe phalanx fracture?", "seeds": [ "Toe phalanx fracture" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05494", "question": "What phenotype is associated with Spermatogenic failure, X-linked, 7?", "seeds": [ "Spermatogenic failure, X-linked, 7" ], "gold_answer": "Multiflagellar spermatozoa", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05495", "question": "What is associated with Insulin-Like growth factor I deficiency?", "seeds": [ "Insulin-Like growth factor I deficiency" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05496", "question": "What is associated with X-linked intellectual disability-cubitus valgus-dysmorphism syndrome?", "seeds": [ "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome" ], "gold_answer": "Slanting of the palpebral fissure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05497", "question": "What is associated with Neonatal bilateral clonic seizure?", "seeds": [ "Neonatal bilateral clonic seizure" ], "gold_answer": "Neonatal electro-clinical seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05498", "question": "What is associated with Patchy osteosclerosis?", "seeds": [ "Patchy osteosclerosis" ], "gold_answer": "Patchy changes of bone mineral density", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05499", "question": "What is associated with MHC class I deficiency 2?", "seeds": [ "MHC class I deficiency 2" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05500", "question": "What is associated with Scapuloperoneal spinal muscular atrophy?", "seeds": [ "Scapuloperoneal spinal muscular atrophy" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05501", "question": "What is associated with Acrodermatitis continua of Hallopeau?", "seeds": [ "Acrodermatitis continua of Hallopeau" ], "gold_answer": "IL36RN", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_05502", "question": "What is associated with Perilobular?", "seeds": [ "Perilobular" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05503", "question": "What is associated with Mitochondrial complex II deficiency, nuclear type 4?", "seeds": [ "Mitochondrial complex II deficiency, nuclear type 4" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05504", "question": "What phenotype is associated with Schizophrenia 4?", "seeds": [ "Schizophrenia 4" ], "gold_answer": "Hyperprolinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05505", "question": "What phenotype is associated with Bile acid synthesis defect, congenital, 5?", "seeds": [ "Bile acid synthesis defect, congenital, 5" ], "gold_answer": "Prolonged partial thromboplastin time", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05506", "question": "What phenotype is associated with BRESEK syndrome?", "seeds": [ "BRESEK syndrome" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05507", "question": "What is associated with Spastic paraplegia 53, autosomal recessive?", "seeds": [ "Spastic paraplegia 53, autosomal recessive" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05508", "question": "What is associated with History of high-pressure injection injury of the hand?", "seeds": [ "History of high-pressure injection injury of the hand" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05509", "question": "What is associated with Aplasia/Hypoplasia of the 3rd toe?", "seeds": [ "Aplasia/Hypoplasia of the 3rd toe" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05510", "question": "What is associated with Zygomycosis?", "seeds": [ "Zygomycosis" ], "gold_answer": "Abnormal glucose homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05511", "question": "What is associated with Prominent nasal septum?", "seeds": [ "Prominent nasal septum" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05512", "question": "What is associated with Decreased circulating transcobalamin II concentration?", "seeds": [ "Decreased circulating transcobalamin II concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05513", "question": "What is associated with Supernumerary metacarpal bones?", "seeds": [ "Supernumerary metacarpal bones" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05514", "question": "What is associated with Usher syndrome, type IF?", "seeds": [ "Usher syndrome, type IF" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05515", "question": "What is associated with Abnormality of the epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Abnormality of the epiphysis of the proximal phalanx of the 4th finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05516", "question": "What is associated with 2p25.3 microduplication syndrome?", "seeds": [ "2p25.3 microduplication syndrome" ], "gold_answer": "MYT1L", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "role_in_the_phenotype_of" } }, { "query_id": "orph_train_05517", "question": "What is associated with Triggered by allopurinol?", "seeds": [ "Triggered by allopurinol" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05518", "question": "What is associated with Paroxysmal dyspnea?", "seeds": [ "Paroxysmal dyspnea" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05519", "question": "What is associated with Elevated double-negative T cell proportion?", "seeds": [ "Elevated double-negative T cell proportion" ], "gold_answer": "Abnormal double-negative T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05520", "question": "What is associated with Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency?", "seeds": [ "Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency" ], "gold_answer": "Abnormal neutrophil morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05521", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 89?", "seeds": [ "Intellectual developmental disorder, X-linked 89" ], "gold_answer": "Generalized myoclonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05522", "question": "What is associated with Palmaris longus muscle, absence of?", "seeds": [ "Palmaris longus muscle, absence of" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05523", "question": "What is associated with Pulmonary nodule?", "seeds": [ "Pulmonary nodule" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05524", "question": "What is associated with Chronic hemolytic anemia?", "seeds": [ "Chronic hemolytic anemia" ], "gold_answer": "Anemia due to reduced life span of red cells", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05525", "question": "What is associated with Round humeral epiphyses?", "seeds": [ "Round humeral epiphyses" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05526", "question": "What is associated with Warsaw breakage syndrome?", "seeds": [ "Warsaw breakage syndrome" ], "gold_answer": "Syndactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05527", "question": "What is associated with Precocious puberty?", "seeds": [ "Precocious puberty" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05528", "question": "What is associated with Hallux valgus?", "seeds": [ "Hallux valgus" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05529", "question": "What is associated with Abnormal glomerular filtration rate?", "seeds": [ "Abnormal glomerular filtration rate" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05530", "question": "What is associated with Generalized juvenile polyposis/juvenile polyposis coli?", "seeds": [ "Generalized juvenile polyposis/juvenile polyposis coli" ], "gold_answer": "Bloody diarrhea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05531", "question": "What is associated with Decreased glucosephosphate isomerase level?", "seeds": [ "Decreased glucosephosphate isomerase level" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05532", "question": "What is associated with Elevated urine 3-hydroxypropionic acid level?", "seeds": [ "Elevated urine 3-hydroxypropionic acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05533", "question": "What is associated with Progressive calcification of costochondral cartilage?", "seeds": [ "Progressive calcification of costochondral cartilage" ], "gold_answer": "Calcification of cartilage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05534", "question": "What phenotype is associated with Neutropenia, severe congenital, 8, autosomal dominant?", "seeds": [ "Neutropenia, severe congenital, 8, autosomal dominant" ], "gold_answer": "Exocrine pancreatic insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05535", "question": "What is associated with Anti-centromere antibody positivity?", "seeds": [ "Anti-centromere antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05536", "question": "What is associated with Radioulnar synostosis-microcephaly-scoliosis syndrome?", "seeds": [ "Radioulnar synostosis-microcephaly-scoliosis syndrome" ], "gold_answer": "Limited elbow movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05537", "question": "What is associated with Elevated circulating sebacic acid concentration?", "seeds": [ "Elevated circulating sebacic acid concentration" ], "gold_answer": "Abnormal circulating dicarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05538", "question": "What is associated with Absent aortic valve cusps?", "seeds": [ "Absent aortic valve cusps" ], "gold_answer": "Abnormal aortic valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05539", "question": "What is associated with Lethal Kniest-like dysplasia?", "seeds": [ "Lethal Kniest-like dysplasia" ], "gold_answer": "Limb undergrowth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05540", "question": "What is associated with Mowat-Wilson syndrome?", "seeds": [ "Mowat-Wilson syndrome" ], "gold_answer": "Non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05541", "question": "What is associated with Chiari malformation?", "seeds": [ "Chiari malformation" ], "gold_answer": "Abnormal hindbrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05542", "question": "What is associated with Parageusia?", "seeds": [ "Parageusia" ], "gold_answer": "Abnormality of the tongue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05543", "question": "What is associated with Spastic triplegia?", "seeds": [ "Spastic triplegia" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05544", "question": "What is associated with Cortical radial artery hypercellularity?", "seeds": [ "Cortical radial artery hypercellularity" ], "gold_answer": "Abnormal intrarenal artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05545", "question": "What phenotype is associated with Kasabach-Merritt phenomenon?", "seeds": [ "Kasabach-Merritt phenomenon" ], "gold_answer": "Hypertrichosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05546", "question": "What is associated with Increased pulmonary capillary wedge pressure?", "seeds": [ "Increased pulmonary capillary wedge pressure" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05547", "question": "What is associated with Abnormal cellular physiology?", "seeds": [ "Abnormal cellular physiology" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05548", "question": "What is associated with Ophthalmoparesis?", "seeds": [ "Ophthalmoparesis" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05549", "question": "What is associated with Abnormality of the pancreatic islet cells?", "seeds": [ "Abnormality of the pancreatic islet cells" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05550", "question": "What is associated with Increased fibular diameter?", "seeds": [ "Increased fibular diameter" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05551", "question": "What is associated with Reduced circulating aspartate aminotransferase concentration?", "seeds": [ "Reduced circulating aspartate aminotransferase concentration" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05552", "question": "What phenotype is associated with Congenital syphilis?", "seeds": [ "Congenital syphilis" ], "gold_answer": "Petechiae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05553", "question": "What phenotype is associated with Microcephaly-cardiac defect-lung malsegmentation syndrome?", "seeds": [ "Microcephaly-cardiac defect-lung malsegmentation syndrome" ], "gold_answer": "Abnormal lung lobation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05554", "question": "What is associated with Cold-induced sweating?", "seeds": [ "Cold-induced sweating" ], "gold_answer": "Abnormality of skin adnexa physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05555", "question": "What is associated with Increased female libido?", "seeds": [ "Increased female libido" ], "gold_answer": "Abnormal female reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05556", "question": "What is associated with Cervical myelopathy?", "seeds": [ "Cervical myelopathy" ], "gold_answer": "Closed neural tube defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05557", "question": "What is associated with Unstable beta globin chain variant disease?", "seeds": [ "Unstable beta globin chain variant disease" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05558", "question": "What is associated with Stage 5 chronic kidney disease?", "seeds": [ "Stage 5 chronic kidney disease" ], "gold_answer": "Renal insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05559", "question": "What phenotype is associated with Xp22.3 microdeletion syndrome?", "seeds": [ "Xp22.3 microdeletion syndrome" ], "gold_answer": "Ectopic anus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05560", "question": "What is associated with Post-vaccination polio?", "seeds": [ "Post-vaccination polio" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05561", "question": "What is associated with Aplasia/Hypoplasia of the maxilla?", "seeds": [ "Aplasia/Hypoplasia of the maxilla" ], "gold_answer": "Abnormal maxilla morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05562", "question": "What is associated with Pulmonary arterial atherosclerosis?", "seeds": [ "Pulmonary arterial atherosclerosis" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05563", "question": "What is associated with Spondylocostal dysostosis 3, autosomal recessive?", "seeds": [ "Spondylocostal dysostosis 3, autosomal recessive" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05564", "question": "What is associated with Abnormality of cerebrosidase metabolism?", "seeds": [ "Abnormality of cerebrosidase metabolism" ], "gold_answer": "Abnormality of glycolipid metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05565", "question": "What is associated with Severe cytomegalovirus infection?", "seeds": [ "Severe cytomegalovirus infection" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05566", "question": "What is associated with Symphalangism, proximal, 1A?", "seeds": [ "Symphalangism, proximal, 1A" ], "gold_answer": "Short metacarpal", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05567", "question": "What phenotype is associated with Autoimmune disease, susceptibility to, 1?", "seeds": [ "Autoimmune disease, susceptibility to, 1" ], "gold_answer": "Hashimoto thyroiditis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05568", "question": "What is associated with Autosomal recessive spastic paraplegia type 44?", "seeds": [ "Autosomal recessive spastic paraplegia type 44" ], "gold_answer": "Abnormality of peripheral nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05569", "question": "What phenotype is associated with Agenesis of corpus callosum, cardiac, ocular, and genital syndrome?", "seeds": [ "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05570", "question": "What is associated with Laryngeal stenosis?", "seeds": [ "Laryngeal stenosis" ], "gold_answer": "Abnormality of the larynx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05571", "question": "What is associated with Premature ovarian failure 8?", "seeds": [ "Premature ovarian failure 8" ], "gold_answer": "Hyperpituitarism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05572", "question": "What is associated with Abnormal lymph-node marginal or mantle zone morphology?", "seeds": [ "Abnormal lymph-node marginal or mantle zone morphology" ], "gold_answer": "Abnormal lymph-node biospecimen", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05573", "question": "What is associated with Glomerular basement membrane lamellation?", "seeds": [ "Glomerular basement membrane lamellation" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05574", "question": "What is associated with Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency?", "seeds": [ "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" ], "gold_answer": "BCKDK", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_05575", "question": "What is associated with Decreased circulating complement component 1s concentration?", "seeds": [ "Decreased circulating complement component 1s concentration" ], "gold_answer": "Reduced circulating complement concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05576", "question": "What phenotype is associated with Oocyte/zygote/embryo maturation arrest 24?", "seeds": [ "Oocyte/zygote/embryo maturation arrest 24" ], "gold_answer": "Embryo developmental arrest", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05577", "question": "What is associated with Atypical absence status epilepticus?", "seeds": [ "Atypical absence status epilepticus" ], "gold_answer": "Status epilepticus without prominent motor symptoms", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05578", "question": "What is associated with Wieacker-Wolff syndrome?", "seeds": [ "Wieacker-Wolff syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05579", "question": "What is associated with X-linked combined immunodeficiency due to SASH3 deficiency?", "seeds": [ "X-linked combined immunodeficiency due to SASH3 deficiency" ], "gold_answer": "SASH3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_05580", "question": "What is associated with Enlarged semicircular canal?", "seeds": [ "Enlarged semicircular canal" ], "gold_answer": "Abnormal inner ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05581", "question": "What is associated with Very long chain acyl-CoA dehydrogenase deficiency?", "seeds": [ "Very long chain acyl-CoA dehydrogenase deficiency" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05582", "question": "What is associated with Sarcoma?", "seeds": [ "Sarcoma" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05583", "question": "What is associated with Increased QRS voltage?", "seeds": [ "Increased QRS voltage" ], "gold_answer": "Abnormal QRS complex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05584", "question": "What is associated with Narrow maxilla?", "seeds": [ "Narrow maxilla" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05585", "question": "What is associated with Skeletal muscle fibrosis?", "seeds": [ "Skeletal muscle fibrosis" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05586", "question": "What is associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1?", "seeds": [ "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05587", "question": "What is associated with Sandhoff disease, infantile form?", "seeds": [ "Sandhoff disease, infantile form" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05588", "question": "What is associated with Pyknoachondrogenesis?", "seeds": [ "Pyknoachondrogenesis" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05589", "question": "What is associated with Renal interstitial plasma cell infiltration?", "seeds": [ "Renal interstitial plasma cell infiltration" ], "gold_answer": "Abnormal renal interstitial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05590", "question": "What is associated with Facial nerve compression?", "seeds": [ "Facial nerve compression" ], "gold_answer": "Abnormal cranial nerve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05591", "question": "What phenotype is associated with Hemolytic anemia due to glutathione reductase deficiency?", "seeds": [ "Hemolytic anemia due to glutathione reductase deficiency" ], "gold_answer": "Fava bean-induced hemolytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05592", "question": "What is associated with Abnormal finger flexion crease?", "seeds": [ "Abnormal finger flexion crease" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05593", "question": "What is associated with Subendothelial glomerular basement membrane electron dense deposits?", "seeds": [ "Subendothelial glomerular basement membrane electron dense deposits" ], "gold_answer": "Glomerular basement membrane electron dense deposits", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05594", "question": "What is associated with Vulto-van Silfout-de Vries syndrome?", "seeds": [ "Vulto-van Silfout-de Vries syndrome" ], "gold_answer": "Sacrococcygeal pilonidal abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05595", "question": "What is associated with Polycystic kidney disease 4 with or without polycystic liver disease?", "seeds": [ "Polycystic kidney disease 4 with or without polycystic liver disease" ], "gold_answer": "Abnormal abdomen morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05596", "question": "What phenotype is associated with Dopamine beta-hydroxylase, plasma, thermolability of?", "seeds": [ "Dopamine beta-hydroxylase, plasma, thermolability of" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05597", "question": "What is associated with Aplasia/Hypoplasia of the biceps?", "seeds": [ "Aplasia/Hypoplasia of the biceps" ], "gold_answer": "Abnormality of the musculature of the upper arm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05598", "question": "What is associated with Abnormal metacarpal ossification?", "seeds": [ "Abnormal metacarpal ossification" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05599", "question": "What is associated with Triggered by nickel?", "seeds": [ "Triggered by nickel" ], "gold_answer": "Triggered by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05600", "question": "What is associated with Postinfectious vasculitis?", "seeds": [ "Postinfectious vasculitis" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05601", "question": "What is associated with Positive bloodstream plasmodium falciparum nucleic acid pathogen test?", "seeds": [ "Positive bloodstream plasmodium falciparum nucleic acid pathogen test" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05602", "question": "What is associated with Bradypnea?", "seeds": [ "Bradypnea" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05603", "question": "What is associated with Abnormal central sensory function?", "seeds": [ "Abnormal central sensory function" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05604", "question": "What is associated with Phalangeal dislocation?", "seeds": [ "Phalangeal dislocation" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05605", "question": "What phenotype is associated with Long QT syndrome 1?", "seeds": [ "Long QT syndrome 1" ], "gold_answer": "Syncope", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05606", "question": "What phenotype is associated with Febrile seizures, familial, 8?", "seeds": [ "Febrile seizures, familial, 8" ], "gold_answer": "Generalized non-motor (absence) seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05607", "question": "What is associated with Abnormal cardiac catheterization?", "seeds": [ "Abnormal cardiac catheterization" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05608", "question": "What is associated with Abnormal sweat homeostasis?", "seeds": [ "Abnormal sweat homeostasis" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05609", "question": "What phenotype is associated with Thrombophilia, hereditary, due to protein S deficiency, autosomal?", "seeds": [ "Thrombophilia, hereditary, due to protein S deficiency, autosomal" ], "gold_answer": "Cerebral venous thrombosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05610", "question": "What is associated with Patchy sclerosis of the distal phalanx of the 4th toe?", "seeds": [ "Patchy sclerosis of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormal distal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05611", "question": "What is associated with Hereditary late-onset Parkinson disease?", "seeds": [ "Hereditary late-onset Parkinson disease" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05612", "question": "What is associated with Abnormal sweat electrolytes?", "seeds": [ "Abnormal sweat electrolytes" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05613", "question": "What is associated with Medially deviated second toe?", "seeds": [ "Medially deviated second toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05614", "question": "What is associated with Duplication of the 1st metatarsal?", "seeds": [ "Duplication of the 1st metatarsal" ], "gold_answer": "Duplication of metatarsal bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05615", "question": "What is associated with Abnormal circulating sarcosine concentration?", "seeds": [ "Abnormal circulating sarcosine concentration" ], "gold_answer": "Abnormal circulating serine family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05616", "question": "What is associated with Congenital cataracts-facial dysmorphism-neuropathy syndrome?", "seeds": [ "Congenital cataracts-facial dysmorphism-neuropathy syndrome" ], "gold_answer": "Kinetic tremor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05617", "question": "What is associated with Abnormality of the abdominal organs?", "seeds": [ "Abnormality of the abdominal organs" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05618", "question": "What is associated with Short greater sciatic notch?", "seeds": [ "Short greater sciatic notch" ], "gold_answer": "Abnormal greater sciatic notch morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05619", "question": "What is associated with Curved middle phalanx of the 2nd toe?", "seeds": [ "Curved middle phalanx of the 2nd toe" ], "gold_answer": "Abnormality of the middle phalanx of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05620", "question": "What is associated with Agenesis of pulmonary vessels?", "seeds": [ "Agenesis of pulmonary vessels" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05621", "question": "What is associated with Germinal centers with absent marginal zones?", "seeds": [ "Germinal centers with absent marginal zones" ], "gold_answer": "Abnormal lymph-node marginal or mantle zone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05622", "question": "What is associated with Abnormal brain morphology?", "seeds": [ "Abnormal brain morphology" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05623", "question": "What phenotype is associated with Neutropenia, severe congenital, X-linked?", "seeds": [ "Neutropenia, severe congenital, X-linked" ], "gold_answer": "Decreased total monocyte count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05624", "question": "What is associated with Abnormal form of the vertebral bodies?", "seeds": [ "Abnormal form of the vertebral bodies" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05625", "question": "What phenotype is associated with Cyclic vomiting syndrome?", "seeds": [ "Cyclic vomiting syndrome" ], "gold_answer": "Pallor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05626", "question": "What phenotype is associated with Chromosome 20q11-q12 deletion syndrome?", "seeds": [ "Chromosome 20q11-q12 deletion syndrome" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05627", "question": "What phenotype is associated with Atrioventricular septal defect 5?", "seeds": [ "Atrioventricular septal defect 5" ], "gold_answer": "Muscular ventricular septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05628", "question": "What is associated with Positive Quantiferon tuberculosis test?", "seeds": [ "Positive Quantiferon tuberculosis test" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05629", "question": "What is associated with Elevated CSF myelin basic protein concentration?", "seeds": [ "Elevated CSF myelin basic protein concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05630", "question": "What is associated with Abnormal radial metaphysis morphology?", "seeds": [ "Abnormal radial metaphysis morphology" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05631", "question": "What is associated with Pachydermodactyly, familial?", "seeds": [ "Pachydermodactyly, familial" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05632", "question": "What is associated with Cardiomyopathy?", "seeds": [ "Cardiomyopathy" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05633", "question": "What is associated with von Willebrand disease, type 3?", "seeds": [ "von Willebrand disease, type 3" ], "gold_answer": "Prolonged bleeding following procedure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05634", "question": "What is associated with Agenesis of maxillary incisor?", "seeds": [ "Agenesis of maxillary incisor" ], "gold_answer": "Abnormal number of teeth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05635", "question": "What is associated with Microcephaly 4, primary, autosomal recessive?", "seeds": [ "Microcephaly 4, primary, autosomal recessive" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05636", "question": "What is associated with Prostate cancer, hereditary, X-linked 1?", "seeds": [ "Prostate cancer, hereditary, X-linked 1" ], "gold_answer": "Prostate neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05637", "question": "What is associated with Conjunctival fornix foreshortening?", "seeds": [ "Conjunctival fornix foreshortening" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05638", "question": "What is associated with Neutropenia, severe congenital, 1, autosomal dominant?", "seeds": [ "Neutropenia, severe congenital, 1, autosomal dominant" ], "gold_answer": "Abnormal total eosinophil count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05639", "question": "What is associated with Right ventricular noncompaction cardiomyopathy?", "seeds": [ "Right ventricular noncompaction cardiomyopathy" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05640", "question": "What is associated with Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05641", "question": "What is associated with Freckling?", "seeds": [ "Freckling" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05642", "question": "What is associated with Inferior lens subluxation?", "seeds": [ "Inferior lens subluxation" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05643", "question": "What is associated with Decreased level of platelet-activating factor?", "seeds": [ "Decreased level of platelet-activating factor" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05644", "question": "What is associated with Renal arteriole intima/media necrosis?", "seeds": [ "Renal arteriole intima/media necrosis" ], "gold_answer": "Abnormal renal arteriole morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05645", "question": "What is associated with Abnormality of the middle ear ossicles?", "seeds": [ "Abnormality of the middle ear ossicles" ], "gold_answer": "Abnormal middle ear morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05646", "question": "What phenotype is associated with Nevus flammeus of nape of neck?", "seeds": [ "Nevus flammeus of nape of neck" ], "gold_answer": "Nevus flammeus nuchae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05647", "question": "What phenotype is associated with Pontocerebellar hypoplasia, type 2A?", "seeds": [ "Pontocerebellar hypoplasia, type 2A" ], "gold_answer": "Optic atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05648", "question": "What is associated with Circulating immune complexes?", "seeds": [ "Circulating immune complexes" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05649", "question": "What phenotype is associated with Fanconi anemia, complementation group S?", "seeds": [ "Fanconi anemia, complementation group S" ], "gold_answer": "Low anterior hairline", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05650", "question": "What is associated with Urinary bladder mass?", "seeds": [ "Urinary bladder mass" ], "gold_answer": "Abnormal bladder morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05651", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05652", "question": "What is associated with Glioma susceptibility 2?", "seeds": [ "Glioma susceptibility 2" ], "gold_answer": "Ophthalmoparesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05653", "question": "What is associated with Reduced respiratory ciliary beating frequency?", "seeds": [ "Reduced respiratory ciliary beating frequency" ], "gold_answer": "Abnormal respiratory motile cilium physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05654", "question": "What is associated with Irregular respiration?", "seeds": [ "Irregular respiration" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05655", "question": "What is associated with Absent scaphoid?", "seeds": [ "Absent scaphoid" ], "gold_answer": "Aplasia/hypoplasia involving bones of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05656", "question": "What is associated with Neurodevelopmental disorder with seizures and speech and walking impairment?", "seeds": [ "Neurodevelopmental disorder with seizures and speech and walking impairment" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05657", "question": "What is associated with Spastic paraplegia 30, autosomal recessive?", "seeds": [ "Spastic paraplegia 30, autosomal recessive" ], "gold_answer": "Impaired vibratory sensation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05658", "question": "What is associated with ANDROSTENONE, ABILITY TO SMELL?", "seeds": [ "ANDROSTENONE, ABILITY TO SMELL" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05659", "question": "What is associated with Vaginal hydrocele?", "seeds": [ "Vaginal hydrocele" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05660", "question": "What phenotype is associated with Microcephalic osteodysplastic primordial dwarfism types I and III?", "seeds": [ "Microcephalic osteodysplastic primordial dwarfism types I and III" ], "gold_answer": "Cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05661", "question": "What is associated with Atrial fibrillation, familial, 13?", "seeds": [ "Atrial fibrillation, familial, 13" ], "gold_answer": "Atrial arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05662", "question": "What is associated with Hypokalemic hypochloremic metabolic alkalosis?", "seeds": [ "Hypokalemic hypochloremic metabolic alkalosis" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05663", "question": "What is associated with Attenuation of retinal blood vessels?", "seeds": [ "Attenuation of retinal blood vessels" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05664", "question": "What is associated with Focal aware motor seizure with dystonia?", "seeds": [ "Focal aware motor seizure with dystonia" ], "gold_answer": "Focal aware motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05665", "question": "What is associated with Rapidly progressive?", "seeds": [ "Rapidly progressive" ], "gold_answer": "Progressive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05666", "question": "What phenotype is associated with Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias?", "seeds": [ "Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias" ], "gold_answer": "Absent specific antibody response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05667", "question": "What is associated with Tessier number 5 facial cleft?", "seeds": [ "Tessier number 5 facial cleft" ], "gold_answer": "Tessier cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05668", "question": "What is associated with Abnormality of Krebs cycle metabolism?", "seeds": [ "Abnormality of Krebs cycle metabolism" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05669", "question": "What is associated with Holster sign?", "seeds": [ "Holster sign" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05670", "question": "What is associated with Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin?", "seeds": [ "Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05671", "question": "What phenotype is associated with Complement component 8 deficiency, type I?", "seeds": [ "Complement component 8 deficiency, type I" ], "gold_answer": "Thrombocytopenia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05672", "question": "What phenotype is associated with Pseudoatrophoderma colli?", "seeds": [ "Pseudoatrophoderma colli" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05673", "question": "What is associated with White streaks/specks on enamel.?", "seeds": [ "White streaks/specks on enamel." ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05674", "question": "What is associated with Abnormal blood carbon dioxide level?", "seeds": [ "Abnormal blood carbon dioxide level" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05675", "question": "What phenotype is associated with Autosomal recessive centronuclear myopathy?", "seeds": [ "Autosomal recessive centronuclear myopathy" ], "gold_answer": "Long fingers", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05676", "question": "What is associated with Metaphyseal dysplasia?", "seeds": [ "Metaphyseal dysplasia" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05677", "question": "What is associated with Intellectual developmental disorder, X-linked syndromic, Raymond type?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic, Raymond type" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05678", "question": "What is associated with Tessadori-van Haaften neurodevelopmental syndrome 2?", "seeds": [ "Tessadori-van Haaften neurodevelopmental syndrome 2" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05679", "question": "What is associated with Metaphyseal chondromatosis of ulna?", "seeds": [ "Metaphyseal chondromatosis of ulna" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05680", "question": "What is associated with Cardiomyopathy, dilated, with woolly hair and keratoderma?", "seeds": [ "Cardiomyopathy, dilated, with woolly hair and keratoderma" ], "gold_answer": "Hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05681", "question": "What phenotype is associated with Autosomal dominant progressive external ophthalmoplegia?", "seeds": [ "Autosomal dominant progressive external ophthalmoplegia" ], "gold_answer": "Difficulty climbing stairs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05682", "question": "What is associated with Elevated urinary pipecolic acid level?", "seeds": [ "Elevated urinary pipecolic acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05683", "question": "What phenotype is associated with Presynaptic congenital myasthenic syndromes?", "seeds": [ "Presynaptic congenital myasthenic syndromes" ], "gold_answer": "Motor polyneuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05684", "question": "What is associated with Class I glucose-6-phosphate dehydrogenase deficiency?", "seeds": [ "Class I glucose-6-phosphate dehydrogenase deficiency" ], "gold_answer": "G6PD", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_05685", "question": "What is associated with Cone-shaped epiphyses of the phalanges of the hand?", "seeds": [ "Cone-shaped epiphyses of the phalanges of the hand" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05686", "question": "What is associated with Developmental and epileptic encephalopathy 109?", "seeds": [ "Developmental and epileptic encephalopathy 109" ], "gold_answer": "Focal motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05687", "question": "What is associated with 3-methylglutaconic aciduria, type IX?", "seeds": [ "3-methylglutaconic aciduria, type IX" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05688", "question": "What is associated with 3-4 toe cutaneous syndactyly?", "seeds": [ "3-4 toe cutaneous syndactyly" ], "gold_answer": "Cutaneous syndactyly of toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05689", "question": "What is associated with Ash-leaf spot?", "seeds": [ "Ash-leaf spot" ], "gold_answer": "Hypopigmented macule", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05690", "question": "What is associated with Vaginal hernia?", "seeds": [ "Vaginal hernia" ], "gold_answer": "Abnormal vagina morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05691", "question": "What is associated with Long palm?", "seeds": [ "Long palm" ], "gold_answer": "Abnormal palm morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05692", "question": "What is associated with Spermatogenic failure 102?", "seeds": [ "Spermatogenic failure 102" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05693", "question": "What is associated with Anomalous origin of coronary artery from the pulmonary artery?", "seeds": [ "Anomalous origin of coronary artery from the pulmonary artery" ], "gold_answer": "Abnormal coronary artery origin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05694", "question": "What is associated with Abnormal cellular immune system morphology?", "seeds": [ "Abnormal cellular immune system morphology" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05695", "question": "What is associated with Gastroesophageal reflux?", "seeds": [ "Gastroesophageal reflux" ], "gold_answer": "Neoplasm of head and neck", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05696", "question": "What is associated with Neurite dystrophy?", "seeds": [ "Neurite dystrophy" ], "gold_answer": "Abnormal neuron morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05697", "question": "What phenotype is associated with Mucopolysaccharidosis type IVB (Morquio)?", "seeds": [ "Mucopolysaccharidosis type IVB (Morquio)" ], "gold_answer": "Cervical subluxation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05698", "question": "What is associated with Hypersegmentation of proximal phalanx of third finger?", "seeds": [ "Hypersegmentation of proximal phalanx of third finger" ], "gold_answer": "Abnormality of the proximal phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05699", "question": "What is associated with Arcuate vein intima/medial amyloidosis?", "seeds": [ "Arcuate vein intima/medial amyloidosis" ], "gold_answer": "Abnormal arcuate vein morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05700", "question": "What is associated with Abnormal KCO?", "seeds": [ "Abnormal KCO" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05701", "question": "What is associated with Meier-Gorlin syndrome 8?", "seeds": [ "Meier-Gorlin syndrome 8" ], "gold_answer": "Abnormal localization of kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05702", "question": "What is associated with Anti-SARS-CoV-2 coronavirus antibody positivity?", "seeds": [ "Anti-SARS-CoV-2 coronavirus antibody positivity" ], "gold_answer": "Bloodstream virus-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05703", "question": "What is associated with Oxoglutarate dehydrogenase deficiency?", "seeds": [ "Oxoglutarate dehydrogenase deficiency" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05704", "question": "What is associated with Bowing of limbs due to multiple fractures?", "seeds": [ "Bowing of limbs due to multiple fractures" ], "gold_answer": "Increased susceptibility to fractures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05705", "question": "What is associated with Myopathy, myofibrillar, 3?", "seeds": [ "Myopathy, myofibrillar, 3" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05706", "question": "What phenotype is associated with Microcephaly 8, primary, autosomal recessive?", "seeds": [ "Microcephaly 8, primary, autosomal recessive" ], "gold_answer": "Retrognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05707", "question": "What phenotype is associated with Complete androgen insensitivity syndrome?", "seeds": [ "Complete androgen insensitivity syndrome" ], "gold_answer": "Male infertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05708", "question": "What is associated with Sterile arthritis?", "seeds": [ "Sterile arthritis" ], "gold_answer": "Arthritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05709", "question": "What phenotype is associated with Cowden syndrome 6?", "seeds": [ "Cowden syndrome 6" ], "gold_answer": "Breast carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05710", "question": "What is associated with Insulin-dependent but ketosis-resistant diabetes?", "seeds": [ "Insulin-dependent but ketosis-resistant diabetes" ], "gold_answer": "Diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05711", "question": "What is associated with Wilms tumor 5?", "seeds": [ "Wilms tumor 5" ], "gold_answer": "H19", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "role_in_the_phenotype_of" } }, { "query_id": "orph_train_05712", "question": "What is associated with Triangular shaped proximal phalanx of the thumb?", "seeds": [ "Triangular shaped proximal phalanx of the thumb" ], "gold_answer": "Triangular shaped middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05713", "question": "What is associated with Houge-Janssens syndrome 4?", "seeds": [ "Houge-Janssens syndrome 4" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05714", "question": "What is associated with Localized soft-tissue swelling on extremity?", "seeds": [ "Localized soft-tissue swelling on extremity" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05715", "question": "What is associated with Pancreatic pseudocyst?", "seeds": [ "Pancreatic pseudocyst" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05716", "question": "What is associated with Fractured proximal phalanx of pedal digit 1?", "seeds": [ "Fractured proximal phalanx of pedal digit 1" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05717", "question": "What phenotype is associated with Parathyroid carcinoma?", "seeds": [ "Parathyroid carcinoma" ], "gold_answer": "Nephroblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05718", "question": "What is associated with Second finger symphalangism?", "seeds": [ "Second finger symphalangism" ], "gold_answer": "Abnormality of the phalanges of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05719", "question": "What is associated with Anti-GD1a IgM antibody positivity?", "seeds": [ "Anti-GD1a IgM antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05720", "question": "What is associated with Reduced impulse control?", "seeds": [ "Reduced impulse control" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05721", "question": "What is associated with Tetraplegia?", "seeds": [ "Tetraplegia" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05722", "question": "What is associated with Hypogonadotropic hypogonadism 10 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 10 with or without anosmia" ], "gold_answer": "Abnormal circulating testosterone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05723", "question": "What is associated with Agammaglobulinemia 9, autosomal recessive?", "seeds": [ "Agammaglobulinemia 9, autosomal recessive" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05724", "question": "What is associated with Popcorn calcification?", "seeds": [ "Popcorn calcification" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05725", "question": "What is associated with Contractural arachnodactyly, congenital?", "seeds": [ "Contractural arachnodactyly, congenital" ], "gold_answer": "Abnormal atrioventricular valve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05726", "question": "What is associated with Epilepsy, progressive myoclonic 7?", "seeds": [ "Epilepsy, progressive myoclonic 7" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05727", "question": "What is associated with Elevated bone scintigraphy uptake?", "seeds": [ "Elevated bone scintigraphy uptake" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05728", "question": "What phenotype is associated with Respiratory papillomatosis, juvenile recurrent, congenital?", "seeds": [ "Respiratory papillomatosis, juvenile recurrent, congenital" ], "gold_answer": "Laryngeal papilloma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05729", "question": "What phenotype is associated with Pulmonary nodular lymphoid hyperplasia?", "seeds": [ "Pulmonary nodular lymphoid hyperplasia" ], "gold_answer": "Chest pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05730", "question": "What phenotype is associated with Velocardiofacial syndrome?", "seeds": [ "Velocardiofacial syndrome" ], "gold_answer": "Preauricular pit", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05731", "question": "What is associated with Lipid-laden lymph node macrophages?", "seeds": [ "Lipid-laden lymph node macrophages" ], "gold_answer": "Abnormal lymph node cell composition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05732", "question": "What is associated with Ichthyosis, congenital, autosomal recessive 9?", "seeds": [ "Ichthyosis, congenital, autosomal recessive 9" ], "gold_answer": "Hypohidrosis or hyperhidrosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05733", "question": "What is associated with Distal anoctaminopathy?", "seeds": [ "Distal anoctaminopathy" ], "gold_answer": "Elevated circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05734", "question": "What is associated with Auditory hypersensitivity?", "seeds": [ "Auditory hypersensitivity" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05735", "question": "What is associated with Night blindness, congenital stationary, autosomal dominant 3?", "seeds": [ "Night blindness, congenital stationary, autosomal dominant 3" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05736", "question": "What phenotype is associated with Ribbing disease?", "seeds": [ "Ribbing disease" ], "gold_answer": "Diaphyseal sclerosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05737", "question": "What phenotype is associated with Calcification of joints and arteries?", "seeds": [ "Calcification of joints and arteries" ], "gold_answer": "Iliac arterial calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05738", "question": "What is associated with Focal aware sensory seizure?", "seeds": [ "Focal aware sensory seizure" ], "gold_answer": "Focal aware non-motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05739", "question": "What is associated with Gottron sign?", "seeds": [ "Gottron sign" ], "gold_answer": "Macule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05740", "question": "What is associated with Cone-shaped epiphysis of the proximal phalanx of the 2nd finger?", "seeds": [ "Cone-shaped epiphysis of the proximal phalanx of the 2nd finger" ], "gold_answer": "Abnormal 2nd finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05741", "question": "What is associated with Focal impaired awareness sensory seizure with auditory features?", "seeds": [ "Focal impaired awareness sensory seizure with auditory features" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05742", "question": "What phenotype is associated with Keratoendotheliitis fugax hereditaria?", "seeds": [ "Keratoendotheliitis fugax hereditaria" ], "gold_answer": "Conjunctival hyperemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05743", "question": "What is associated with Abnormal morphology of the chest musculature?", "seeds": [ "Abnormal morphology of the chest musculature" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05744", "question": "What is associated with Fetal methamphetamine exposure?", "seeds": [ "Fetal methamphetamine exposure" ], "gold_answer": "Pregnancy history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05745", "question": "What is associated with Abnormal iliac wing morphology?", "seeds": [ "Abnormal iliac wing morphology" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05746", "question": "What is associated with Spondyloepimetaphyseal dysplasia, Li-Shao-Li type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, Li-Shao-Li type" ], "gold_answer": "Abnormality of the vertebral endplates", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05747", "question": "What is associated with Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain?", "seeds": [ "Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" ], "gold_answer": "MPZ", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_05748", "question": "What is associated with Bilateral choanal atresia?", "seeds": [ "Bilateral choanal atresia" ], "gold_answer": "Abnormal eating behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05749", "question": "What is associated with Aminoaciduria?", "seeds": [ "Aminoaciduria" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05750", "question": "What is associated with Gastric lymphoma?", "seeds": [ "Gastric lymphoma" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05751", "question": "What is associated with Decreased circulating ceruloplasmin concentration?", "seeds": [ "Decreased circulating ceruloplasmin concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05752", "question": "What is associated with Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy?", "seeds": [ "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" ], "gold_answer": "Atrophy/Degeneration involving the caudate nucleus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05753", "question": "What is associated with Cardiomyopathy, dilated, 1R?", "seeds": [ "Cardiomyopathy, dilated, 1R" ], "gold_answer": "Abnormal left ventricular end-diastolic volume", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05754", "question": "What is associated with Exodeviation?", "seeds": [ "Exodeviation" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05755", "question": "What is associated with Postmenopausal bleeding?", "seeds": [ "Postmenopausal bleeding" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05756", "question": "What is associated with Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness?", "seeds": [ "Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness" ], "gold_answer": "Abnormal epiphyseal ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05757", "question": "What is associated with Czech dysplasia, Metatarsal type?", "seeds": [ "Czech dysplasia, Metatarsal type" ], "gold_answer": "Aplasia/Hypoplasia involving the femoral head and neck", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05758", "question": "What is associated with Abnormal premolar morphology?", "seeds": [ "Abnormal premolar morphology" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05759", "question": "What is associated with Non-specific autoimmune supratentorial encephalitis with characteristic antibodies?", "seeds": [ "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05760", "question": "What is associated with Enamel pearls?", "seeds": [ "Enamel pearls" ], "gold_answer": "Abnormal dental enamel morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05761", "question": "What is associated with Triangular epiphysis of the proximal phalanx of the 2nd toe?", "seeds": [ "Triangular epiphysis of the proximal phalanx of the 2nd toe" ], "gold_answer": "Triangular epiphysis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05762", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2B?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2B" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05763", "question": "What is associated with Loud snoring?", "seeds": [ "Loud snoring" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05764", "question": "What is associated with Bracket epiphysis of the 1st metacarpal?", "seeds": [ "Bracket epiphysis of the 1st metacarpal" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05765", "question": "What is associated with Derealization?", "seeds": [ "Derealization" ], "gold_answer": "Abnormal perceptual state", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05766", "question": "What phenotype is associated with Rhabdomyosarcoma, embryonal, 2?", "seeds": [ "Rhabdomyosarcoma, embryonal, 2" ], "gold_answer": "Ptosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05767", "question": "What is associated with Congenital heart defects, multiple types, 4?", "seeds": [ "Congenital heart defects, multiple types, 4" ], "gold_answer": "Congenital malformation of the great arteries", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05768", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6" ], "gold_answer": "Abnormality of facial musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05769", "question": "What is associated with Decorticate rigidity?", "seeds": [ "Decorticate rigidity" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05770", "question": "What is associated with Hydroxylysinuria?", "seeds": [ "Hydroxylysinuria" ], "gold_answer": "Increased aspartate family amino acid level in urine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05771", "question": "What is associated with Ameliorated by pyridoxal phosphate?", "seeds": [ "Ameliorated by pyridoxal phosphate" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05772", "question": "What phenotype is associated with Late-onset distal myopathy, Markesbery-Griggs type?", "seeds": [ "Late-onset distal myopathy, Markesbery-Griggs type" ], "gold_answer": "Foot dorsiflexor weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05773", "question": "What is associated with Myopia-3?", "seeds": [ "Myopia-3" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05774", "question": "What is associated with Squamous metaplasia?", "seeds": [ "Squamous metaplasia" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05775", "question": "What is associated with Aphakia?", "seeds": [ "Aphakia" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05776", "question": "What is associated with Ullrich congenital muscular dystrophy?", "seeds": [ "Ullrich congenital muscular dystrophy" ], "gold_answer": "Limb joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05777", "question": "What is associated with Eye poking?", "seeds": [ "Eye poking" ], "gold_answer": "Stereotypic movements of face and head", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05778", "question": "What is associated with Intellectual disability-facial dysmorphism-hand anomalies syndrome?", "seeds": [ "Intellectual disability-facial dysmorphism-hand anomalies syndrome" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05779", "question": "What is associated with Muscular dystrophy, limb-girdle, type 2D?", "seeds": [ "Muscular dystrophy, limb-girdle, type 2D" ], "gold_answer": "Myopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05780", "question": "What is associated with Frontal encephalocele?", "seeds": [ "Frontal encephalocele" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05781", "question": "What is associated with Erythrocyte inclusion bodies?", "seeds": [ "Erythrocyte inclusion bodies" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05782", "question": "What is associated with Increased level of hexanoylglycine in urine?", "seeds": [ "Increased level of hexanoylglycine in urine" ], "gold_answer": "Abnormal urine hexanoylglycine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05783", "question": "What is associated with Hyperpigmented genitalia?", "seeds": [ "Hyperpigmented genitalia" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05784", "question": "What is associated with Genu recurvatum?", "seeds": [ "Genu recurvatum" ], "gold_answer": "Abnormality of the knee", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05785", "question": "What is associated with Focal autonomic seizure with pallor/flushing?", "seeds": [ "Focal autonomic seizure with pallor/flushing" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05786", "question": "What is associated with Reduced imaginative play skills?", "seeds": [ "Reduced imaginative play skills" ], "gold_answer": "Abnormal play", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05787", "question": "What is associated with Triggered by volatile organic compounds?", "seeds": [ "Triggered by volatile organic compounds" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05788", "question": "What is associated with Abnormal number of erythroid precursors?", "seeds": [ "Abnormal number of erythroid precursors" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05789", "question": "What phenotype is associated with Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia?", "seeds": [ "Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia" ], "gold_answer": "Spastic ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05790", "question": "What is associated with 1q21.1 microdeletion syndrome?", "seeds": [ "1q21.1 microdeletion syndrome" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05791", "question": "What is associated with Congenital megacalycosis?", "seeds": [ "Congenital megacalycosis" ], "gold_answer": "Abnormality of the ureter", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05792", "question": "What is associated with Best corrected visual acuity 0.9 LogMAR?", "seeds": [ "Best corrected visual acuity 0.9 LogMAR" ], "gold_answer": "Abnormal best corrected visual acuity test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05793", "question": "What phenotype is associated with Neuropathy, hereditary motor, with myopathic features?", "seeds": [ "Neuropathy, hereditary motor, with myopathic features" ], "gold_answer": "Distal lower limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05794", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 43?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 43" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05795", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05796", "question": "What is associated with Vitamin B12-unresponsive methylmalonic acidemia type mut-?", "seeds": [ "Vitamin B12-unresponsive methylmalonic acidemia type mut-" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05797", "question": "What is associated with EMG abnormality?", "seeds": [ "EMG abnormality" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05798", "question": "What is associated with 2-3 toe cutaneous syndactyly?", "seeds": [ "2-3 toe cutaneous syndactyly" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05799", "question": "What is associated with Low 1-minute APGAR score?", "seeds": [ "Low 1-minute APGAR score" ], "gold_answer": "Low APGAR score", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05800", "question": "What is associated with Mesial parasagittal subcortical heterotopia?", "seeds": [ "Mesial parasagittal subcortical heterotopia" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05801", "question": "What is associated with Familial cold autoinflammatory syndrome 4?", "seeds": [ "Familial cold autoinflammatory syndrome 4" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05802", "question": "What is associated with Discoid lupus erythematosus?", "seeds": [ "Discoid lupus erythematosus" ], "gold_answer": "Telangiectasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05803", "question": "What is associated with Hypochondriac delusion?", "seeds": [ "Hypochondriac delusion" ], "gold_answer": "Delusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05804", "question": "What is associated with Abnormality of the proximal humeral epiphysis?", "seeds": [ "Abnormality of the proximal humeral epiphysis" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05805", "question": "What is associated with Volvulus of midgut?", "seeds": [ "Volvulus of midgut" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05806", "question": "What is associated with Septate gallbladder?", "seeds": [ "Septate gallbladder" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05807", "question": "What is associated with High myopia?", "seeds": [ "High myopia" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05808", "question": "What is associated with Intention tremor?", "seeds": [ "Intention tremor" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05809", "question": "What is associated with Combined immunodeficiency due to DOCK8 deficiency?", "seeds": [ "Combined immunodeficiency due to DOCK8 deficiency" ], "gold_answer": "Papilloma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05810", "question": "What phenotype is associated with Non-syndromic unicoronal craniosynostosis?", "seeds": [ "Non-syndromic unicoronal craniosynostosis" ], "gold_answer": "Papilledema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05811", "question": "What phenotype is associated with Acne inversa, familial, 2, with or without dowling-degos disease?", "seeds": [ "Acne inversa, familial, 2, with or without dowling-degos disease" ], "gold_answer": "Squamous cell carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05812", "question": "What is associated with Abnormal glomerular parietal epithelial cell morphology?", "seeds": [ "Abnormal glomerular parietal epithelial cell morphology" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05813", "question": "What is associated with Hypoganglionosis?", "seeds": [ "Hypoganglionosis" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05814", "question": "What is associated with Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material?", "seeds": [ "Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05815", "question": "What is associated with Congenital disorder of glycosylation, type IIh?", "seeds": [ "Congenital disorder of glycosylation, type IIh" ], "gold_answer": "Aplasia/Hypoplasia of the mandible", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05816", "question": "What is associated with Angiosarcoma?", "seeds": [ "Angiosarcoma" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05817", "question": "What is associated with Focal impaired awareness sensory seizure with gustatory features?", "seeds": [ "Focal impaired awareness sensory seizure with gustatory features" ], "gold_answer": "Focal impaired awareness seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05818", "question": "What is associated with Agammaglobulinemia 8, autosomal dominant?", "seeds": [ "Agammaglobulinemia 8, autosomal dominant" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05819", "question": "What is associated with Abnormal motor neuron morphology?", "seeds": [ "Abnormal motor neuron morphology" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05820", "question": "What is associated with Radius, aplasia of, with cleft lip/palate?", "seeds": [ "Radius, aplasia of, with cleft lip/palate" ], "gold_answer": "Aplasia involving forearm bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05821", "question": "What is associated with Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome?", "seeds": [ "Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome" ], "gold_answer": "Abnormal scalp morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05822", "question": "What is associated with Atypical pulmonary carcinoid tumor?", "seeds": [ "Atypical pulmonary carcinoid tumor" ], "gold_answer": "Carcinoid tumor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05823", "question": "What is associated with Acute necrotizing encephalopathy?", "seeds": [ "Acute necrotizing encephalopathy" ], "gold_answer": "Encephalopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05824", "question": "What is associated with Abnormal amyloid beta 40 peptide CSF concentration?", "seeds": [ "Abnormal amyloid beta 40 peptide CSF concentration" ], "gold_answer": "Abnormal amyloid beta peptide CSF concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05825", "question": "What phenotype is associated with Epidermolysis bullosa acquisita?", "seeds": [ "Epidermolysis bullosa acquisita" ], "gold_answer": "Abdominal pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05826", "question": "What is associated with Small cervical vertebral bodies?", "seeds": [ "Small cervical vertebral bodies" ], "gold_answer": "Hypoplastic vertebral bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05827", "question": "What is associated with Bilateral microphthalmos?", "seeds": [ "Bilateral microphthalmos" ], "gold_answer": "Aplasia/Hypoplasia affecting the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05828", "question": "What is associated with Distal deletion 10q syndrome?", "seeds": [ "Distal deletion 10q syndrome" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05829", "question": "What is associated with Abnormal skull base morphology?", "seeds": [ "Abnormal skull base morphology" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05830", "question": "What is associated with Delayed calcaneal ossification?", "seeds": [ "Delayed calcaneal ossification" ], "gold_answer": "Abnormal tarsal ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05831", "question": "What is associated with Ameliorated by carbohydrate ingestion?", "seeds": [ "Ameliorated by carbohydrate ingestion" ], "gold_answer": "Ameliorated by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05832", "question": "What is associated with Motor delay?", "seeds": [ "Motor delay" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05833", "question": "What is associated with Abnormal nasal cartilage morphology?", "seeds": [ "Abnormal nasal cartilage morphology" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05834", "question": "What is associated with Short distal phalanx of hallux?", "seeds": [ "Short distal phalanx of hallux" ], "gold_answer": "Aplasia/Hypoplasia of the hallux", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05835", "question": "What is associated with Episodic hypoventilation?", "seeds": [ "Episodic hypoventilation" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05836", "question": "What is associated with Optic atrophy 7 with or without auditory neuropathy?", "seeds": [ "Optic atrophy 7 with or without auditory neuropathy" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05837", "question": "What is associated with Focal aware cognitive seizure with anomia?", "seeds": [ "Focal aware cognitive seizure with anomia" ], "gold_answer": "Focal aware seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05838", "question": "What phenotype is associated with Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism?", "seeds": [ "Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" ], "gold_answer": "Thin corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05839", "question": "What is associated with Triangular epiphysis of the middle phalanx of the 4th toe?", "seeds": [ "Triangular epiphysis of the middle phalanx of the 4th toe" ], "gold_answer": "Abnormality of the epiphysis of the middle phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05840", "question": "What is associated with Lessel-Kubisch syndrome?", "seeds": [ "Lessel-Kubisch syndrome" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05841", "question": "What is associated with Bifid sternum?", "seeds": [ "Bifid sternum" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05842", "question": "What is associated with Abnormal syntax?", "seeds": [ "Abnormal syntax" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05843", "question": "What is associated with Retinitis pigmentosa 49?", "seeds": [ "Retinitis pigmentosa 49" ], "gold_answer": "Abnormal retinal pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05844", "question": "What is associated with Pseudoepiphyses of the toes?", "seeds": [ "Pseudoepiphyses of the toes" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05845", "question": "What is associated with Microcephaly, epilepsy, and diabetes syndrome 2?", "seeds": [ "Microcephaly, epilepsy, and diabetes syndrome 2" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05846", "question": "What is associated with Elevated imprint of the transverse sinuses?", "seeds": [ "Elevated imprint of the transverse sinuses" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05847", "question": "What is associated with Abnormal circulating interleukin 6 concentration?", "seeds": [ "Abnormal circulating interleukin 6 concentration" ], "gold_answer": "Abnormal immune serum protein physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05848", "question": "What is associated with Increased circulating precipitin level?", "seeds": [ "Increased circulating precipitin level" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05849", "question": "What phenotype is associated with Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies?", "seeds": [ "Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies" ], "gold_answer": "Craniosynostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05850", "question": "What is associated with Low serum osmolality?", "seeds": [ "Low serum osmolality" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05851", "question": "What is associated with Febrile seizures, familial, 5?", "seeds": [ "Febrile seizures, familial, 5" ], "gold_answer": "Seizure precipitated by febrile infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05852", "question": "What is associated with Embryonal onset?", "seeds": [ "Embryonal onset" ], "gold_answer": "Onset", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05853", "question": "What is associated with Skin vesicle?", "seeds": [ "Skin vesicle" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05854", "question": "What is associated with Broad ulna?", "seeds": [ "Broad ulna" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05855", "question": "What is associated with Toe phalanx synostosis?", "seeds": [ "Toe phalanx synostosis" ], "gold_answer": "Synostosis involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05856", "question": "What is associated with Tall lumbar vertebral bodies?", "seeds": [ "Tall lumbar vertebral bodies" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05857", "question": "What is associated with Unilateral multifocal epileptiform discharges?", "seeds": [ "Unilateral multifocal epileptiform discharges" ], "gold_answer": "EEG with focal epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05858", "question": "What is associated with Thin proximal phalanges with broad epiphyses of the hand?", "seeds": [ "Thin proximal phalanges with broad epiphyses of the hand" ], "gold_answer": "Abnormal hand epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05859", "question": "What is associated with Increased circulating thyroglobulin concentration?", "seeds": [ "Increased circulating thyroglobulin concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05860", "question": "What is associated with Hermansky-Pudlak syndrome due to AP3B1 deficiency?", "seeds": [ "Hermansky-Pudlak syndrome due to AP3B1 deficiency" ], "gold_answer": "AP3B1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_05861", "question": "What is associated with Scapholunate interval widening?", "seeds": [ "Scapholunate interval widening" ], "gold_answer": "Abnormal wrist morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05862", "question": "What is associated with Tufted angioma?", "seeds": [ "Tufted angioma" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05863", "question": "What is associated with Lower extremity peripheral arterial calcification?", "seeds": [ "Lower extremity peripheral arterial calcification" ], "gold_answer": "Arterial calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05864", "question": "What is associated with Acetyl-CoA carboxylase deficiency?", "seeds": [ "Acetyl-CoA carboxylase deficiency" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05865", "question": "What is associated with Recurrent mycobacterial infections?", "seeds": [ "Recurrent mycobacterial infections" ], "gold_answer": "Recurrent bacterial infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05866", "question": "What is associated with Bullet-shaped toe phalanx?", "seeds": [ "Bullet-shaped toe phalanx" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05867", "question": "What phenotype is associated with Vitamin D-dependent rickets, type I?", "seeds": [ "Vitamin D-dependent rickets, type I" ], "gold_answer": "Renal phosphate wasting", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05868", "question": "What is associated with Increased cotinine level?", "seeds": [ "Increased cotinine level" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05869", "question": "What is associated with Abnormal left ventricular endsystolic diameter?", "seeds": [ "Abnormal left ventricular endsystolic diameter" ], "gold_answer": "Abnormal cardiac ventricular function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05870", "question": "What is associated with Fibrous dysplasia of bone?", "seeds": [ "Fibrous dysplasia of bone" ], "gold_answer": "Abnormality of the ovary", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05871", "question": "What is associated with Abnormal brainstem morphology?", "seeds": [ "Abnormal brainstem morphology" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05872", "question": "What is associated with Chronic urticaria?", "seeds": [ "Chronic urticaria" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05873", "question": "What is associated with Prolonged electroretinal response suppression 1?", "seeds": [ "Prolonged electroretinal response suppression 1" ], "gold_answer": "RGS9BP", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_05874", "question": "What is associated with Hypoplasia of the fallopian tube?", "seeds": [ "Hypoplasia of the fallopian tube" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05875", "question": "What phenotype is associated with B-cell expansion with NFKB and T-cell anergy?", "seeds": [ "B-cell expansion with NFKB and T-cell anergy" ], "gold_answer": "Increased total B cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05876", "question": "What is associated with Kayser-Fleischer ring?", "seeds": [ "Kayser-Fleischer ring" ], "gold_answer": "Corneal opacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05877", "question": "What is associated with Absent muscle fiber dysferlin?", "seeds": [ "Absent muscle fiber dysferlin" ], "gold_answer": "Abnormal muscle fiber dysferlin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05878", "question": "What is associated with Oocyte maturation defect 5?", "seeds": [ "Oocyte maturation defect 5" ], "gold_answer": "Infertility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05879", "question": "What is associated with Neurodevelopmental disorder with epilepsy and hemochromatosis?", "seeds": [ "Neurodevelopmental disorder with epilepsy and hemochromatosis" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05880", "question": "What is associated with Diaphragmatic hernia 2?", "seeds": [ "Diaphragmatic hernia 2" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05881", "question": "What is associated with Late young adult onset?", "seeds": [ "Late young adult onset" ], "gold_answer": "Onset", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05882", "question": "What is associated with Horizontal opticokinetic nystagmus?", "seeds": [ "Horizontal opticokinetic nystagmus" ], "gold_answer": "Horizontal nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05883", "question": "What phenotype is associated with Myeloproliferative syndrome, transient?", "seeds": [ "Myeloproliferative syndrome, transient" ], "gold_answer": "Increased total leukocyte count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05884", "question": "What is associated with Exacerbated by pulmonary vasodilator exposure?", "seeds": [ "Exacerbated by pulmonary vasodilator exposure" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05885", "question": "What is associated with Medial ankle pain?", "seeds": [ "Medial ankle pain" ], "gold_answer": "Ankle pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05886", "question": "What is associated with Chronic hiccup?", "seeds": [ "Chronic hiccup" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05887", "question": "What is associated with Dowling-Degos disease 3?", "seeds": [ "Dowling-Degos disease 3" ], "gold_answer": "Mixed hypo- and hyperpigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05888", "question": "What is associated with Amelia involving the lower limbs?", "seeds": [ "Amelia involving the lower limbs" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05889", "question": "What is associated with Abnormal epididymis morphology?", "seeds": [ "Abnormal epididymis morphology" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05890", "question": "What is associated with Abnormal insertion of umbilical cord?", "seeds": [ "Abnormal insertion of umbilical cord" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05891", "question": "What phenotype is associated with Deafness, sensorineural, with peripheral neuropathy and arterial disease?", "seeds": [ "Deafness, sensorineural, with peripheral neuropathy and arterial disease" ], "gold_answer": "Peripheral arterial stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05892", "question": "What phenotype is associated with Oculoectodermal syndrome?", "seeds": [ "Oculoectodermal syndrome" ], "gold_answer": "Diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05893", "question": "What phenotype is associated with Congenital hemidysplasia with ichthyosiform erythroderma and limb defects?", "seeds": [ "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects" ], "gold_answer": "Single ventricle", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05894", "question": "What is associated with Cataract-hypertrichosis-intellectual disability syndrome?", "seeds": [ "Cataract-hypertrichosis-intellectual disability syndrome" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05895", "question": "What phenotype is associated with Neonatal adrenoleukodystrophy?", "seeds": [ "Neonatal adrenoleukodystrophy" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05896", "question": "What phenotype is associated with Dyggve-Melchior-Clausen disease?", "seeds": [ "Dyggve-Melchior-Clausen disease" ], "gold_answer": "Hypoplastic facial bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05897", "question": "What is associated with Impaired renal concentrating ability?", "seeds": [ "Impaired renal concentrating ability" ], "gold_answer": "Renal tubular dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05898", "question": "What is associated with Rib fusion?", "seeds": [ "Rib fusion" ], "gold_answer": "Abnormal rib morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05899", "question": "What is associated with Anemia, dyserythropoietic congenital, type II?", "seeds": [ "Anemia, dyserythropoietic congenital, type II" ], "gold_answer": "Abnormality of the gallbladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05900", "question": "What is associated with Cone-Rod dystrophy 18?", "seeds": [ "Cone-Rod dystrophy 18" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05901", "question": "What is associated with Abnormal pancreas size?", "seeds": [ "Abnormal pancreas size" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05902", "question": "What is associated with Bracket epiphysis of the proximal phalanx of the hallux?", "seeds": [ "Bracket epiphysis of the proximal phalanx of the hallux" ], "gold_answer": "Bracket epiphyses of the hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05903", "question": "What is associated with Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity?", "seeds": [ "Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05904", "question": "What is associated with Time agnosia?", "seeds": [ "Time agnosia" ], "gold_answer": "Disturbed perception with a stimulus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05905", "question": "What is associated with Bleeding requiring red cell transfusion?", "seeds": [ "Bleeding requiring red cell transfusion" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05906", "question": "What is associated with Cone-shaped epiphysis of the distal phalanx of the 3rd toe?", "seeds": [ "Cone-shaped epiphysis of the distal phalanx of the 3rd toe" ], "gold_answer": "Phalangeal cone-shaped epiphyses", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05907", "question": "What is associated with Arima syndrome?", "seeds": [ "Arima syndrome" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05908", "question": "What is associated with Delayed ossification of the scaphoid?", "seeds": [ "Delayed ossification of the scaphoid" ], "gold_answer": "Delayed ossification of carpal bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05909", "question": "What is associated with Renal tubular adenovirus inclusions?", "seeds": [ "Renal tubular adenovirus inclusions" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05910", "question": "What is associated with Elevated circulating complement C3 concentration?", "seeds": [ "Elevated circulating complement C3 concentration" ], "gold_answer": "Elevated circulating complement component concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05911", "question": "What is associated with Albinism, oculocutaneous, type V?", "seeds": [ "Albinism, oculocutaneous, type V" ], "gold_answer": "Generalized hypopigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05912", "question": "What is associated with Extensor tendons of finger anomalies?", "seeds": [ "Extensor tendons of finger anomalies" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05913", "question": "What is associated with Blepharophimosis-impaired intellectual development syndrome?", "seeds": [ "Blepharophimosis-impaired intellectual development syndrome" ], "gold_answer": "Abnormal toenail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05914", "question": "What is associated with Hereditary sick sinus syndrome?", "seeds": [ "Hereditary sick sinus syndrome" ], "gold_answer": "HCN4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_05915", "question": "What is associated with Endocardial fibroelastosis?", "seeds": [ "Endocardial fibroelastosis" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05916", "question": "What is associated with Weak anal sphincter tone?", "seeds": [ "Weak anal sphincter tone" ], "gold_answer": "Abnormality of the anus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05917", "question": "What is associated with Broad middle phalanx of the 5th toe?", "seeds": [ "Broad middle phalanx of the 5th toe" ], "gold_answer": "Broad phalanx of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05918", "question": "What is associated with Currarino syndrome?", "seeds": [ "Currarino syndrome" ], "gold_answer": "Abnormal anus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05919", "question": "What is associated with Decreased mannosylation of N-linked protein glycosylation?", "seeds": [ "Decreased mannosylation of N-linked protein glycosylation" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05920", "question": "What is associated with Hypoplasia of the semicircular canal?", "seeds": [ "Hypoplasia of the semicircular canal" ], "gold_answer": "Abnormal semicircular canal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05921", "question": "What is associated with Decreased circulating antimullerian hormone circulation?", "seeds": [ "Decreased circulating antimullerian hormone circulation" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05922", "question": "What is associated with Lymphatic malformation 14?", "seeds": [ "Lymphatic malformation 14" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05923", "question": "What is associated with Crackles?", "seeds": [ "Crackles" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05924", "question": "What is associated with Fumarase deficiency?", "seeds": [ "Fumarase deficiency" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05925", "question": "What is associated with Exercise-induced myoglobinuria?", "seeds": [ "Exercise-induced myoglobinuria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05926", "question": "What is associated with Fractured coccyx?", "seeds": [ "Fractured coccyx" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05927", "question": "What is associated with Abnormal fundus autofluorescence imaging?", "seeds": [ "Abnormal fundus autofluorescence imaging" ], "gold_answer": "Abnormal posterior segment imaging", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05928", "question": "What is associated with Phakomatosis pigmentokeratotica?", "seeds": [ "Phakomatosis pigmentokeratotica" ], "gold_answer": "Sarcoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05929", "question": "What is associated with Cervical C2/C3 vertebral fusion?", "seeds": [ "Cervical C2/C3 vertebral fusion" ], "gold_answer": "Vertebral fusion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05930", "question": "What is associated with Elevated urinary thymidine level?", "seeds": [ "Elevated urinary thymidine level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05931", "question": "What phenotype is associated with Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies?", "seeds": [ "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" ], "gold_answer": "Thickening of the glomerular basement membrane", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05932", "question": "What is associated with Increased urine glutamate level?", "seeds": [ "Increased urine glutamate level" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05933", "question": "What is associated with Ring chromosome 22 syndrome?", "seeds": [ "Ring chromosome 22 syndrome" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05934", "question": "What is associated with Positive meconium methadone test?", "seeds": [ "Positive meconium methadone test" ], "gold_answer": "Meconium xenobiotic", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05935", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 1?", "seeds": [ "Intellectual developmental disorder, X-linked 1" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05936", "question": "What is associated with Cortical radial artery hypercellularity?", "seeds": [ "Cortical radial artery hypercellularity" ], "gold_answer": "Abnormal intrarenal artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05937", "question": "What phenotype is associated with Li-Fraumeni syndrome 2?", "seeds": [ "Li-Fraumeni syndrome 2" ], "gold_answer": "Vascular tortuosity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05938", "question": "What is associated with Abnormal emotional state?", "seeds": [ "Abnormal emotional state" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05939", "question": "What phenotype is associated with Amniotic band syndrome?", "seeds": [ "Amniotic band syndrome" ], "gold_answer": "Hydrocephalus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05940", "question": "What is associated with Abnormal mandible morphology?", "seeds": [ "Abnormal mandible morphology" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05941", "question": "What is associated with Hypoplasia of the prostate?", "seeds": [ "Hypoplasia of the prostate" ], "gold_answer": "Abnormal male internal genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05942", "question": "What is associated with Absent bronchoalveolar surfactant-protein C?", "seeds": [ "Absent bronchoalveolar surfactant-protein C" ], "gold_answer": "Abnormal bronchoalveolar fluid protein level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05943", "question": "What is associated with Abnormal genital pigmentation?", "seeds": [ "Abnormal genital pigmentation" ], "gold_answer": "Abnormal external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05944", "question": "What is associated with Glycosylphosphatidylinositol deficiency?", "seeds": [ "Glycosylphosphatidylinositol deficiency" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05945", "question": "What is associated with Abnormal multifocal electroretinogram?", "seeds": [ "Abnormal multifocal electroretinogram" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05946", "question": "What is associated with Pseudoxanthoma elasticum, forme fruste?", "seeds": [ "Pseudoxanthoma elasticum, forme fruste" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05947", "question": "What is associated with Elevated urinary mevalonate lactone level?", "seeds": [ "Elevated urinary mevalonate lactone level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05948", "question": "What is associated with Decreased myocardial glycogen content?", "seeds": [ "Decreased myocardial glycogen content" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05949", "question": "What is associated with Fusion of gums?", "seeds": [ "Fusion of gums" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05950", "question": "What is associated with Mosaic trisomy 12 syndrome?", "seeds": [ "Mosaic trisomy 12 syndrome" ], "gold_answer": "Abnormality of the cervical spine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05951", "question": "What phenotype is associated with Retinitis pigmentosa 27?", "seeds": [ "Retinitis pigmentosa 27" ], "gold_answer": "Rod-cone dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05952", "question": "What is associated with Cerebral venous sinus thrombosis?", "seeds": [ "Cerebral venous sinus thrombosis" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05953", "question": "What is associated with Atrophoderma vermiculata?", "seeds": [ "Atrophoderma vermiculata" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05954", "question": "What is associated with Lymph-node follicular sclerosis?", "seeds": [ "Lymph-node follicular sclerosis" ], "gold_answer": "Abnormal lymph-node biospecimen", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05955", "question": "What is associated with Cervical vertebral agenesis?", "seeds": [ "Cervical vertebral agenesis" ], "gold_answer": "Aplasia/Hypoplasia of the cervical spine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05956", "question": "What is associated with Renal amyloidosis?", "seeds": [ "Renal amyloidosis" ], "gold_answer": "Amyloid deposition by anatomical site", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05957", "question": "What is associated with Interlobular septal thickening?", "seeds": [ "Interlobular septal thickening" ], "gold_answer": "Pulmonary interstitial high-resolution computed tomography abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05958", "question": "What is associated with Thymic cyst?", "seeds": [ "Thymic cyst" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05959", "question": "What is associated with Fusion of the caudate and putamen?", "seeds": [ "Fusion of the caudate and putamen" ], "gold_answer": "Abnormal basal ganglia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05960", "question": "What is associated with 5q35 microduplication syndrome?", "seeds": [ "5q35 microduplication syndrome" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05961", "question": "What is associated with Atrial septal defect 8?", "seeds": [ "Atrial septal defect 8" ], "gold_answer": "Abnormal atrial septum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05962", "question": "What is associated with Rubinstein-Taybi syndrome?", "seeds": [ "Rubinstein-Taybi syndrome" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05963", "question": "What is associated with Combined oxidative phosphorylation deficiency 19?", "seeds": [ "Combined oxidative phosphorylation deficiency 19" ], "gold_answer": "Elevated circulating hepatic transaminase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05964", "question": "What is associated with Chorioretinal dystrophy?", "seeds": [ "Chorioretinal dystrophy" ], "gold_answer": "Abnormal uvea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05965", "question": "What phenotype is associated with Autosomal spastic paraplegia type 58?", "seeds": [ "Autosomal spastic paraplegia type 58" ], "gold_answer": "Peripheral demyelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05966", "question": "What is associated with Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement?", "seeds": [ "Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement" ], "gold_answer": "Compensatory head posture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05967", "question": "What is associated with Macular dystrophy, patterned, 3?", "seeds": [ "Macular dystrophy, patterned, 3" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05968", "question": "What is associated with Elevated fraction exhaled nitric oxide?", "seeds": [ "Elevated fraction exhaled nitric oxide" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05969", "question": "What is associated with Intramuscular lipoma?", "seeds": [ "Intramuscular lipoma" ], "gold_answer": "Lipoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05970", "question": "What phenotype is associated with Fusariosis?", "seeds": [ "Fusariosis" ], "gold_answer": "Hypersensitivity pneumonitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05971", "question": "What is associated with Hypoplasia of the semicircular canal?", "seeds": [ "Hypoplasia of the semicircular canal" ], "gold_answer": "Abnormal morphology of the vestibule of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05972", "question": "What is associated with Focal aware cognitive seizure with anomia?", "seeds": [ "Focal aware cognitive seizure with anomia" ], "gold_answer": "Focal aware cognitive seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05973", "question": "What is associated with Lethal congenital contracture syndrome 4?", "seeds": [ "Lethal congenital contracture syndrome 4" ], "gold_answer": "Congenital contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05974", "question": "What is associated with Anti-GT1a IgM antibody positivity?", "seeds": [ "Anti-GT1a IgM antibody positivity" ], "gold_answer": "Anti-ganglioside antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05975", "question": "What is associated with Gonadal dysgenesis with female appearance, male?", "seeds": [ "Gonadal dysgenesis with female appearance, male" ], "gold_answer": "Gonadal dysgenesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05976", "question": "What is associated with Harel-Yoon syndrome?", "seeds": [ "Harel-Yoon syndrome" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05977", "question": "What is associated with 5-oxoprolinase deficiency?", "seeds": [ "5-oxoprolinase deficiency" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05978", "question": "What is associated with Phenobarbital embryopathy?", "seeds": [ "Phenobarbital embryopathy" ], "gold_answer": "GATA4", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_05979", "question": "What is associated with Hypotrichosis and recurrent skin vesicles?", "seeds": [ "Hypotrichosis and recurrent skin vesicles" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05980", "question": "What is associated with Onychogryphosis?", "seeds": [ "Onychogryphosis" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05981", "question": "What is associated with Rhizomelic dysplasia, Patterson-Lowry type?", "seeds": [ "Rhizomelic dysplasia, Patterson-Lowry type" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05982", "question": "What phenotype is associated with Perioral myoclonia with absences?", "seeds": [ "Perioral myoclonia with absences" ], "gold_answer": "Chin myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05983", "question": "What is associated with Periodic fever, menstrual cycle-dependent?", "seeds": [ "Periodic fever, menstrual cycle-dependent" ], "gold_answer": "Headache", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05984", "question": "What phenotype is associated with Macular dystrophy, vitelliform, 4?", "seeds": [ "Macular dystrophy, vitelliform, 4" ], "gold_answer": "Moderately reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05985", "question": "What is associated with Impaired arachidonic acid-induced platelet aggregation?", "seeds": [ "Impaired arachidonic acid-induced platelet aggregation" ], "gold_answer": "Impaired platelet aggregation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_05986", "question": "What is associated with Duplication of phalanx of 2nd finger?", "seeds": [ "Duplication of phalanx of 2nd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05987", "question": "What is associated with Increased KCO?", "seeds": [ "Increased KCO" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05988", "question": "What is associated with Sugarman brachydactyly?", "seeds": [ "Sugarman brachydactyly" ], "gold_answer": "Proximal symphalangism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05989", "question": "What phenotype is associated with Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities?", "seeds": [ "Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities" ], "gold_answer": "Flared metaphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05990", "question": "What phenotype is associated with Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome?", "seeds": [ "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" ], "gold_answer": "Progressive microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05991", "question": "What is associated with Shock?", "seeds": [ "Shock" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05992", "question": "What is associated with Familial hypocalciuric hypercalcemia?", "seeds": [ "Familial hypocalciuric hypercalcemia" ], "gold_answer": "Episodic pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05993", "question": "What is associated with Constricted radial neck?", "seeds": [ "Constricted radial neck" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05994", "question": "What is associated with Joubert syndrome 23?", "seeds": [ "Joubert syndrome 23" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05995", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 61?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 61" ], "gold_answer": "Disinhibition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_05996", "question": "What is associated with Diffuse swelling of cerebral white matter?", "seeds": [ "Diffuse swelling of cerebral white matter" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05997", "question": "What phenotype is associated with Syndromic multisystem autoimmune disease due to Itch deficiency?", "seeds": [ "Syndromic multisystem autoimmune disease due to Itch deficiency" ], "gold_answer": "Dolichocephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_05998", "question": "What is associated with Camptodactyly-tall stature-scoliosis-hearing loss syndrome?", "seeds": [ "Camptodactyly-tall stature-scoliosis-hearing loss syndrome" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_05999", "question": "What is associated with Silent hypoxemia?", "seeds": [ "Silent hypoxemia" ], "gold_answer": "Hypoxemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06000", "question": "What is associated with Elevated hemoglobin A1c?", "seeds": [ "Elevated hemoglobin A1c" ], "gold_answer": "Abnormal hemoglobin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06001", "question": "What phenotype is associated with Paget disease of bone 5, juvenile-onset?", "seeds": [ "Paget disease of bone 5, juvenile-onset" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06002", "question": "What is associated with Unaided visual acuity 0.7 LogMAR?", "seeds": [ "Unaided visual acuity 0.7 LogMAR" ], "gold_answer": "Abnormal unaided visual acuity test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06003", "question": "What is associated with Gerstmann-Straussler-Scheinker syndrome?", "seeds": [ "Gerstmann-Straussler-Scheinker syndrome" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06004", "question": "What is associated with Ascending aortic dissection?", "seeds": [ "Ascending aortic dissection" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06005", "question": "What is associated with Thymic carcinoid tumor?", "seeds": [ "Thymic carcinoid tumor" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06006", "question": "What is associated with Monosomy 7 myelodysplasia and leukemia syndrome 2?", "seeds": [ "Monosomy 7 myelodysplasia and leukemia syndrome 2" ], "gold_answer": "Abnormal bone marrow cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06007", "question": "What is associated with Inferior oblique muscle overaction?", "seeds": [ "Inferior oblique muscle overaction" ], "gold_answer": "Abnormal extraocular muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06008", "question": "What phenotype is associated with Cyanide-induced parkinsonism-dystonia?", "seeds": [ "Cyanide-induced parkinsonism-dystonia" ], "gold_answer": "Dysarthria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06009", "question": "What phenotype is associated with Thumbs, stiff, with brachydactyly type A1 and developmental delay?", "seeds": [ "Thumbs, stiff, with brachydactyly type A1 and developmental delay" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06010", "question": "What is associated with Esophoria?", "seeds": [ "Esophoria" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06011", "question": "What is associated with Neural tube defect?", "seeds": [ "Neural tube defect" ], "gold_answer": "Abnormal neural tube morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06012", "question": "What is associated with Subretinal hyporeflective spaces on macular OCT?", "seeds": [ "Subretinal hyporeflective spaces on macular OCT" ], "gold_answer": "Abnormal retinal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06013", "question": "What phenotype is associated with Acquired hypertrichosis lanuginosa?", "seeds": [ "Acquired hypertrichosis lanuginosa" ], "gold_answer": "Acanthosis nigricans", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06014", "question": "What phenotype is associated with Brachydactyly-syndactyly, Zhao type?", "seeds": [ "Brachydactyly-syndactyly, Zhao type" ], "gold_answer": "Hallux valgus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06015", "question": "What phenotype is associated with Infant botulism?", "seeds": [ "Infant botulism" ], "gold_answer": "Constipation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06016", "question": "What is associated with Glomerular endocapillary hypercellularity?", "seeds": [ "Glomerular endocapillary hypercellularity" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06017", "question": "What is associated with Renal duplication?", "seeds": [ "Renal duplication" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06018", "question": "What is associated with Intrauterine growth retardation with increased mitomycin C sensitivity?", "seeds": [ "Intrauterine growth retardation with increased mitomycin C sensitivity" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06019", "question": "What is associated with Overlapping fingers?", "seeds": [ "Overlapping fingers" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06020", "question": "What is associated with Abnormal morphology of the radius?", "seeds": [ "Abnormal morphology of the radius" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06021", "question": "What is associated with Hyperphalangy of the 2nd finger?", "seeds": [ "Hyperphalangy of the 2nd finger" ], "gold_answer": "Finger hyperphalangy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06022", "question": "What is associated with Microcoria?", "seeds": [ "Microcoria" ], "gold_answer": "Abnormal pupil morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06023", "question": "What is associated with Extraskeletal Ewing sarcoma?", "seeds": [ "Extraskeletal Ewing sarcoma" ], "gold_answer": "ERG", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_06024", "question": "What is associated with Abnormal spermatogenesis?", "seeds": [ "Abnormal spermatogenesis" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06025", "question": "What is associated with Familial paroxysmal ataxia?", "seeds": [ "Familial paroxysmal ataxia" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06026", "question": "What is associated with Pain at the posterior aspect of the elbow?", "seeds": [ "Pain at the posterior aspect of the elbow" ], "gold_answer": "Limb pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06027", "question": "What is associated with Oligosacchariduria?", "seeds": [ "Oligosacchariduria" ], "gold_answer": "Abnormal urine carbohydrate level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06028", "question": "What is associated with Hypoplasia of fetal nasal bone?", "seeds": [ "Hypoplasia of fetal nasal bone" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06029", "question": "What is associated with Abnormal pattern electroretinogram?", "seeds": [ "Abnormal pattern electroretinogram" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06030", "question": "What is associated with Triangular shaped proximal phalanx of the hallux?", "seeds": [ "Triangular shaped proximal phalanx of the hallux" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06031", "question": "What is associated with Ectodermal dysplasia 13, Hair/tooth type?", "seeds": [ "Ectodermal dysplasia 13, Hair/tooth type" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06032", "question": "What phenotype is associated with Fibrous cardiac diverticulum?", "seeds": [ "Fibrous cardiac diverticulum" ], "gold_answer": "Coronaryartery atherosclerosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06033", "question": "What phenotype is associated with Card11 immunodeficiency?", "seeds": [ "Card11 immunodeficiency" ], "gold_answer": "Pneumocystis jirovecii pneumonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06034", "question": "What is associated with Familial scaphocephaly syndrome, McGillivray type?", "seeds": [ "Familial scaphocephaly syndrome, McGillivray type" ], "gold_answer": "Abnormal cerebral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06035", "question": "What is associated with Anomalous origin of left coronary artery from the pulmonary artery?", "seeds": [ "Anomalous origin of left coronary artery from the pulmonary artery" ], "gold_answer": "Abnormal coronary artery origin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06036", "question": "What is associated with Increased circulating nicotinurate level?", "seeds": [ "Increased circulating nicotinurate level" ], "gold_answer": "Abnormal circulating nicotinurate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06037", "question": "What is associated with Short stature-craniofacial anomalies-genital hypoplasia syndrome?", "seeds": [ "Short stature-craniofacial anomalies-genital hypoplasia syndrome" ], "gold_answer": "Abnormal neck morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06038", "question": "What is associated with Disordered steroidogenesis due to cytochrome P450 oxidoreductase?", "seeds": [ "Disordered steroidogenesis due to cytochrome P450 oxidoreductase" ], "gold_answer": "Abnormal circulating adrenocorticotropin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06039", "question": "What phenotype is associated with Holoprosencephaly with fetal akinesia/hypokinesia sequence?", "seeds": [ "Holoprosencephaly with fetal akinesia/hypokinesia sequence" ], "gold_answer": "Macrotia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06040", "question": "What is associated with Tzanck smear with multinucleated giant cells?", "seeds": [ "Tzanck smear with multinucleated giant cells" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06041", "question": "What is associated with Anti-acetylcholine receptor antibody positivity?", "seeds": [ "Anti-acetylcholine receptor antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06042", "question": "What phenotype is associated with Kleefstra syndrome 2?", "seeds": [ "Kleefstra syndrome 2" ], "gold_answer": "Nasal, dysarthic speech", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06043", "question": "What is associated with Decreased tear drainage?", "seeds": [ "Decreased tear drainage" ], "gold_answer": "Epiphora", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06044", "question": "What is associated with Bladder trabeculation?", "seeds": [ "Bladder trabeculation" ], "gold_answer": "Abnormal bladder morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06045", "question": "What is associated with Hypersensitivity pneumonitis?", "seeds": [ "Hypersensitivity pneumonitis" ], "gold_answer": "Abnormal pulmonary interstitial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06046", "question": "What is associated with Hao-Fountain syndrome due to USP7 mutation?", "seeds": [ "Hao-Fountain syndrome due to USP7 mutation" ], "gold_answer": "USP7", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06047", "question": "What is associated with Abnormal urine urobilinogen level?", "seeds": [ "Abnormal urine urobilinogen level" ], "gold_answer": "Abnormal urinary organic compound level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06048", "question": "What is associated with Hypoplastic nipples?", "seeds": [ "Hypoplastic nipples" ], "gold_answer": "Aplasia/Hypoplasia of the nipples", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06049", "question": "What is associated with Abnormal antihelix morphology?", "seeds": [ "Abnormal antihelix morphology" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06050", "question": "What is associated with Female pseudohermaphroditism?", "seeds": [ "Female pseudohermaphroditism" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06051", "question": "What is associated with Abnormal mitral valve physiology?", "seeds": [ "Abnormal mitral valve physiology" ], "gold_answer": "Abnormal heart valve physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06052", "question": "What is associated with Lower-limb metaphyseal irregularity?", "seeds": [ "Lower-limb metaphyseal irregularity" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06053", "question": "What is associated with Epithelioid hemangioma?", "seeds": [ "Epithelioid hemangioma" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06054", "question": "What is associated with Sebaceous gland hyperplasia, familial presenile?", "seeds": [ "Sebaceous gland hyperplasia, familial presenile" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06055", "question": "What is associated with Lymphoproliferative disorder?", "seeds": [ "Lymphoproliferative disorder" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06056", "question": "What is associated with Osteolytic defects of the distal phalanx of the 3rd finger?", "seeds": [ "Osteolytic defects of the distal phalanx of the 3rd finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06057", "question": "What is associated with Absent thumb?", "seeds": [ "Absent thumb" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06058", "question": "What is associated with Distal myopathy, Welander type?", "seeds": [ "Distal myopathy, Welander type" ], "gold_answer": "Abnormality of the musculature of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06059", "question": "What is associated with Left bundle branch block?", "seeds": [ "Left bundle branch block" ], "gold_answer": "Cardiac conduction abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06060", "question": "What is associated with Aerophagia?", "seeds": [ "Aerophagia" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06061", "question": "What is associated with Dicarboxylic aminoaciduria?", "seeds": [ "Dicarboxylic aminoaciduria" ], "gold_answer": "SLC1A1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_06062", "question": "What is associated with Primary angiitis of the central nervous system?", "seeds": [ "Primary angiitis of the central nervous system" ], "gold_answer": "Internal hemorrhage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06063", "question": "What is associated with Epilepsy with myoclonic-atonic seizures?", "seeds": [ "Epilepsy with myoclonic-atonic seizures" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06064", "question": "What is associated with Heparan sulfate excretion in urine?", "seeds": [ "Heparan sulfate excretion in urine" ], "gold_answer": "Mucopolysacchariduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06065", "question": "What is associated with Sclerotic foci of metaphyses of the elbow?", "seeds": [ "Sclerotic foci of metaphyses of the elbow" ], "gold_answer": "Sclerosis of metaphyses of the upper limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06066", "question": "What phenotype is associated with Kleeblattschaedel syndrome?", "seeds": [ "Kleeblattschaedel syndrome" ], "gold_answer": "Craniosynostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06067", "question": "What is associated with Ruminations?", "seeds": [ "Ruminations" ], "gold_answer": "Abnormal preoccupation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06068", "question": "What is associated with Teebi hypertelorism syndrome 2?", "seeds": [ "Teebi hypertelorism syndrome 2" ], "gold_answer": "Abnormal upper lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06069", "question": "What is associated with Hermansky-Pudlak syndrome 1?", "seeds": [ "Hermansky-Pudlak syndrome 1" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06070", "question": "What is associated with Neutrophilic urticarial dermatosis?", "seeds": [ "Neutrophilic urticarial dermatosis" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06071", "question": "What phenotype is associated with Peutz-Jeghers syndrome?", "seeds": [ "Peutz-Jeghers syndrome" ], "gold_answer": "Uterine neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06072", "question": "What is associated with Brachydactyly-arterial hypertension syndrome?", "seeds": [ "Brachydactyly-arterial hypertension syndrome" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06073", "question": "What phenotype is associated with Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis?", "seeds": [ "Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" ], "gold_answer": "Tetraplegia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06074", "question": "What is associated with Epidermolysis bullosa dystrophica neurotrophica?", "seeds": [ "Epidermolysis bullosa dystrophica neurotrophica" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06075", "question": "What is associated with Temple syndrome due to paternal 14q32.2 hypomethylation?", "seeds": [ "Temple syndrome due to paternal 14q32.2 hypomethylation" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06076", "question": "What is associated with IgG4-related dacryoadenitis and sialadenitis?", "seeds": [ "IgG4-related dacryoadenitis and sialadenitis" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06077", "question": "What is associated with Combined oxidative phosphorylation deficiency 18?", "seeds": [ "Combined oxidative phosphorylation deficiency 18" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06078", "question": "What is associated with Increased CSF urate concentration?", "seeds": [ "Increased CSF urate concentration" ], "gold_answer": "Abnormal CSF urate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06079", "question": "What is associated with Neurofibromatosis, familial spinal?", "seeds": [ "Neurofibromatosis, familial spinal" ], "gold_answer": "Neoplasm of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06080", "question": "What is associated with Mandibulofacial dysostosis with ptosis, autosomal dominant?", "seeds": [ "Mandibulofacial dysostosis with ptosis, autosomal dominant" ], "gold_answer": "Tooth malposition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06081", "question": "What is associated with Abnormal spinal cord dorsal column morphology?", "seeds": [ "Abnormal spinal cord dorsal column morphology" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06082", "question": "What is associated with Myopathy, centronuclear, 2?", "seeds": [ "Myopathy, centronuclear, 2" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06083", "question": "What is associated with Marginal umbilical cord insertion?", "seeds": [ "Marginal umbilical cord insertion" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06084", "question": "What is associated with Coronary sinus diverticulum?", "seeds": [ "Coronary sinus diverticulum" ], "gold_answer": "Abnormal coronary sinus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06085", "question": "What phenotype is associated with Robinow syndrome?", "seeds": [ "Robinow syndrome" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06086", "question": "What is associated with Recurrent parasitic infections?", "seeds": [ "Recurrent parasitic infections" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06087", "question": "What is associated with High altitude exposure?", "seeds": [ "High altitude exposure" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06088", "question": "What phenotype is associated with Camptomelic syndrome, Long-Limb type?", "seeds": [ "Camptomelic syndrome, Long-Limb type" ], "gold_answer": "Bowing of the long bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06089", "question": "What phenotype is associated with Growth hormone deficiency, isolated, type IV?", "seeds": [ "Growth hormone deficiency, isolated, type IV" ], "gold_answer": "Severe short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06090", "question": "What is associated with Second trimester onset?", "seeds": [ "Second trimester onset" ], "gold_answer": "Onset", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06091", "question": "What is associated with Talonavicular coalition?", "seeds": [ "Talonavicular coalition" ], "gold_answer": "Absent toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06092", "question": "What is associated with Ocular cystine crystal deposition?", "seeds": [ "Ocular cystine crystal deposition" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06093", "question": "What phenotype is associated with Cataract 49?", "seeds": [ "Cataract 49" ], "gold_answer": "Posterior cortical cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06094", "question": "What is associated with Medium chain acyl-CoA dehydrogenase deficiency?", "seeds": [ "Medium chain acyl-CoA dehydrogenase deficiency" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06095", "question": "What phenotype is associated with TELO2-related intellectual disability-neurodevelopmental disorder?", "seeds": [ "TELO2-related intellectual disability-neurodevelopmental disorder" ], "gold_answer": "Joint hypermobility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06096", "question": "What is associated with Sclerosis of the distal phalanx of the 3rd finger?", "seeds": [ "Sclerosis of the distal phalanx of the 3rd finger" ], "gold_answer": "Sclerosis of 3rd finger phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06097", "question": "What is associated with Hypomagnesemia?", "seeds": [ "Hypomagnesemia" ], "gold_answer": "Abnormal blood cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06098", "question": "What is associated with Erythrokeratodermia variabilis et progressiva 3?", "seeds": [ "Erythrokeratodermia variabilis et progressiva 3" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06099", "question": "What is associated with Patchy changes of bone mineral density?", "seeds": [ "Patchy changes of bone mineral density" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06100", "question": "What is associated with Gonadal dysgenesis, male?", "seeds": [ "Gonadal dysgenesis, male" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06101", "question": "What is associated with Familial cold autoinflammatory syndrome 4?", "seeds": [ "Familial cold autoinflammatory syndrome 4" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06102", "question": "What is associated with Erythrokeratodermia variabilis et progressiva 4?", "seeds": [ "Erythrokeratodermia variabilis et progressiva 4" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06103", "question": "What phenotype is associated with X-linked intellectual disability-acromegaly-hyperactivity syndrome?", "seeds": [ "X-linked intellectual disability-acromegaly-hyperactivity syndrome" ], "gold_answer": "Folate-dependent fragile site at Xq28", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06104", "question": "What is associated with Pseudoepiphysis of the proximal phalanx of the 2nd toe?", "seeds": [ "Pseudoepiphysis of the proximal phalanx of the 2nd toe" ], "gold_answer": "Abnormality of the epiphyses of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06105", "question": "What phenotype is associated with Salla disease?", "seeds": [ "Salla disease" ], "gold_answer": "Exotropia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06106", "question": "What is associated with Intellectual developmental disorder, X-linked 73?", "seeds": [ "Intellectual developmental disorder, X-linked 73" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06107", "question": "What is associated with Intestinal worm?", "seeds": [ "Intestinal worm" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06108", "question": "What is associated with Shoulder subluxation?", "seeds": [ "Shoulder subluxation" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06109", "question": "What is associated with Isolated absence of upper arm and forearm with hand present?", "seeds": [ "Isolated absence of upper arm and forearm with hand present" ], "gold_answer": "Aplasia/hypoplasia involving bones of the extremities", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06110", "question": "What is associated with Fractured distal phalanx of manual digit 5?", "seeds": [ "Fractured distal phalanx of manual digit 5" ], "gold_answer": "Abnormality of the distal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06111", "question": "What is associated with Recurrent viral skin infections?", "seeds": [ "Recurrent viral skin infections" ], "gold_answer": "Recurrent viral infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06112", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 43?", "seeds": [ "Autosomal recessive spastic paraplegia type 43" ], "gold_answer": "Knee flexion contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06113", "question": "What is associated with Agenesis of permanent mandibular central incisor?", "seeds": [ "Agenesis of permanent mandibular central incisor" ], "gold_answer": "Agenesis of mandibular central incisor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06114", "question": "What is associated with 5p13 microduplication syndrome?", "seeds": [ "5p13 microduplication syndrome" ], "gold_answer": "NIPBL", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "role_in_the_phenotype_of" } }, { "query_id": "orph_train_06115", "question": "What is associated with Osseous finger syndactyly?", "seeds": [ "Osseous finger syndactyly" ], "gold_answer": "Finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06116", "question": "What is associated with Posterior fusion of lumbosacral vertebrae?", "seeds": [ "Posterior fusion of lumbosacral vertebrae" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06117", "question": "What is associated with Pterygium colli-intellectual disability-digital anomalies syndrome?", "seeds": [ "Pterygium colli-intellectual disability-digital anomalies syndrome" ], "gold_answer": "Enlarged joints", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06118", "question": "What is associated with Oculogastrointestinal neurodevelopmental syndrome?", "seeds": [ "Oculogastrointestinal neurodevelopmental syndrome" ], "gold_answer": "Abnormality of the anus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06119", "question": "What phenotype is associated with Woolly hair-skin fragility syndrome?", "seeds": [ "Woolly hair-skin fragility syndrome" ], "gold_answer": "Slow-growing hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06120", "question": "What is associated with Ivory epiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Ivory epiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Sclerosis of 4th finger phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06121", "question": "What is associated with Delayed elbow epiphyseal ossification?", "seeds": [ "Delayed elbow epiphyseal ossification" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06122", "question": "What is associated with Pharyngeal exudate?", "seeds": [ "Pharyngeal exudate" ], "gold_answer": "Abnormal pharynx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06123", "question": "What is associated with Abnormal lymph-node lymphoctye nuclear morphology?", "seeds": [ "Abnormal lymph-node lymphoctye nuclear morphology" ], "gold_answer": "Abnormal lymph-node cellular finding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06124", "question": "What is associated with ALG11-CDG?", "seeds": [ "ALG11-CDG" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06125", "question": "What is associated with Small trapezoid bone?", "seeds": [ "Small trapezoid bone" ], "gold_answer": "Abnormal wrist morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06126", "question": "What phenotype is associated with Elliptocytosis 2?", "seeds": [ "Elliptocytosis 2" ], "gold_answer": "Reticulocytosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06127", "question": "What is associated with Asternia?", "seeds": [ "Asternia" ], "gold_answer": "Abnormal sternum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06128", "question": "What is associated with Aggravated by sun exposure?", "seeds": [ "Aggravated by sun exposure" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06129", "question": "What is associated with Long eyelashes?", "seeds": [ "Long eyelashes" ], "gold_answer": "Abnormal eyelash morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06130", "question": "What phenotype is associated with Premature aging syndrome, Penttinen type?", "seeds": [ "Premature aging syndrome, Penttinen type" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06131", "question": "What is associated with Horner syndrome?", "seeds": [ "Horner syndrome" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06132", "question": "What is associated with Noonan syndrome-like disorder with loose anagen hair?", "seeds": [ "Noonan syndrome-like disorder with loose anagen hair" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06133", "question": "What is associated with Enlarged posterior fossa?", "seeds": [ "Enlarged posterior fossa" ], "gold_answer": "Abnormal skull base morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06134", "question": "What is associated with Abnormal palmar dermal ridges?", "seeds": [ "Abnormal palmar dermal ridges" ], "gold_answer": "Abnormal palm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06135", "question": "What is associated with Beemer-Ertbruggen syndrome?", "seeds": [ "Beemer-Ertbruggen syndrome" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06136", "question": "What is associated with Asynergia?", "seeds": [ "Asynergia" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06137", "question": "What is associated with Type 2 schizencephaly?", "seeds": [ "Type 2 schizencephaly" ], "gold_answer": "Hemiplegia/hemiparesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06138", "question": "What is associated with Myelocystocele?", "seeds": [ "Myelocystocele" ], "gold_answer": "Neural tube defect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06139", "question": "What is associated with Undetectable visual evoked potentials?", "seeds": [ "Undetectable visual evoked potentials" ], "gold_answer": "Abnormal brain-evoked potentials", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06140", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 22?", "seeds": [ "Ciliary dyskinesia, primary, 22" ], "gold_answer": "Webbed neck", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06141", "question": "What phenotype is associated with Corneal dystrophy, Fuchs endothelial, 4?", "seeds": [ "Corneal dystrophy, Fuchs endothelial, 4" ], "gold_answer": "Corneal guttata", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06142", "question": "What is associated with Triangular tongue?", "seeds": [ "Triangular tongue" ], "gold_answer": "Abnormality of the tongue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06143", "question": "What is associated with Decreased fucosylation of N-linked protein glycosylation?", "seeds": [ "Decreased fucosylation of N-linked protein glycosylation" ], "gold_answer": "Abnormal protein N-linked glycosylation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06144", "question": "What phenotype is associated with Periventricular nodular heterotopia 7?", "seeds": [ "Periventricular nodular heterotopia 7" ], "gold_answer": "Myopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06145", "question": "What is associated with Trichothiodystrophy 7, nonphotosensitive?", "seeds": [ "Trichothiodystrophy 7, nonphotosensitive" ], "gold_answer": "SULT2B1", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06146", "question": "What is associated with Homozygous familial hypercholesterolemia?", "seeds": [ "Homozygous familial hypercholesterolemia" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06147", "question": "What is associated with Decreased amplitude of sensory action potentials?", "seeds": [ "Decreased amplitude of sensory action potentials" ], "gold_answer": "Abnormality of peripheral nerve conduction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06148", "question": "What is associated with Calcific stippling of infantile cartilaginous skeleton?", "seeds": [ "Calcific stippling of infantile cartilaginous skeleton" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06149", "question": "What is associated with Arthrogryposis and ectodermal dysplasia?", "seeds": [ "Arthrogryposis and ectodermal dysplasia" ], "gold_answer": "Upper-limb joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06150", "question": "What is associated with Pulmonary parenchymal band?", "seeds": [ "Pulmonary parenchymal band" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06151", "question": "What is associated with Pulmonary arterial hypertension with positive acute response to NO challenge?", "seeds": [ "Pulmonary arterial hypertension with positive acute response to NO challenge" ], "gold_answer": "Pulmonary arterial hypertension", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06152", "question": "What is associated with Reduced imaginative play skills?", "seeds": [ "Reduced imaginative play skills" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06153", "question": "What is associated with Congenital factor XII deficiency?", "seeds": [ "Congenital factor XII deficiency" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06154", "question": "What is associated with Opsismodysplasia?", "seeds": [ "Opsismodysplasia" ], "gold_answer": "Abdominal distention", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06155", "question": "What is associated with Global proximal tubulopathy?", "seeds": [ "Global proximal tubulopathy" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06156", "question": "What is associated with Limitation of joint mobility?", "seeds": [ "Limitation of joint mobility" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06157", "question": "What is associated with Urethral sphincter sclerosis?", "seeds": [ "Urethral sphincter sclerosis" ], "gold_answer": "Urethral stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06158", "question": "What is associated with Palmar telangiectasia?", "seeds": [ "Palmar telangiectasia" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06159", "question": "What is associated with Ullrich congenital muscular dystrophy 2?", "seeds": [ "Ullrich congenital muscular dystrophy 2" ], "gold_answer": "Joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06160", "question": "What is associated with Reduced beta-hexosaminidase A activity?", "seeds": [ "Reduced beta-hexosaminidase A activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06161", "question": "What is associated with Absent dermal elastic fibers?", "seeds": [ "Absent dermal elastic fibers" ], "gold_answer": "Abnormal cutaneous elastic fiber morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06162", "question": "What is associated with Clumping of elastic fibers in the dermis?", "seeds": [ "Clumping of elastic fibers in the dermis" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06163", "question": "What is associated with Frontotemporal dementia and/or amyotrophic lateral sclerosis 2?", "seeds": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 2" ], "gold_answer": "CHCHD10", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06164", "question": "What is associated with Generalized ichthyosis?", "seeds": [ "Generalized ichthyosis" ], "gold_answer": "Ichthyosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06165", "question": "What is associated with Solitary fibrous tumor?", "seeds": [ "Solitary fibrous tumor" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06166", "question": "What is associated with Patchy sclerosis of the distal phalanx of the 5th toe?", "seeds": [ "Patchy sclerosis of the distal phalanx of the 5th toe" ], "gold_answer": "Patchy osteosclerosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06167", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the hallux?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the hallux" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06168", "question": "What is associated with Congenital heart defects, multiple types, 2?", "seeds": [ "Congenital heart defects, multiple types, 2" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06169", "question": "What phenotype is associated with Severe oculo-renal-cerebellar syndrome?", "seeds": [ "Severe oculo-renal-cerebellar syndrome" ], "gold_answer": "Hypoplasia of the zygomatic bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06170", "question": "What is associated with Shortened inner dynein arms?", "seeds": [ "Shortened inner dynein arms" ], "gold_answer": "Abnormal respiratory motile cilium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06171", "question": "What is associated with Sacralization of the fifth lumbar vertebra?", "seeds": [ "Sacralization of the fifth lumbar vertebra" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06172", "question": "What phenotype is associated with Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome?", "seeds": [ "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome" ], "gold_answer": "Upper limb amyotrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06173", "question": "What is associated with Abnormal circulating carnitine concentration?", "seeds": [ "Abnormal circulating carnitine concentration" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06174", "question": "What is associated with 4-5 toe syndactyly?", "seeds": [ "4-5 toe syndactyly" ], "gold_answer": "Syndactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06175", "question": "What is associated with Capillary malformation of the lip?", "seeds": [ "Capillary malformation of the lip" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06176", "question": "What is associated with Premature posterior fontanelle closure?", "seeds": [ "Premature posterior fontanelle closure" ], "gold_answer": "Premature closure of fontanelles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06177", "question": "What is associated with Jejunitis?", "seeds": [ "Jejunitis" ], "gold_answer": "Abnormal small intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06178", "question": "What is associated with Anterior encephalocele?", "seeds": [ "Anterior encephalocele" ], "gold_answer": "Encephalocele", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06179", "question": "What is associated with Decreased mannosylation of N-linked protein glycosylation?", "seeds": [ "Decreased mannosylation of N-linked protein glycosylation" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06180", "question": "What is associated with Autosomal dominant adult-onset proximal spinal muscular atrophy?", "seeds": [ "Autosomal dominant adult-onset proximal spinal muscular atrophy" ], "gold_answer": "Limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06181", "question": "What is associated with Recent steroid exposure?", "seeds": [ "Recent steroid exposure" ], "gold_answer": "Medication history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06182", "question": "What is associated with Depressed glabella?", "seeds": [ "Depressed glabella" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06183", "question": "What is associated with Temple-Baraitser syndrome?", "seeds": [ "Temple-Baraitser syndrome" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06184", "question": "What is associated with Specific anosmia?", "seeds": [ "Specific anosmia" ], "gold_answer": "Abnormality of the sense of smell", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06185", "question": "What is associated with Tibial torsion?", "seeds": [ "Tibial torsion" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06186", "question": "What phenotype is associated with Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency?", "seeds": [ "Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06187", "question": "What phenotype is associated with Microcephaly 9, primary, autosomal recessive?", "seeds": [ "Microcephaly 9, primary, autosomal recessive" ], "gold_answer": "Impulsivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06188", "question": "What is associated with Abnormality of the periorbital region?", "seeds": [ "Abnormality of the periorbital region" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06189", "question": "What is associated with Malonyl-CoA decarboxylase deficiency?", "seeds": [ "Malonyl-CoA decarboxylase deficiency" ], "gold_answer": "Abnormal blood glucose concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06190", "question": "What is associated with Increased size of the clitoris?", "seeds": [ "Increased size of the clitoris" ], "gold_answer": "Abnormal size of the clitoris", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06191", "question": "What is associated with Abnormal foveal pigmentation?", "seeds": [ "Abnormal foveal pigmentation" ], "gold_answer": "Abnormal foveal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06192", "question": "What phenotype is associated with Progressive familial intrahepatic cholestasis?", "seeds": [ "Progressive familial intrahepatic cholestasis" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06193", "question": "What is associated with Abnormal urine cytology?", "seeds": [ "Abnormal urine cytology" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06194", "question": "What is associated with Glycogen storage disease due to liver phosphorylase kinase deficiency?", "seeds": [ "Glycogen storage disease due to liver phosphorylase kinase deficiency" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06195", "question": "What is associated with Abnormality of hair texture?", "seeds": [ "Abnormality of hair texture" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06196", "question": "What is associated with Epidermodysplasia verruciformis 2?", "seeds": [ "Epidermodysplasia verruciformis 2" ], "gold_answer": "Verrucae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06197", "question": "What is associated with Neonatal focal clonic seizure?", "seeds": [ "Neonatal focal clonic seizure" ], "gold_answer": "Neonatal electro-clinical motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06198", "question": "What is associated with Speech apraxia?", "seeds": [ "Speech apraxia" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06199", "question": "What is associated with Broad phalanges of the 5th toe?", "seeds": [ "Broad phalanges of the 5th toe" ], "gold_answer": "Broad phalanx of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06200", "question": "What is associated with Open neural tube defect?", "seeds": [ "Open neural tube defect" ], "gold_answer": "Abnormal neural tube morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06201", "question": "What is associated with Renal vein thrombosis?", "seeds": [ "Renal vein thrombosis" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06202", "question": "What is associated with Paraspinal muscle hypertrophy?", "seeds": [ "Paraspinal muscle hypertrophy" ], "gold_answer": "Abnormality of muscle size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06203", "question": "What is associated with Increased level of ribitol in urine?", "seeds": [ "Increased level of ribitol in urine" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06204", "question": "What is associated with Iminoglycinuria?", "seeds": [ "Iminoglycinuria" ], "gold_answer": "Increased proteinogenic amino acid level in urine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06205", "question": "What is associated with Praxis-induced seizure?", "seeds": [ "Praxis-induced seizure" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06206", "question": "What is associated with Band heterotopia?", "seeds": [ "Band heterotopia" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06207", "question": "What is associated with Abnormal morphology of the olfactory bulb?", "seeds": [ "Abnormal morphology of the olfactory bulb" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06208", "question": "What is associated with Recurrent pneumonia?", "seeds": [ "Recurrent pneumonia" ], "gold_answer": "Pneumonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06209", "question": "What is associated with Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to?", "seeds": [ "Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" ], "gold_answer": "Abnormal pericardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06210", "question": "What is associated with Partial absence of foot?", "seeds": [ "Partial absence of foot" ], "gold_answer": "Aplasia/hypoplasia involving bones of the extremities", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06211", "question": "What is associated with Abnormal scaphoid morphology?", "seeds": [ "Abnormal scaphoid morphology" ], "gold_answer": "Abnormality of the wrist", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06212", "question": "What is associated with C2-C3 subluxation?", "seeds": [ "C2-C3 subluxation" ], "gold_answer": "Joint subluxation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06213", "question": "What is associated with Increased hepatitis A virus antibody level?", "seeds": [ "Increased hepatitis A virus antibody level" ], "gold_answer": "Increased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06214", "question": "What phenotype is associated with Parkinsonism-Dystonia, infantile, 1?", "seeds": [ "Parkinsonism-Dystonia, infantile, 1" ], "gold_answer": "Chorea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06215", "question": "What is associated with Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive?", "seeds": [ "Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive" ], "gold_answer": "Prematurely aged appearance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06216", "question": "What phenotype is associated with Hypothyroidism, congenital, nongoitrous, 5?", "seeds": [ "Hypothyroidism, congenital, nongoitrous, 5" ], "gold_answer": "Thyroid hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06217", "question": "What is associated with Occupational exposure to raw nonsynthetic textiles?", "seeds": [ "Occupational exposure to raw nonsynthetic textiles" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06218", "question": "What is associated with Short esophagus?", "seeds": [ "Short esophagus" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06219", "question": "What is associated with Joint subluxation?", "seeds": [ "Joint subluxation" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06220", "question": "What is associated with Fasting hyperinsulinemia?", "seeds": [ "Fasting hyperinsulinemia" ], "gold_answer": "Hyperinsulinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06221", "question": "What is associated with Multicentric osteolysis, nodulosis, and arthropathy?", "seeds": [ "Multicentric osteolysis, nodulosis, and arthropathy" ], "gold_answer": "C1-C2 vertebral abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06222", "question": "What phenotype is associated with Microcephaly 29, primary, autosomal recessive?", "seeds": [ "Microcephaly 29, primary, autosomal recessive" ], "gold_answer": "High forehead", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06223", "question": "What is associated with Air crescent?", "seeds": [ "Air crescent" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06224", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 40?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 40" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06225", "question": "What is associated with Cervical aortic arch?", "seeds": [ "Cervical aortic arch" ], "gold_answer": "Abnormal branching pattern of the aortic arch", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06226", "question": "What is associated with Autosomal dominant spastic paraplegia type 29?", "seeds": [ "Autosomal dominant spastic paraplegia type 29" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06227", "question": "What is associated with Increased level of gamma-aminobutyric acid in urine?", "seeds": [ "Increased level of gamma-aminobutyric acid in urine" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06228", "question": "What is associated with Positive Hawkins test?", "seeds": [ "Positive Hawkins test" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06229", "question": "What is associated with Proximal 16p11.2 microdeletion syndrome?", "seeds": [ "Proximal 16p11.2 microdeletion syndrome" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06230", "question": "What is associated with Cervical instability?", "seeds": [ "Cervical instability" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06231", "question": "What is associated with Ivory epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Ivory epiphysis of the proximal phalanx of the 4th finger" ], "gold_answer": "Abnormal 4th finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06232", "question": "What is associated with Generalized abnormality of skin?", "seeds": [ "Generalized abnormality of skin" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06233", "question": "What is associated with Bundle branch block, familial isolated complete right?", "seeds": [ "Bundle branch block, familial isolated complete right" ], "gold_answer": "Heart block", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06234", "question": "What is associated with Elevated urinary 2-oxoisocaproic level?", "seeds": [ "Elevated urinary 2-oxoisocaproic level" ], "gold_answer": "Increased urine proteinogenic amino acid derivative level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06235", "question": "What phenotype is associated with Thymoma, familial?", "seeds": [ "Thymoma, familial" ], "gold_answer": "Leukopenia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06236", "question": "What phenotype is associated with X-linked dystonia-parkinsonism?", "seeds": [ "X-linked dystonia-parkinsonism" ], "gold_answer": "Frequent falls", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06237", "question": "What is associated with Autoamputation of digits?", "seeds": [ "Autoamputation of digits" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06238", "question": "What is associated with Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome?", "seeds": [ "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome" ], "gold_answer": "Abnormal neck morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06239", "question": "What is associated with Reduced fecal osmolality?", "seeds": [ "Reduced fecal osmolality" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06240", "question": "What is associated with Subarterial ventricular septal defect?", "seeds": [ "Subarterial ventricular septal defect" ], "gold_answer": "Abnormal ventricular septum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06241", "question": "What is associated with Scheuermann disease?", "seeds": [ "Scheuermann disease" ], "gold_answer": "Avascular necrosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06242", "question": "What is associated with Cortical sclerosis?", "seeds": [ "Cortical sclerosis" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06243", "question": "What is associated with Cardiac rhabdomyoma?", "seeds": [ "Cardiac rhabdomyoma" ], "gold_answer": "Neoplasm of the heart", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06244", "question": "What phenotype is associated with MELAS?", "seeds": [ "MELAS" ], "gold_answer": "Nephropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06245", "question": "What phenotype is associated with Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome?", "seeds": [ "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" ], "gold_answer": "Large fleshy ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06246", "question": "What is associated with Blue rubber bleb nevus?", "seeds": [ "Blue rubber bleb nevus" ], "gold_answer": "TEK", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_06247", "question": "What is associated with Intrauterine fetal demise of one twin after midgestation?", "seeds": [ "Intrauterine fetal demise of one twin after midgestation" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06248", "question": "What is associated with Increased Z-disc width?", "seeds": [ "Increased Z-disc width" ], "gold_answer": "Abnormal sarcomere morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06249", "question": "What is associated with Parastremmatic dwarfism?", "seeds": [ "Parastremmatic dwarfism" ], "gold_answer": "Abnormal neck morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06250", "question": "What is associated with Fractured fused sacrum?", "seeds": [ "Fractured fused sacrum" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06251", "question": "What is associated with Pathologic fracture?", "seeds": [ "Pathologic fracture" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06252", "question": "What is associated with Upper motor neuron dysfunction?", "seeds": [ "Upper motor neuron dysfunction" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06253", "question": "What is associated with Glaucoma 1, open angle, O?", "seeds": [ "Glaucoma 1, open angle, O" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06254", "question": "What phenotype is associated with Amelogenesis imperfecta?", "seeds": [ "Amelogenesis imperfecta" ], "gold_answer": "Widely spaced teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06255", "question": "What is associated with Positive brain-tissue rabies nucleic acid test?", "seeds": [ "Positive brain-tissue rabies nucleic acid test" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06256", "question": "What is associated with Muscle fiber intracytoplasmic reducing inclusion bodies?", "seeds": [ "Muscle fiber intracytoplasmic reducing inclusion bodies" ], "gold_answer": "Muscle fiber cytoplasmatic inclusion bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06257", "question": "What is associated with Paramolar tubercle of bolk?", "seeds": [ "Paramolar tubercle of bolk" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06258", "question": "What is associated with Brain parenchymal tuberculoma?", "seeds": [ "Brain parenchymal tuberculoma" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06259", "question": "What is associated with Chondrosarcoma?", "seeds": [ "Chondrosarcoma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06260", "question": "What is associated with Prominent occiput?", "seeds": [ "Prominent occiput" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06261", "question": "What is associated with Neuropathy, hereditary, with liability to pressure palsies?", "seeds": [ "Neuropathy, hereditary, with liability to pressure palsies" ], "gold_answer": "Peripheral demyelination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06262", "question": "What is associated with Hypnopompic sleep paralysis?", "seeds": [ "Hypnopompic sleep paralysis" ], "gold_answer": "REM parasomnia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06263", "question": "What phenotype is associated with Blindness-scoliosis-arachnodactyly syndrome?", "seeds": [ "Blindness-scoliosis-arachnodactyly syndrome" ], "gold_answer": "Arachnodactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06264", "question": "What phenotype is associated with Severe hemophilia A?", "seeds": [ "Severe hemophilia A" ], "gold_answer": "Limb joint contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06265", "question": "What is associated with Abnormality of primary teeth?", "seeds": [ "Abnormality of primary teeth" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06266", "question": "What is associated with Episodic kinesigenic dyskinesia 1?", "seeds": [ "Episodic kinesigenic dyskinesia 1" ], "gold_answer": "Choreoathetosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06267", "question": "What is associated with Increased glucose-6-phosphate dehydrogenase level in dried blood spot?", "seeds": [ "Increased glucose-6-phosphate dehydrogenase level in dried blood spot" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06268", "question": "What phenotype is associated with Craniometadiaphyseal osteosclerosis with hip dysplasia?", "seeds": [ "Craniometadiaphyseal osteosclerosis with hip dysplasia" ], "gold_answer": "Abnormal pulmonary valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06269", "question": "What is associated with Gaze-evoked horizontal nystagmus?", "seeds": [ "Gaze-evoked horizontal nystagmus" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06270", "question": "What is associated with Small acrosomal area?", "seeds": [ "Small acrosomal area" ], "gold_answer": "Abnormal sperm head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06271", "question": "What is associated with Decreased circulating plasmalogen concentration?", "seeds": [ "Decreased circulating plasmalogen concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06272", "question": "What is associated with EEG with polyspike wave complexes?", "seeds": [ "EEG with polyspike wave complexes" ], "gold_answer": "EEG with generalized epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06273", "question": "What is associated with 3-methylcrotonyl-CoA carboxylase deficiency?", "seeds": [ "3-methylcrotonyl-CoA carboxylase deficiency" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06274", "question": "What is associated with Forceps delivery?", "seeds": [ "Forceps delivery" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06275", "question": "What is associated with Impaired cytokine signaling?", "seeds": [ "Impaired cytokine signaling" ], "gold_answer": "Abnormal cytokine signaling", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06276", "question": "What is associated with COFS syndrome?", "seeds": [ "COFS syndrome" ], "gold_answer": "Flexion contracture of finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06277", "question": "What is associated with Caribbean parkinsonism?", "seeds": [ "Caribbean parkinsonism" ], "gold_answer": "Abnormality of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06278", "question": "What is associated with Hyperinsulinemia?", "seeds": [ "Hyperinsulinemia" ], "gold_answer": "Abnormal circulating insulin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06279", "question": "What is associated with Advanced sleep phase syndrome, familial, 2?", "seeds": [ "Advanced sleep phase syndrome, familial, 2" ], "gold_answer": "Headache", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06280", "question": "What is associated with Hyperphosphaturia?", "seeds": [ "Hyperphosphaturia" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06281", "question": "What is associated with Abnormality of the distal phalanx of the 5th toe?", "seeds": [ "Abnormality of the distal phalanx of the 5th toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06282", "question": "What is associated with Broad middle phalanx of the 5th toe?", "seeds": [ "Broad middle phalanx of the 5th toe" ], "gold_answer": "Broad phalanges of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06283", "question": "What is associated with Enlarged epiphyses of the 2nd toe?", "seeds": [ "Enlarged epiphyses of the 2nd toe" ], "gold_answer": "Enlarged epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06284", "question": "What is associated with RECON progeroid syndrome?", "seeds": [ "RECON progeroid syndrome" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06285", "question": "What phenotype is associated with Microphthalmia, syndromic 13?", "seeds": [ "Microphthalmia, syndromic 13" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06286", "question": "What is associated with Hypogonadotropic hypogonadism 2 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 2 with or without anosmia" ], "gold_answer": "Abnormal eating behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06287", "question": "What is associated with Thrombophilia, hereditary, due to protein S deficiency, autosomal?", "seeds": [ "Thrombophilia, hereditary, due to protein S deficiency, autosomal" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06288", "question": "What phenotype is associated with Heparin cofactor II deficiency?", "seeds": [ "Heparin cofactor II deficiency" ], "gold_answer": "Recurrent deep vein thrombosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06289", "question": "What is associated with Increased serum zinc?", "seeds": [ "Increased serum zinc" ], "gold_answer": "Abnormal blood transition element cation concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06290", "question": "What is associated with Reduced contrast sensitivity?", "seeds": [ "Reduced contrast sensitivity" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06291", "question": "What is associated with Infantile onset?", "seeds": [ "Infantile onset" ], "gold_answer": "Pediatric onset", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06292", "question": "What phenotype is associated with Ehlers-Danlos syndrome, arthrochalasia type, 1?", "seeds": [ "Ehlers-Danlos syndrome, arthrochalasia type, 1" ], "gold_answer": "Congenital bilateral hip dislocation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06293", "question": "What is associated with Elevated haptoglobin level?", "seeds": [ "Elevated haptoglobin level" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06294", "question": "What is associated with Personality changes?", "seeds": [ "Personality changes" ], "gold_answer": "Impairment in personality functioning", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06295", "question": "What is associated with Hepatic melanin-like lysosomal pigmentation?", "seeds": [ "Hepatic melanin-like lysosomal pigmentation" ], "gold_answer": "Abnormal hepatocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06296", "question": "What is associated with Decreased RV/TLC ratio?", "seeds": [ "Decreased RV/TLC ratio" ], "gold_answer": "Abnormal RV/TLC ratio", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06297", "question": "What is associated with Pericardial late gadolinium enhancement?", "seeds": [ "Pericardial late gadolinium enhancement" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06298", "question": "What is associated with C1-C2 subluxation?", "seeds": [ "C1-C2 subluxation" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06299", "question": "What phenotype is associated with Brachytelephalangy-dysmorphism-Kallmann syndrome?", "seeds": [ "Brachytelephalangy-dysmorphism-Kallmann syndrome" ], "gold_answer": "Hypoplasia of the zygomatic bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06300", "question": "What is associated with Salivary gland neoplasm?", "seeds": [ "Salivary gland neoplasm" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06301", "question": "What is associated with Mesenteric venous thrombosis?", "seeds": [ "Mesenteric venous thrombosis" ], "gold_answer": "Venous thrombosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06302", "question": "What is associated with Osteolytic defects of the distal phalanx of the 3rd finger?", "seeds": [ "Osteolytic defects of the distal phalanx of the 3rd finger" ], "gold_answer": "Osteolytic defects of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06303", "question": "What is associated with Pseudoaneurysm?", "seeds": [ "Pseudoaneurysm" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06304", "question": "What is associated with Niemann-Pick disease type C, juvenile neurologic onset?", "seeds": [ "Niemann-Pick disease type C, juvenile neurologic onset" ], "gold_answer": "NPC1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06305", "question": "What is associated with Increased HLA DR+ CD8+ T cell proportion?", "seeds": [ "Increased HLA DR+ CD8+ T cell proportion" ], "gold_answer": "Abnormal CD8+ T cell subset proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06306", "question": "What is associated with Neutropenia, severe congenital, 12, autosomal recessive?", "seeds": [ "Neutropenia, severe congenital, 12, autosomal recessive" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06307", "question": "What is associated with Distal clavicular thinning?", "seeds": [ "Distal clavicular thinning" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06308", "question": "What is associated with Optic atrophy 3, autosomal dominant?", "seeds": [ "Optic atrophy 3, autosomal dominant" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06309", "question": "What is associated with Fixed facial expression?", "seeds": [ "Fixed facial expression" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06310", "question": "What is associated with Severe sensorineural hearing impairment?", "seeds": [ "Severe sensorineural hearing impairment" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06311", "question": "What is associated with Persistent mullerian duct syndrome, types I and II?", "seeds": [ "Persistent mullerian duct syndrome, types I and II" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06312", "question": "What is associated with Ciliary dyskinesia, primary, 15?", "seeds": [ "Ciliary dyskinesia, primary, 15" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06313", "question": "What is associated with Morning glory anomaly?", "seeds": [ "Morning glory anomaly" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06314", "question": "What is associated with Renal arteriolar intraluminal thrombi?", "seeds": [ "Renal arteriolar intraluminal thrombi" ], "gold_answer": "Abnormal renal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06315", "question": "What phenotype is associated with Inflammatory bowel disease 25, early onset, autosomal recessive?", "seeds": [ "Inflammatory bowel disease 25, early onset, autosomal recessive" ], "gold_answer": "Folliculitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06316", "question": "What is associated with Severe toxoplasmosis?", "seeds": [ "Severe toxoplasmosis" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06317", "question": "What is associated with Reduced circulating erythropoietin concentration?", "seeds": [ "Reduced circulating erythropoietin concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06318", "question": "What is associated with Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1?", "seeds": [ "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" ], "gold_answer": "Abnormal corpus callosum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06319", "question": "What is associated with Pink urine?", "seeds": [ "Pink urine" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06320", "question": "What is associated with Stippling of the epiphyses of the distal phalanges of the hand?", "seeds": [ "Stippling of the epiphyses of the distal phalanges of the hand" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06321", "question": "What phenotype is associated with Brown-Vialetto-Van Laere syndrome 1?", "seeds": [ "Brown-Vialetto-Van Laere syndrome 1" ], "gold_answer": "External ophthalmoplegia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06322", "question": "What is associated with Spatulate thumbs?", "seeds": [ "Spatulate thumbs" ], "gold_answer": "Broad phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06323", "question": "What phenotype is associated with Cardiac valvular defect, developmental?", "seeds": [ "Cardiac valvular defect, developmental" ], "gold_answer": "Atrial septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06324", "question": "What phenotype is associated with Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06325", "question": "What is associated with Reduced muscle dystrophin expression?", "seeds": [ "Reduced muscle dystrophin expression" ], "gold_answer": "Abnormal muscle fiber dystrophin expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06326", "question": "What is associated with Primary congenital glaucoma?", "seeds": [ "Primary congenital glaucoma" ], "gold_answer": "Developmental glaucoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06327", "question": "What is associated with Spinocerebellar ataxia 49?", "seeds": [ "Spinocerebellar ataxia 49" ], "gold_answer": "Inability to walk", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06328", "question": "What phenotype is associated with Systemic lupus erythematosus 16?", "seeds": [ "Systemic lupus erythematosus 16" ], "gold_answer": "Chorea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06329", "question": "What is associated with White forelock with malformations?", "seeds": [ "White forelock with malformations" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06330", "question": "What is associated with Extension of hair growth on temples to lateral eyebrow?", "seeds": [ "Extension of hair growth on temples to lateral eyebrow" ], "gold_answer": "Abnormality of the frontal hairline", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06331", "question": "What is associated with Metabolic alkalosis?", "seeds": [ "Metabolic alkalosis" ], "gold_answer": "Alkalosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06332", "question": "What is associated with Cardiomyopathy, dilated, 1BB?", "seeds": [ "Cardiomyopathy, dilated, 1BB" ], "gold_answer": "Heart block", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06333", "question": "What is associated with Neoplasm by histology?", "seeds": [ "Neoplasm by histology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06334", "question": "What is associated with 1-2 toe syndactyly?", "seeds": [ "1-2 toe syndactyly" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06335", "question": "What is associated with Aplastic/Hypoplastic nasopharyngeal adenoids?", "seeds": [ "Aplastic/Hypoplastic nasopharyngeal adenoids" ], "gold_answer": "Abnormal pharynx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06336", "question": "What is associated with Bleeding disorder, platelet-type, 13, susceptibility to?", "seeds": [ "Bleeding disorder, platelet-type, 13, susceptibility to" ], "gold_answer": "Macular purpura", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06337", "question": "What phenotype is associated with Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome?", "seeds": [ "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome" ], "gold_answer": "Retinal arteriolar tortuosity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06338", "question": "What is associated with Elevated circulating glutaric acid concentration?", "seeds": [ "Elevated circulating glutaric acid concentration" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06339", "question": "What is associated with Abdominal ectopia cordis?", "seeds": [ "Abdominal ectopia cordis" ], "gold_answer": "Abnormal anatomic location of the heart", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06340", "question": "What is associated with Enlarged lunula?", "seeds": [ "Enlarged lunula" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06341", "question": "What is associated with Hypercholanemia, familial 2?", "seeds": [ "Hypercholanemia, familial 2" ], "gold_answer": "Abnormal circulating monocarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06342", "question": "What is associated with Thickened mitral valve cusp?", "seeds": [ "Thickened mitral valve cusp" ], "gold_answer": "Abnormal mitral valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06343", "question": "What is associated with Thickened cortex of the ulna?", "seeds": [ "Thickened cortex of the ulna" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06344", "question": "What is associated with Reduced tissue thymidine phosphorylase activity?", "seeds": [ "Reduced tissue thymidine phosphorylase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06345", "question": "What is associated with Rimmed vacuoles?", "seeds": [ "Rimmed vacuoles" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06346", "question": "What is associated with Reduced tissue palmitoyl-protein thioesterase activity?", "seeds": [ "Reduced tissue palmitoyl-protein thioesterase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06347", "question": "What is associated with Antineutrophil antibody positivity?", "seeds": [ "Antineutrophil antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06348", "question": "What is associated with CAMPTOBRACHYDACTYLY?", "seeds": [ "CAMPTOBRACHYDACTYLY" ], "gold_answer": "Polydactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06349", "question": "What is associated with Medial/intimal arcuate venosclerosis?", "seeds": [ "Medial/intimal arcuate venosclerosis" ], "gold_answer": "Abnormal arcuate vein morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06350", "question": "What phenotype is associated with Nuchal bleb, familial?", "seeds": [ "Nuchal bleb, familial" ], "gold_answer": "Hydrops fetalis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06351", "question": "What is associated with Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction?", "seeds": [ "Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06352", "question": "What is associated with Small distal femoral epiphysis?", "seeds": [ "Small distal femoral epiphysis" ], "gold_answer": "Abnormal lower limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06353", "question": "What is associated with Spondylocostal dysostosis 5?", "seeds": [ "Spondylocostal dysostosis 5" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06354", "question": "What is associated with Chromosome 3q29 deletion syndrome?", "seeds": [ "Chromosome 3q29 deletion syndrome" ], "gold_answer": "Abnormality of upper lip vermillion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06355", "question": "What phenotype is associated with Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome?", "seeds": [ "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome" ], "gold_answer": "Broad columella", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06356", "question": "What is associated with Okihiro syndrome due to 20q13 microdeletion?", "seeds": [ "Okihiro syndrome due to 20q13 microdeletion" ], "gold_answer": "SALL4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "role_in_the_phenotype_of" } }, { "query_id": "orph_train_06357", "question": "What is associated with Abnormal buccal mucosa morphology?", "seeds": [ "Abnormal buccal mucosa morphology" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06358", "question": "What is associated with Pareidolia?", "seeds": [ "Pareidolia" ], "gold_answer": "Disturbed perception with a stimulus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06359", "question": "What is associated with Increased urinary 11-deoxycortisol level?", "seeds": [ "Increased urinary 11-deoxycortisol level" ], "gold_answer": "Abnormal urine hormone level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06360", "question": "What phenotype is associated with Arterial tortuosity syndrome?", "seeds": [ "Arterial tortuosity syndrome" ], "gold_answer": "Hiatus hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06361", "question": "What is associated with Fast-growing nails?", "seeds": [ "Fast-growing nails" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06362", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 71?", "seeds": [ "Epileptic encephalopathy, early infantile, 71" ], "gold_answer": "Simplified gyral pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06363", "question": "What is associated with Osteosclerotic metaphyseal dysplasia?", "seeds": [ "Osteosclerotic metaphyseal dysplasia" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06364", "question": "What phenotype is associated with Colorectal cancer, susceptibility to, 12?", "seeds": [ "Colorectal cancer, susceptibility to, 12" ], "gold_answer": "Carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06365", "question": "What is associated with Partial abdominal muscle agenesis?", "seeds": [ "Partial abdominal muscle agenesis" ], "gold_answer": "Abnormal morphology of the abdominal musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06366", "question": "What is associated with Trichothiodystrophy 1, photosensitive?", "seeds": [ "Trichothiodystrophy 1, photosensitive" ], "gold_answer": "Joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06367", "question": "What is associated with Aortic smooth muscle cell nuclei loss?", "seeds": [ "Aortic smooth muscle cell nuclei loss" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06368", "question": "What is associated with Hypoplasia of maxilla relative to mandible?", "seeds": [ "Hypoplasia of maxilla relative to mandible" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06369", "question": "What is associated with Paraganglioma of head and neck?", "seeds": [ "Paraganglioma of head and neck" ], "gold_answer": "Paraganglioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06370", "question": "What is associated with Cone-shaped epiphysis of the distal phalanx of the 5th finger?", "seeds": [ "Cone-shaped epiphysis of the distal phalanx of the 5th finger" ], "gold_answer": "Cone-shaped epiphyses of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06371", "question": "What is associated with STING-associated vasculopathy with onset in infancy?", "seeds": [ "STING-associated vasculopathy with onset in infancy" ], "gold_answer": "STING1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_train_06372", "question": "What is associated with Sulfocysteinuria?", "seeds": [ "Sulfocysteinuria" ], "gold_answer": "Increased proteinogenic amino acid level in urine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06373", "question": "What is associated with Lumbar spinal canal stenosis?", "seeds": [ "Lumbar spinal canal stenosis" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06374", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 106?", "seeds": [ "Developmental and epileptic encephalopathy 106" ], "gold_answer": "Cerebellar hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06375", "question": "What is associated with Arrhythmogenic right ventricular dysplasia, familial, 14?", "seeds": [ "Arrhythmogenic right ventricular dysplasia, familial, 14" ], "gold_answer": "Ventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06376", "question": "What is associated with Localized osteoporosis?", "seeds": [ "Localized osteoporosis" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06377", "question": "What is associated with Bitemporal hollowing?", "seeds": [ "Bitemporal hollowing" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06378", "question": "What is associated with Oocyte maturation defect 7?", "seeds": [ "Oocyte maturation defect 7" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06379", "question": "What is associated with Advanced eruption of teeth?", "seeds": [ "Advanced eruption of teeth" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06380", "question": "What phenotype is associated with Porokeratosis of Mibelli?", "seeds": [ "Porokeratosis of Mibelli" ], "gold_answer": "Hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06381", "question": "What is associated with Decreased post-bronchodilator forced expiratory volume in one second?", "seeds": [ "Decreased post-bronchodilator forced expiratory volume in one second" ], "gold_answer": "Reduced forced expiratory volume in one second", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06382", "question": "What is associated with Short middle phalanx of the 5th toe?", "seeds": [ "Short middle phalanx of the 5th toe" ], "gold_answer": "Abnormality of the middle phalanx of the 5th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06383", "question": "What is associated with Crome syndrome?", "seeds": [ "Crome syndrome" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06384", "question": "What is associated with Elevated circulating cartilage oligomeric matrix protein concentration?", "seeds": [ "Elevated circulating cartilage oligomeric matrix protein concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06385", "question": "What is associated with Positive stool glutamate dehydrogenase test?", "seeds": [ "Positive stool glutamate dehydrogenase test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06386", "question": "What is associated with Polymicrogyria with optic nerve hypoplasia?", "seeds": [ "Polymicrogyria with optic nerve hypoplasia" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06387", "question": "What is associated with Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome?", "seeds": [ "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06388", "question": "What is associated with Spinocerebellar ataxia 29, congenital nonprogressive?", "seeds": [ "Spinocerebellar ataxia 29, congenital nonprogressive" ], "gold_answer": "Hyperactivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06389", "question": "What is associated with Papillon-Lefèvre syndrome?", "seeds": [ "Papillon-Lefèvre syndrome" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06390", "question": "What is associated with Increased circulating beta-carotene concentration?", "seeds": [ "Increased circulating beta-carotene concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06391", "question": "What is associated with Immunodeficiency 39?", "seeds": [ "Immunodeficiency 39" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06392", "question": "What phenotype is associated with Cocaine embryofetopathy?", "seeds": [ "Cocaine embryofetopathy" ], "gold_answer": "Encephalocele", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06393", "question": "What is associated with Extramammary Paget disease?", "seeds": [ "Extramammary Paget disease" ], "gold_answer": "ERBB2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_06394", "question": "What phenotype is associated with Primary ciliary dyskinesia?", "seeds": [ "Primary ciliary dyskinesia" ], "gold_answer": "Aplasia/Hypoplasia of the thymus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06395", "question": "What phenotype is associated with Central areolar choroidal dystrophy?", "seeds": [ "Central areolar choroidal dystrophy" ], "gold_answer": "Choriocapillaris atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06396", "question": "What is associated with Glomerular capillary congestion?", "seeds": [ "Glomerular capillary congestion" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06397", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 102?", "seeds": [ "Developmental and epileptic encephalopathy 102" ], "gold_answer": "Gastroesophageal reflux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06398", "question": "What is associated with Abnormal capillary physiology?", "seeds": [ "Abnormal capillary physiology" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06399", "question": "What is associated with Enlarged joints?", "seeds": [ "Enlarged joints" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06400", "question": "What is associated with Whole-immunoglobulin paraproteinemia?", "seeds": [ "Whole-immunoglobulin paraproteinemia" ], "gold_answer": "Increased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06401", "question": "What phenotype is associated with Thanatophoric dysplasia, type II?", "seeds": [ "Thanatophoric dysplasia, type II" ], "gold_answer": "Cloverleaf skull", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06402", "question": "What is associated with Abnormal stereopsis?", "seeds": [ "Abnormal stereopsis" ], "gold_answer": "Abnormality of binocular vision", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06403", "question": "What is associated with Fullness of paranasal tissue?", "seeds": [ "Fullness of paranasal tissue" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06404", "question": "What phenotype is associated with Muscular dystrophy, limb-girdle, type 2H?", "seeds": [ "Muscular dystrophy, limb-girdle, type 2H" ], "gold_answer": "Areflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06405", "question": "What is associated with Perinephric abscess?", "seeds": [ "Perinephric abscess" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06406", "question": "What is associated with Diminished neutrophil myeloperoxidase activity?", "seeds": [ "Diminished neutrophil myeloperoxidase activity" ], "gold_answer": "Abnormal granulocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06407", "question": "What is associated with Tracheal tug on inspiration?", "seeds": [ "Tracheal tug on inspiration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06408", "question": "What is associated with Small acrosomal area?", "seeds": [ "Small acrosomal area" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06409", "question": "What is associated with Abnormal circulating estrogen level?", "seeds": [ "Abnormal circulating estrogen level" ], "gold_answer": "Abnormal circulating sex hormone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06410", "question": "What is associated with Autosomal recessive spastic paraplegia type 56?", "seeds": [ "Autosomal recessive spastic paraplegia type 56" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06411", "question": "What is associated with Broad lateral eyebrow?", "seeds": [ "Broad lateral eyebrow" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06412", "question": "What is associated with Depletion of mitochondrial DNA in muscle tissue?", "seeds": [ "Depletion of mitochondrial DNA in muscle tissue" ], "gold_answer": "Abnormality of the mitochondrion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06413", "question": "What is associated with Positive trunk flexion test?", "seeds": [ "Positive trunk flexion test" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06414", "question": "What is associated with Slow pupillary light response?", "seeds": [ "Slow pupillary light response" ], "gold_answer": "Abnormal pupillary function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06415", "question": "What is associated with Hyperpigmentation in sun-exposed areas?", "seeds": [ "Hyperpigmentation in sun-exposed areas" ], "gold_answer": "Hyperpigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06416", "question": "What is associated with Vascular hamartoma?", "seeds": [ "Vascular hamartoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06417", "question": "What is associated with Epilepsy, familial adult myoclonic, 2?", "seeds": [ "Epilepsy, familial adult myoclonic, 2" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06418", "question": "What is associated with Leber congenital amaurosis 13?", "seeds": [ "Leber congenital amaurosis 13" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06419", "question": "What is associated with Vitiligo-Associated multiple autoimmune disease susceptibility 1?", "seeds": [ "Vitiligo-Associated multiple autoimmune disease susceptibility 1" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06420", "question": "What is associated with Upper eyelid edema?", "seeds": [ "Upper eyelid edema" ], "gold_answer": "Palpebral edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06421", "question": "What phenotype is associated with Immunodeficiency 79?", "seeds": [ "Immunodeficiency 79" ], "gold_answer": "Disseminated cutaneous warts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06422", "question": "What is associated with Loose body in joint?", "seeds": [ "Loose body in joint" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06423", "question": "What phenotype is associated with Deafness, autosomal dominant 37?", "seeds": [ "Deafness, autosomal dominant 37" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06424", "question": "What is associated with Decreased FOXP3-expressing T cell count?", "seeds": [ "Decreased FOXP3-expressing T cell count" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06425", "question": "What is associated with Anti-Hu antibody positivity?", "seeds": [ "Anti-Hu antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06426", "question": "What is associated with Increased serum estradiol?", "seeds": [ "Increased serum estradiol" ], "gold_answer": "Abnormal serum estradiol", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06427", "question": "What phenotype is associated with Amelogenesis imperfecta, type IF?", "seeds": [ "Amelogenesis imperfecta, type IF" ], "gold_answer": "Amelogenesis imperfecta", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06428", "question": "What is associated with Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities?", "seeds": [ "Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities" ], "gold_answer": "Upper limb undergrowth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06429", "question": "What is associated with Menkes disease?", "seeds": [ "Menkes disease" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06430", "question": "What is associated with Iris coloboma?", "seeds": [ "Iris coloboma" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06431", "question": "What is associated with Reduced circulating interleukin 12 concentration?", "seeds": [ "Reduced circulating interleukin 12 concentration" ], "gold_answer": "Abnormal circulating interleukin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06432", "question": "What is associated with Oral leukoplakia?", "seeds": [ "Oral leukoplakia" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06433", "question": "What phenotype is associated with Attention deficit-hyperactivity disorder 8?", "seeds": [ "Attention deficit-hyperactivity disorder 8" ], "gold_answer": "Attention deficit hyperactivity disorder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06434", "question": "What is associated with Ureterovesical stenosis?", "seeds": [ "Ureterovesical stenosis" ], "gold_answer": "Abnormal ureter physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06435", "question": "What is associated with Focal absence of the external ear?", "seeds": [ "Focal absence of the external ear" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06436", "question": "What is associated with 11q22.2q22.3 microdeletion syndrome?", "seeds": [ "11q22.2q22.3 microdeletion syndrome" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06437", "question": "What is associated with Venous thrombosis?", "seeds": [ "Venous thrombosis" ], "gold_answer": "Abnormal thrombosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06438", "question": "What is associated with Immunodeficiency 13?", "seeds": [ "Immunodeficiency 13" ], "gold_answer": "Abnormal leukocyte count", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06439", "question": "What is associated with Plasmacytoma?", "seeds": [ "Plasmacytoma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06440", "question": "What phenotype is associated with Spermatogenic failure 23?", "seeds": [ "Spermatogenic failure 23" ], "gold_answer": "Male infertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06441", "question": "What is associated with Pancreatic fistula?", "seeds": [ "Pancreatic fistula" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06442", "question": "What is associated with Gastric lymphoma?", "seeds": [ "Gastric lymphoma" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06443", "question": "What is associated with Abnormal brain morphology?", "seeds": [ "Abnormal brain morphology" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06444", "question": "What is associated with T-cell large granular lymphocyte leukemia?", "seeds": [ "T-cell large granular lymphocyte leukemia" ], "gold_answer": "STAT3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_06445", "question": "What is associated with Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4?", "seeds": [ "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06446", "question": "What is associated with Reduced TSH response to thyrotrophin-releasing hormone stimulation test?", "seeds": [ "Reduced TSH response to thyrotrophin-releasing hormone stimulation test" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06447", "question": "What is associated with Neurodevelopmental disorder with seizures and brain abnormalities?", "seeds": [ "Neurodevelopmental disorder with seizures and brain abnormalities" ], "gold_answer": "Diagnostic behavioral phenotype", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06448", "question": "What is associated with Ulnar metaphyseal irregularity?", "seeds": [ "Ulnar metaphyseal irregularity" ], "gold_answer": "Metaphyseal irregularity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06449", "question": "What is associated with Abnormal vascular physiology?", "seeds": [ "Abnormal vascular physiology" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06450", "question": "What is associated with Stercoral ulcer?", "seeds": [ "Stercoral ulcer" ], "gold_answer": "Abnormal digestive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06451", "question": "What is associated with Thick growth plates?", "seeds": [ "Thick growth plates" ], "gold_answer": "Abnormal growth plate morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06452", "question": "What is associated with Benign hereditary chorea?", "seeds": [ "Benign hereditary chorea" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06453", "question": "What is associated with Abnormal flow cytometry test result?", "seeds": [ "Abnormal flow cytometry test result" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06454", "question": "What is associated with Deafness-craniofacial syndrome?", "seeds": [ "Deafness-craniofacial syndrome" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06455", "question": "What is associated with Trapezoidal vertebral body?", "seeds": [ "Trapezoidal vertebral body" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06456", "question": "What is associated with Neoplasm of the thymus?", "seeds": [ "Neoplasm of the thymus" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06457", "question": "What phenotype is associated with Charcot-Marie-Tooth disease type 2B1?", "seeds": [ "Charcot-Marie-Tooth disease type 2B1" ], "gold_answer": "Proximal muscle weakness in lower limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06458", "question": "What is associated with Renal medullary pyramid hypoplasia?", "seeds": [ "Renal medullary pyramid hypoplasia" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06459", "question": "What is associated with Decreased FOXP3-expressing T cell count?", "seeds": [ "Decreased FOXP3-expressing T cell count" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06460", "question": "What is associated with Bracket epiphyses of the hallux?", "seeds": [ "Bracket epiphyses of the hallux" ], "gold_answer": "Bracket epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06461", "question": "What phenotype is associated with Cranioectodermal dysplasia 2?", "seeds": [ "Cranioectodermal dysplasia 2" ], "gold_answer": "Cystic hygroma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06462", "question": "What is associated with Enlarged epididymis?", "seeds": [ "Enlarged epididymis" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06463", "question": "What is associated with Secondary Caesarian section?", "seeds": [ "Secondary Caesarian section" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06464", "question": "What is associated with Curved distal phalanx of the 2nd toe?", "seeds": [ "Curved distal phalanx of the 2nd toe" ], "gold_answer": "Abnormal 2nd toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06465", "question": "What is associated with Trichinellosis?", "seeds": [ "Trichinellosis" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06466", "question": "What is associated with Uric acid nephrolithiasis?", "seeds": [ "Uric acid nephrolithiasis" ], "gold_answer": "Nephrolithiasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06467", "question": "What is associated with Fractured proximal phalanx of digit 5?", "seeds": [ "Fractured proximal phalanx of digit 5" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06468", "question": "What is associated with Spastic paraplegia 36, autosomal dominant?", "seeds": [ "Spastic paraplegia 36, autosomal dominant" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06469", "question": "What is associated with Hepatic lipase deficiency?", "seeds": [ "Hepatic lipase deficiency" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06470", "question": "What is associated with Splenopancreatic fusion?", "seeds": [ "Splenopancreatic fusion" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06471", "question": "What is associated with Coronary artery spasm?", "seeds": [ "Coronary artery spasm" ], "gold_answer": "Abnormal arterial physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06472", "question": "What is associated with Postaxial hand polydactyly?", "seeds": [ "Postaxial hand polydactyly" ], "gold_answer": "Duplication of hand bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06473", "question": "What phenotype is associated with Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia?", "seeds": [ "Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" ], "gold_answer": "Limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06474", "question": "What phenotype is associated with Noduli cutanei, multiple, with urinary tract abnormalities?", "seeds": [ "Noduli cutanei, multiple, with urinary tract abnormalities" ], "gold_answer": "Duplicated collecting system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06475", "question": "What is associated with Sclerosis of the middle phalanx of the 3rd toe?", "seeds": [ "Sclerosis of the middle phalanx of the 3rd toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06476", "question": "What is associated with Increased fetal head circumference?", "seeds": [ "Increased fetal head circumference" ], "gold_answer": "Abnormal fetal head circumference", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06477", "question": "What is associated with Dermal ridges, nelson syndrome?", "seeds": [ "Dermal ridges, nelson syndrome" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06478", "question": "What is associated with Triangular shaped distal phalanx of the 5th toe?", "seeds": [ "Triangular shaped distal phalanx of the 5th toe" ], "gold_answer": "Abnormality of the phalanges of the 5th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06479", "question": "What is associated with Nephrotic syndrome, type 15?", "seeds": [ "Nephrotic syndrome, type 15" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06480", "question": "What phenotype is associated with Developmental delay-facial dysmorphism syndrome due to MED13L deficiency?", "seeds": [ "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency" ], "gold_answer": "Downturned corners of mouth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06481", "question": "What is associated with Pure ground-glass pulmonary nodule?", "seeds": [ "Pure ground-glass pulmonary nodule" ], "gold_answer": "Subsolid pulmonary nodule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06482", "question": "What is associated with Focal aware vocal automatism seizure?", "seeds": [ "Focal aware vocal automatism seizure" ], "gold_answer": "Focal aware automatism seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06483", "question": "What is associated with Arcuate intimal/medial granulomatous venulitis?", "seeds": [ "Arcuate intimal/medial granulomatous venulitis" ], "gold_answer": "Abnormal arcuate vein morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06484", "question": "What is associated with FLNC-related handgrip and calf weakness-distal myopathy?", "seeds": [ "FLNC-related handgrip and calf weakness-distal myopathy" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06485", "question": "What is associated with Distal fifth finger symphalangism?", "seeds": [ "Distal fifth finger symphalangism" ], "gold_answer": "Finger symphalangism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06486", "question": "What is associated with Congenital muscular dystrophy with integrin alpha-7 deficiency?", "seeds": [ "Congenital muscular dystrophy with integrin alpha-7 deficiency" ], "gold_answer": "ITGA7", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06487", "question": "What is associated with Immunodeficiency, common variable, 14?", "seeds": [ "Immunodeficiency, common variable, 14" ], "gold_answer": "Decreased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06488", "question": "What is associated with Hyperphosphatasia-intellectual disability syndrome?", "seeds": [ "Hyperphosphatasia-intellectual disability syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the nails", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06489", "question": "What is associated with BRESEK syndrome?", "seeds": [ "BRESEK syndrome" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06490", "question": "What is associated with Reduced muscle enolase activity?", "seeds": [ "Reduced muscle enolase activity" ], "gold_answer": "Abnormal enzyme activity in muscle tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06491", "question": "What is associated with Palmar hyperlinearity?", "seeds": [ "Palmar hyperlinearity" ], "gold_answer": "Abnormal palm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06492", "question": "What is associated with Retinitis pigmentosa 25?", "seeds": [ "Retinitis pigmentosa 25" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06493", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 43?", "seeds": [ "Epileptic encephalopathy, early infantile, 43" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06494", "question": "What is associated with Exercise-induced hemolysis?", "seeds": [ "Exercise-induced hemolysis" ], "gold_answer": "Hemolytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06495", "question": "What is associated with Myoclonic spasms?", "seeds": [ "Myoclonic spasms" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06496", "question": "What is associated with Epilepsy, nocturnal frontal lobe, 5?", "seeds": [ "Epilepsy, nocturnal frontal lobe, 5" ], "gold_answer": "Abnormal psychotic pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06497", "question": "What is associated with Bullet-shaped middle phalanx of toe?", "seeds": [ "Bullet-shaped middle phalanx of toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06498", "question": "What is associated with Abnormal platelet membrane protein expression?", "seeds": [ "Abnormal platelet membrane protein expression" ], "gold_answer": "Abnormal platelet function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06499", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 12?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 12" ], "gold_answer": "Generalized-onset motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06500", "question": "What phenotype is associated with Dyserythropoiesis, congenital, with ultrastructurally normal erythroblastheterochromatin?", "seeds": [ "Dyserythropoiesis, congenital, with ultrastructurally normal erythroblastheterochromatin" ], "gold_answer": "Anisocytosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06501", "question": "What phenotype is associated with Perrault syndrome 5?", "seeds": [ "Perrault syndrome 5" ], "gold_answer": "Primary amenorrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06502", "question": "What is associated with Thick anterior alveolar ridges?", "seeds": [ "Thick anterior alveolar ridges" ], "gold_answer": "Alveolar ridge overgrowth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06503", "question": "What is associated with Trichothiodystrophy 9, nonphotosensitive?", "seeds": [ "Trichothiodystrophy 9, nonphotosensitive" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06504", "question": "What is associated with Complete duplication of hallux phalanx?", "seeds": [ "Complete duplication of hallux phalanx" ], "gold_answer": "Duplication of phalanx of hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06505", "question": "What is associated with Coma?", "seeds": [ "Coma" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06506", "question": "What is associated with Glaucoma 3, primary congenital, A?", "seeds": [ "Glaucoma 3, primary congenital, A" ], "gold_answer": "Abnormally large globe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06507", "question": "What is associated with Hypoperistalsis?", "seeds": [ "Hypoperistalsis" ], "gold_answer": "Abnormal gastrointestinal motility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06508", "question": "What is associated with Descending aortic dissection?", "seeds": [ "Descending aortic dissection" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06509", "question": "What phenotype is associated with Microsporidiosis?", "seeds": [ "Microsporidiosis" ], "gold_answer": "Sinusitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06510", "question": "What is associated with Abnormal circulating serine concentration?", "seeds": [ "Abnormal circulating serine concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06511", "question": "What is associated with Penile freckling?", "seeds": [ "Penile freckling" ], "gold_answer": "Abnormal penis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06512", "question": "What is associated with Developmental and epileptic encephalopathy 112?", "seeds": [ "Developmental and epileptic encephalopathy 112" ], "gold_answer": "Disinhibition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06513", "question": "What is associated with Oval macrocytosis?", "seeds": [ "Oval macrocytosis" ], "gold_answer": "Poikilocytosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06514", "question": "What is associated with Parkinsonism-dystonia, infantile, 2?", "seeds": [ "Parkinsonism-dystonia, infantile, 2" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06515", "question": "What is associated with Typically de novo?", "seeds": [ "Typically de novo" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06516", "question": "What is associated with Maintenance insomnia?", "seeds": [ "Maintenance insomnia" ], "gold_answer": "Insomnia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06517", "question": "What is associated with Hyperechogenic pancreas?", "seeds": [ "Hyperechogenic pancreas" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06518", "question": "What phenotype is associated with Thyroid hormonogenesis, genetic defect in, 4?", "seeds": [ "Thyroid hormonogenesis, genetic defect in, 4" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06519", "question": "What is associated with Atresia of the Eustachian tube?", "seeds": [ "Atresia of the Eustachian tube" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06520", "question": "What is associated with Cutis laxa, autosomal recessive, type IIA?", "seeds": [ "Cutis laxa, autosomal recessive, type IIA" ], "gold_answer": "Intracranial cystic lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06521", "question": "What is associated with Abnormal mandibular ramus morphology?", "seeds": [ "Abnormal mandibular ramus morphology" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06522", "question": "What is associated with Abnormal auditory evoked potentials?", "seeds": [ "Abnormal auditory evoked potentials" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06523", "question": "What is associated with Collagenoma, familial cutaneous?", "seeds": [ "Collagenoma, familial cutaneous" ], "gold_answer": "Atrioventricular valve regurgitation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06524", "question": "What phenotype is associated with Leukoencephalopathy, progressive, infantile-onset, with or without deafness?", "seeds": [ "Leukoencephalopathy, progressive, infantile-onset, with or without deafness" ], "gold_answer": "Congenital sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06525", "question": "What is associated with Subretinal hyporeflective spaces on macular OCT?", "seeds": [ "Subretinal hyporeflective spaces on macular OCT" ], "gold_answer": "Abnormal retinal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06526", "question": "What is associated with Interlobular vein medial hypertrophy?", "seeds": [ "Interlobular vein medial hypertrophy" ], "gold_answer": "Abnormal interlobular vein intima/media morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06527", "question": "What is associated with Increased urinary cortisol level?", "seeds": [ "Increased urinary cortisol level" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06528", "question": "What phenotype is associated with Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3?", "seeds": [ "Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3" ], "gold_answer": "Sparse pubic hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06529", "question": "What is associated with Fractured shoulder?", "seeds": [ "Fractured shoulder" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06530", "question": "What is associated with Cleft helix?", "seeds": [ "Cleft helix" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06531", "question": "What is associated with Spontaneous lens capsule rupture?", "seeds": [ "Spontaneous lens capsule rupture" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06532", "question": "What is associated with C3 nephritic factor positivity?", "seeds": [ "C3 nephritic factor positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06533", "question": "What is associated with Reduced phytanic acid oxidase activity in cultured fibroblasts?", "seeds": [ "Reduced phytanic acid oxidase activity in cultured fibroblasts" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06534", "question": "What is associated with Glycinuria with or without oxalate urolithiasis?", "seeds": [ "Glycinuria with or without oxalate urolithiasis" ], "gold_answer": "Nephrolithiasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06535", "question": "What phenotype is associated with Ramos-Arroyo syndrome?", "seeds": [ "Ramos-Arroyo syndrome" ], "gold_answer": "Keratitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06536", "question": "What is associated with Ambiguous genitalia, female?", "seeds": [ "Ambiguous genitalia, female" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06537", "question": "What is associated with Autosomal recessive spastic paraplegia type 62?", "seeds": [ "Autosomal recessive spastic paraplegia type 62" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06538", "question": "What is associated with SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS?", "seeds": [ "SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06539", "question": "What is associated with Abnormal circulating retinol-binding protein concentration?", "seeds": [ "Abnormal circulating retinol-binding protein concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06540", "question": "What is associated with Bullet-shaped middle phalanx of the 3rd finger?", "seeds": [ "Bullet-shaped middle phalanx of the 3rd finger" ], "gold_answer": "Bullet-shaped middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06541", "question": "What is associated with Expanded terminal portion of crus of helix?", "seeds": [ "Expanded terminal portion of crus of helix" ], "gold_answer": "Abnormal cartilage morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06542", "question": "What is associated with SIMHA syndrome?", "seeds": [ "SIMHA syndrome" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06543", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 53?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 53" ], "gold_answer": "Abnormal bowel sounds", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06544", "question": "What is associated with Aortic elastic fiber thinning?", "seeds": [ "Aortic elastic fiber thinning" ], "gold_answer": "Medial degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06545", "question": "What is associated with Patella alta?", "seeds": [ "Patella alta" ], "gold_answer": "Abnormal patella morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06546", "question": "What is associated with Abnormality of the shoulder girdle musculature?", "seeds": [ "Abnormality of the shoulder girdle musculature" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06547", "question": "What is associated with Abnormal prostate morphology?", "seeds": [ "Abnormal prostate morphology" ], "gold_answer": "Abnormal male internal genitalia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06548", "question": "What is associated with Elevated CSF beta-alanine concentration?", "seeds": [ "Elevated CSF beta-alanine concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06549", "question": "What is associated with Decreased platelet glycoprotein Ib-IX-V?", "seeds": [ "Decreased platelet glycoprotein Ib-IX-V" ], "gold_answer": "Abnormal platelet function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06550", "question": "What is associated with Recurrent urinary tract infections?", "seeds": [ "Recurrent urinary tract infections" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06551", "question": "What is associated with Abnormal lexical patterns?", "seeds": [ "Abnormal lexical patterns" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06552", "question": "What phenotype is associated with Cortical blindness-intellectual disability-polydactyly syndrome?", "seeds": [ "Cortical blindness-intellectual disability-polydactyly syndrome" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06553", "question": "What is associated with Spinocerebellar ataxia type 10?", "seeds": [ "Spinocerebellar ataxia type 10" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06554", "question": "What is associated with Anti-desmoplakin II antibody positivity?", "seeds": [ "Anti-desmoplakin II antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06555", "question": "What is associated with Elevated circulating dodecenoylcarnitine concentration?", "seeds": [ "Elevated circulating dodecenoylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06556", "question": "What is associated with Beta-ureidopropionase deficiency?", "seeds": [ "Beta-ureidopropionase deficiency" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06557", "question": "What phenotype is associated with Premature ovarian failure 5?", "seeds": [ "Premature ovarian failure 5" ], "gold_answer": "Primary amenorrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06558", "question": "What is associated with Malan syndrome?", "seeds": [ "Malan syndrome" ], "gold_answer": "Increased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06559", "question": "What is associated with Telangiectasia, hereditary hemorrhagic, type 2?", "seeds": [ "Telangiectasia, hereditary hemorrhagic, type 2" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06560", "question": "What phenotype is associated with Keppen-Lubinsky syndrome?", "seeds": [ "Keppen-Lubinsky syndrome" ], "gold_answer": "Febrile seizure (within the age range of 3 months to 6 years)", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06561", "question": "What is associated with Avian influenza?", "seeds": [ "Avian influenza" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06562", "question": "What is associated with Glutaric aciduria III?", "seeds": [ "Glutaric aciduria III" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06563", "question": "What is associated with Dysorthography?", "seeds": [ "Dysorthography" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06564", "question": "What is associated with Complement component c1r deficiency?", "seeds": [ "Complement component c1r deficiency" ], "gold_answer": "Abnormality of complement system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06565", "question": "What is associated with Renal chloride wasting?", "seeds": [ "Renal chloride wasting" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06566", "question": "What is associated with Abnormality of facial soft tissue?", "seeds": [ "Abnormality of facial soft tissue" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06567", "question": "What is associated with Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis?", "seeds": [ "Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06568", "question": "What is associated with Bietti crystalline dystrophy?", "seeds": [ "Bietti crystalline dystrophy" ], "gold_answer": "Abnormal light- and dark-adapted electroretinogram", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06569", "question": "What is associated with Left Isomerism?", "seeds": [ "Left Isomerism" ], "gold_answer": "Isomerism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06570", "question": "What is associated with Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities?", "seeds": [ "Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities" ], "gold_answer": "Abnormal location of ears", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06571", "question": "What is associated with Hypoplastic nasal bridge?", "seeds": [ "Hypoplastic nasal bridge" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06572", "question": "What is associated with Refsum disease?", "seeds": [ "Refsum disease" ], "gold_answer": "Abnormality of the urinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06573", "question": "What is associated with Bounding pulse?", "seeds": [ "Bounding pulse" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06574", "question": "What is associated with Cerebrooculofacioskeletal syndrome 1?", "seeds": [ "Cerebrooculofacioskeletal syndrome 1" ], "gold_answer": "Abnormality of globe location", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06575", "question": "What is associated with Broad 5th toe?", "seeds": [ "Broad 5th toe" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06576", "question": "What is associated with Global proximal tubulopathy?", "seeds": [ "Global proximal tubulopathy" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06577", "question": "What is associated with Tongue telangiectasia?", "seeds": [ "Tongue telangiectasia" ], "gold_answer": "Oral cavity telangiectasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06578", "question": "What is associated with Pseudoepiphysis of the 3rd metacarpal?", "seeds": [ "Pseudoepiphysis of the 3rd metacarpal" ], "gold_answer": "Pseudoepiphyses of hand bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06579", "question": "What is associated with Response to drugs acting on neuromuscular transmission?", "seeds": [ "Response to drugs acting on neuromuscular transmission" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06580", "question": "What is associated with Autosomal erythropoietic protoporphyria?", "seeds": [ "Autosomal erythropoietic protoporphyria" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06581", "question": "What is associated with Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome?", "seeds": [ "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06582", "question": "What is associated with Gastrointestinal stroma tumor?", "seeds": [ "Gastrointestinal stroma tumor" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06583", "question": "What is associated with Auditory hypersensitivity?", "seeds": [ "Auditory hypersensitivity" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06584", "question": "What is associated with Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome?", "seeds": [ "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome" ], "gold_answer": "EXOSC2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06585", "question": "What is associated with Severely reduced left ventricular ejection fraction?", "seeds": [ "Severely reduced left ventricular ejection fraction" ], "gold_answer": "Abnormal left ventricular function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06586", "question": "What is associated with Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio?", "seeds": [ "Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio" ], "gold_answer": "Abnormality of circulating cortisol level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06587", "question": "What phenotype is associated with Johanson-Blizzard syndrome?", "seeds": [ "Johanson-Blizzard syndrome" ], "gold_answer": "Agenesis of central incisor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06588", "question": "What phenotype is associated with Growth delay-intellectual disability-hepatopathy syndrome?", "seeds": [ "Growth delay-intellectual disability-hepatopathy syndrome" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06589", "question": "What is associated with Hyperglycerolemia?", "seeds": [ "Hyperglycerolemia" ], "gold_answer": "Abnormal circulating glycerol level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06590", "question": "What is associated with Abnormality of the epiphysis of the distal phalanx of the 2nd toe?", "seeds": [ "Abnormality of the epiphysis of the distal phalanx of the 2nd toe" ], "gold_answer": "Abnormality of the epiphyses of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06591", "question": "What is associated with Femur-fibula-ulna complex?", "seeds": [ "Femur-fibula-ulna complex" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06592", "question": "What is associated with Nail dysplasia?", "seeds": [ "Nail dysplasia" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06593", "question": "What is associated with Pretragal ectopia?", "seeds": [ "Pretragal ectopia" ], "gold_answer": "Abnormal midface morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06594", "question": "What is associated with Migraine?", "seeds": [ "Migraine" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06595", "question": "What is associated with Abnormal urinary uromodulin level?", "seeds": [ "Abnormal urinary uromodulin level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06596", "question": "What is associated with Renal interstitial edema?", "seeds": [ "Renal interstitial edema" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06597", "question": "What is associated with CNS foam cells?", "seeds": [ "CNS foam cells" ], "gold_answer": "Foam cells", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06598", "question": "What is associated with Rectal perforation?", "seeds": [ "Rectal perforation" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06599", "question": "What phenotype is associated with Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant?", "seeds": [ "Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant" ], "gold_answer": "Lactic acidosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06600", "question": "What phenotype is associated with IgG4-related retroperitoneal fibrosis?", "seeds": [ "IgG4-related retroperitoneal fibrosis" ], "gold_answer": "Constipation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06601", "question": "What is associated with Transient decreased circulating IgA?", "seeds": [ "Transient decreased circulating IgA" ], "gold_answer": "Decreased circulating IgA concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06602", "question": "What phenotype is associated with Sagliker syndrome?", "seeds": [ "Sagliker syndrome" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06603", "question": "What is associated with Histidinuria due to A renal tubular defect?", "seeds": [ "Histidinuria due to A renal tubular defect" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06604", "question": "What phenotype is associated with Epidermodysplasia verruciformis 2?", "seeds": [ "Epidermodysplasia verruciformis 2" ], "gold_answer": "Verruca plana", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06605", "question": "What is associated with Abnormality of the distal phalanx of the 5th toe?", "seeds": [ "Abnormality of the distal phalanx of the 5th toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06606", "question": "What is associated with Aplasia/Hypoplasia of the middle phalanx of the 2nd toe?", "seeds": [ "Aplasia/Hypoplasia of the middle phalanx of the 2nd toe" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06607", "question": "What is associated with Portal hypertension, noncirrhotic?", "seeds": [ "Portal hypertension, noncirrhotic" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06608", "question": "What is associated with Mitochondrial respiratory chain defects?", "seeds": [ "Mitochondrial respiratory chain defects" ], "gold_answer": "Abnormality of the mitochondrion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06609", "question": "What phenotype is associated with Atrial septal defect, ostium primum type?", "seeds": [ "Atrial septal defect, ostium primum type" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06610", "question": "What is associated with Fractured proximal epiphysis of first metacarpal bone?", "seeds": [ "Fractured proximal epiphysis of first metacarpal bone" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06611", "question": "What is associated with Reduced fibroblast CD16 level?", "seeds": [ "Reduced fibroblast CD16 level" ], "gold_answer": "Reduced cell surface marker level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06612", "question": "What is associated with Aplasia of the distal phalanx of the thumb?", "seeds": [ "Aplasia of the distal phalanx of the thumb" ], "gold_answer": "Aplasia involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06613", "question": "What phenotype is associated with Immunodeficiency 106, susceptibility to viral infections?", "seeds": [ "Immunodeficiency 106, susceptibility to viral infections" ], "gold_answer": "Post-vaccination yellow fever", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06614", "question": "What phenotype is associated with Glycogen storage disease VII?", "seeds": [ "Glycogen storage disease VII" ], "gold_answer": "Exercise-induced muscle fatigue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06615", "question": "What is associated with Hypoplastic right ventricle?", "seeds": [ "Hypoplastic right ventricle" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06616", "question": "What is associated with Anti-glomerular basement membrane-antibody positivity?", "seeds": [ "Anti-glomerular basement membrane-antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06617", "question": "What is associated with Periorbital fullness?", "seeds": [ "Periorbital fullness" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06618", "question": "What is associated with EEG with 4-5/second background activity?", "seeds": [ "EEG with 4-5/second background activity" ], "gold_answer": "EEG with constitutional variants", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06619", "question": "What is associated with Abnormal auditory canal morphology?", "seeds": [ "Abnormal auditory canal morphology" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06620", "question": "What is associated with Coronary artery aneurysm?", "seeds": [ "Coronary artery aneurysm" ], "gold_answer": "Abnormal coronary artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06621", "question": "What phenotype is associated with Periventricular nodular heterotopia?", "seeds": [ "Periventricular nodular heterotopia" ], "gold_answer": "Aortic aneurysm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06622", "question": "What is associated with Elevated urine 3-hydroxysebacic acid level?", "seeds": [ "Elevated urine 3-hydroxysebacic acid level" ], "gold_answer": "Aciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06623", "question": "What is associated with Irregularly shaped keratohyaline granules?", "seeds": [ "Irregularly shaped keratohyaline granules" ], "gold_answer": "Abnormal epidermal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06624", "question": "What is associated with Axillary epidermoid cyst?", "seeds": [ "Axillary epidermoid cyst" ], "gold_answer": "Epidermoid cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06625", "question": "What is associated with 3-methylglutaconic aciduria, type I?", "seeds": [ "3-methylglutaconic aciduria, type I" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06626", "question": "What is associated with Pseudoepiphysis of the distal phalanx of the 2nd finger?", "seeds": [ "Pseudoepiphysis of the distal phalanx of the 2nd finger" ], "gold_answer": "Abnormality of the distal phalanx of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06627", "question": "What phenotype is associated with Dentin dysplasia, type II?", "seeds": [ "Dentin dysplasia, type II" ], "gold_answer": "Generalized hypoplasia of dental enamel", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06628", "question": "What is associated with Eversion of lateral third of lower eyelids?", "seeds": [ "Eversion of lateral third of lower eyelids" ], "gold_answer": "Ectropion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06629", "question": "What is associated with Thickened tricuspid valve cusp?", "seeds": [ "Thickened tricuspid valve cusp" ], "gold_answer": "Abnormal heart valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06630", "question": "What is associated with Absent frontal sinuses?", "seeds": [ "Absent frontal sinuses" ], "gold_answer": "Aplasia/Hypoplasia of the frontal sinuses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06631", "question": "What is associated with Peripheral neuroepithelioma?", "seeds": [ "Peripheral neuroepithelioma" ], "gold_answer": "Neoplasm of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06632", "question": "What is associated with Retinal arteritis?", "seeds": [ "Retinal arteritis" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06633", "question": "What is associated with Right ventricular failure?", "seeds": [ "Right ventricular failure" ], "gold_answer": "Abnormal right ventricular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06634", "question": "What is associated with Elevated mitochondrial citrate synthase activity?", "seeds": [ "Elevated mitochondrial citrate synthase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06635", "question": "What is associated with IgA deposition in the glomerulus?", "seeds": [ "IgA deposition in the glomerulus" ], "gold_answer": "Glomerular deposits", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06636", "question": "What is associated with Decreased CSF albumin concentration?", "seeds": [ "Decreased CSF albumin concentration" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06637", "question": "What is associated with Adrenocorticotropin receptor defect?", "seeds": [ "Adrenocorticotropin receptor defect" ], "gold_answer": "Central adrenal insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06638", "question": "What is associated with Oromotor apraxia?", "seeds": [ "Oromotor apraxia" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06639", "question": "What is associated with Broad radius?", "seeds": [ "Broad radius" ], "gold_answer": "Abnormal morphology of the radius", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06640", "question": "What is associated with Abnormal central microtubular pair morphology of respiratory motile cilia?", "seeds": [ "Abnormal central microtubular pair morphology of respiratory motile cilia" ], "gold_answer": "Abnormal respiratory motile cilium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06641", "question": "What is associated with Focal aware emotional seizure?", "seeds": [ "Focal aware emotional seizure" ], "gold_answer": "Focal aware non-motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06642", "question": "What is associated with Syncope?", "seeds": [ "Syncope" ], "gold_answer": "Reduced consciousness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06643", "question": "What is associated with Difficulty understanding humor?", "seeds": [ "Difficulty understanding humor" ], "gold_answer": "Reduced social insight", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06644", "question": "What is associated with Spastic paraplegia-precocious puberty syndrome?", "seeds": [ "Spastic paraplegia-precocious puberty syndrome" ], "gold_answer": "Abnormality of the Leydig cells", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06645", "question": "What is associated with Cone-Rod dystrophy 8?", "seeds": [ "Cone-Rod dystrophy 8" ], "gold_answer": "Retinal dystrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06646", "question": "What is associated with Absent patellar reflexes?", "seeds": [ "Absent patellar reflexes" ], "gold_answer": "Areflexia of lower limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06647", "question": "What is associated with Abnormal ureter physiology?", "seeds": [ "Abnormal ureter physiology" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06648", "question": "What is associated with Dwarfism, proportionate, with hip dislocation?", "seeds": [ "Dwarfism, proportionate, with hip dislocation" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06649", "question": "What is associated with Narrow nasal tip?", "seeds": [ "Narrow nasal tip" ], "gold_answer": "Abnormal nasal tip morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06650", "question": "What is associated with Hypertriglyceridemia, familial?", "seeds": [ "Hypertriglyceridemia, familial" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06651", "question": "What is associated with Abnormal drug response?", "seeds": [ "Abnormal drug response" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06652", "question": "What is associated with Osteolytic defects of the middle phalanx of the 5th toe?", "seeds": [ "Osteolytic defects of the middle phalanx of the 5th toe" ], "gold_answer": "Osteolysis involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06653", "question": "What is associated with Short first metatarsal?", "seeds": [ "Short first metatarsal" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06654", "question": "What is associated with Reduced circulating interleukin 7 concentration?", "seeds": [ "Reduced circulating interleukin 7 concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06655", "question": "What is associated with Fractured scapula?", "seeds": [ "Fractured scapula" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06656", "question": "What is associated with Anti-rubella antibody positivity?", "seeds": [ "Anti-rubella antibody positivity" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06657", "question": "What is associated with Yellow subcutaneous tissue covered by thin, scaly skin?", "seeds": [ "Yellow subcutaneous tissue covered by thin, scaly skin" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06658", "question": "What is associated with Preimplantation embryonic lethality 2?", "seeds": [ "Preimplantation embryonic lethality 2" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06659", "question": "What is associated with Low femoral bone density?", "seeds": [ "Low femoral bone density" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06660", "question": "What is associated with Abnormality of masseter muscle?", "seeds": [ "Abnormality of masseter muscle" ], "gold_answer": "Abnormality of masticatory muscle", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06661", "question": "What is associated with Absent nares?", "seeds": [ "Absent nares" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06662", "question": "What is associated with Anti-cytomegalovirus antibody positivity?", "seeds": [ "Anti-cytomegalovirus antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06663", "question": "What phenotype is associated with Atrial fibrillation, familial, 15?", "seeds": [ "Atrial fibrillation, familial, 15" ], "gold_answer": "Atrial flutter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06664", "question": "What is associated with Cerebellar calcifications?", "seeds": [ "Cerebellar calcifications" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06665", "question": "What is associated with Hypoplasia of the gallbladder?", "seeds": [ "Hypoplasia of the gallbladder" ], "gold_answer": "Aplasia/Hypoplasia of the gallbladder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06666", "question": "What is associated with Short-Rib thoracic dysplasia 6 with or without polydactyly?", "seeds": [ "Short-Rib thoracic dysplasia 6 with or without polydactyly" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06667", "question": "What is associated with Orbital margin, hypoplasia of?", "seeds": [ "Orbital margin, hypoplasia of" ], "gold_answer": "Abnormality of the extraocular muscles", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06668", "question": "What is associated with Bronchomalacia?", "seeds": [ "Bronchomalacia" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06669", "question": "What is associated with Agenesis of first permanent molar tooth?", "seeds": [ "Agenesis of first permanent molar tooth" ], "gold_answer": "Abnormality of molar", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06670", "question": "What is associated with Cerebral cortical hemiatrophy?", "seeds": [ "Cerebral cortical hemiatrophy" ], "gold_answer": "Cerebral atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06671", "question": "What is associated with T2 hypointense basal ganglia?", "seeds": [ "T2 hypointense basal ganglia" ], "gold_answer": "Abnormal basal ganglia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06672", "question": "What is associated with Congenital plasminogen activator inhibitor type 1 deficiency?", "seeds": [ "Congenital plasminogen activator inhibitor type 1 deficiency" ], "gold_answer": "Abnormality of the menstrual cycle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06673", "question": "What is associated with Fatty replacement of skeletal muscle?", "seeds": [ "Fatty replacement of skeletal muscle" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06674", "question": "What is associated with Goldmann-Favre syndrome?", "seeds": [ "Goldmann-Favre syndrome" ], "gold_answer": "NR2E3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06675", "question": "What is associated with Collagenoma, familial cutaneous?", "seeds": [ "Collagenoma, familial cutaneous" ], "gold_answer": "Atrial arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06676", "question": "What is associated with Malaligned carpal bone?", "seeds": [ "Malaligned carpal bone" ], "gold_answer": "Abnormal carpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06677", "question": "What is associated with Short 5th metacarpal?", "seeds": [ "Short 5th metacarpal" ], "gold_answer": "Aplasia/Hypoplasia of the 5th metacarpal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06678", "question": "What phenotype is associated with Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation?", "seeds": [ "Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation" ], "gold_answer": "Flat occiput", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06679", "question": "What is associated with Elevated urinary saccharopine level?", "seeds": [ "Elevated urinary saccharopine level" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06680", "question": "What is associated with Axillary epidermoid cyst?", "seeds": [ "Axillary epidermoid cyst" ], "gold_answer": "Epidermoid cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06681", "question": "What is associated with Oocyte maturation defect 2?", "seeds": [ "Oocyte maturation defect 2" ], "gold_answer": "Decreased fertility in females", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06682", "question": "What is associated with Absent internal genitalia?", "seeds": [ "Absent internal genitalia" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06683", "question": "What is associated with Non-infectious meningitis?", "seeds": [ "Non-infectious meningitis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06684", "question": "What is associated with Focal aware sensory seizure with auditory features?", "seeds": [ "Focal aware sensory seizure with auditory features" ], "gold_answer": "Focal sensory seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06685", "question": "What is associated with Arteries, anomalies of?", "seeds": [ "Arteries, anomalies of" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06686", "question": "What is associated with Isolated cerebellar agenesis?", "seeds": [ "Isolated cerebellar agenesis" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06687", "question": "What is associated with Autosomal dominant spastic paraplegia type 29?", "seeds": [ "Autosomal dominant spastic paraplegia type 29" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06688", "question": "What is associated with Macule?", "seeds": [ "Macule" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06689", "question": "What is associated with Respiratory failure?", "seeds": [ "Respiratory failure" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06690", "question": "What is associated with Latent hypermetropia?", "seeds": [ "Latent hypermetropia" ], "gold_answer": "Hypermetropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06691", "question": "What is associated with Autosomal recessive distal renal tubular acidosis?", "seeds": [ "Autosomal recessive distal renal tubular acidosis" ], "gold_answer": "ATP6V1B1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06692", "question": "What is associated with Congenital disorder of glycosylation, type Ig?", "seeds": [ "Congenital disorder of glycosylation, type Ig" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06693", "question": "What phenotype is associated with Retinitis pigmentosa 44?", "seeds": [ "Retinitis pigmentosa 44" ], "gold_answer": "Attenuation of retinal blood vessels", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06694", "question": "What is associated with Acanthosis nigricans?", "seeds": [ "Acanthosis nigricans" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06695", "question": "What is associated with Enlarged epiphysis of the proximal phalanx of the 5th toe?", "seeds": [ "Enlarged epiphysis of the proximal phalanx of the 5th toe" ], "gold_answer": "Enlarged epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06696", "question": "What is associated with Weight loss?", "seeds": [ "Weight loss" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06697", "question": "What is associated with Nasolacrimal sac epithelial papillary carcinoma?", "seeds": [ "Nasolacrimal sac epithelial papillary carcinoma" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06698", "question": "What is associated with Nodular neuronal heterotopia?", "seeds": [ "Nodular neuronal heterotopia" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06699", "question": "What is associated with Palmoplantar keratoderma-deafness syndrome?", "seeds": [ "Palmoplantar keratoderma-deafness syndrome" ], "gold_answer": "GJB2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06700", "question": "What is associated with Renal duplication?", "seeds": [ "Renal duplication" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06701", "question": "What is associated with Decreased sensitivity to hypoxemia?", "seeds": [ "Decreased sensitivity to hypoxemia" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06702", "question": "What is associated with Abnormal renal tubular epithelial morphology?", "seeds": [ "Abnormal renal tubular epithelial morphology" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06703", "question": "What phenotype is associated with Familial atrial myxoma?", "seeds": [ "Familial atrial myxoma" ], "gold_answer": "Pulmonic valve myxoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06704", "question": "What is associated with Symptomatic seizures?", "seeds": [ "Symptomatic seizures" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06705", "question": "What is associated with Vaginal birth after Caesarean?", "seeds": [ "Vaginal birth after Caesarean" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06706", "question": "What phenotype is associated with Spinocerebellar ataxia 49?", "seeds": [ "Spinocerebellar ataxia 49" ], "gold_answer": "Cerebellar atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06707", "question": "What is associated with Insect allergy?", "seeds": [ "Insect allergy" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06708", "question": "What phenotype is associated with Deafness, autosomal dominant nonsyndromic sensorineural 10?", "seeds": [ "Deafness, autosomal dominant nonsyndromic sensorineural 10" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06709", "question": "What is associated with Arthrogryposis multiplex congenita 6?", "seeds": [ "Arthrogryposis multiplex congenita 6" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06710", "question": "What is associated with Sarcoplasmic bodies?", "seeds": [ "Sarcoplasmic bodies" ], "gold_answer": "Pathological inclusion body", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06711", "question": "What is associated with Absent brainstem auditory responses?", "seeds": [ "Absent brainstem auditory responses" ], "gold_answer": "Abnormal brain-evoked potentials", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06712", "question": "What is associated with Esophageal hemangioma?", "seeds": [ "Esophageal hemangioma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06713", "question": "What is associated with Epidermolysis bullosa, lethal acantholytic?", "seeds": [ "Epidermolysis bullosa, lethal acantholytic" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06714", "question": "What is associated with Hepatic foam cells?", "seeds": [ "Hepatic foam cells" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06715", "question": "What is associated with Triangular epiphysis of the distal phalanx of the 2nd finger?", "seeds": [ "Triangular epiphysis of the distal phalanx of the 2nd finger" ], "gold_answer": "Triangular epiphyses of the distal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06716", "question": "What phenotype is associated with Temple-Baraitser syndrome?", "seeds": [ "Temple-Baraitser syndrome" ], "gold_answer": "Proximal placement of thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06717", "question": "What is associated with Mobile lump?", "seeds": [ "Mobile lump" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06718", "question": "What is associated with Abnormal lacrimal duct morphology?", "seeds": [ "Abnormal lacrimal duct morphology" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06719", "question": "What is associated with STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome?", "seeds": [ "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06720", "question": "What is associated with 1-3 toe syndactyly?", "seeds": [ "1-3 toe syndactyly" ], "gold_answer": "Toe syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06721", "question": "What phenotype is associated with Cerebral cavernous malformations 2?", "seeds": [ "Cerebral cavernous malformations 2" ], "gold_answer": "Cerebral hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06722", "question": "What is associated with Axenfeld anomaly?", "seeds": [ "Axenfeld anomaly" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06723", "question": "What is associated with Cutis laxa, autosomal recessive, type IIIB?", "seeds": [ "Cutis laxa, autosomal recessive, type IIIB" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06724", "question": "What is associated with Scimitar anomaly?", "seeds": [ "Scimitar anomaly" ], "gold_answer": "Partial anomalous pulmonary venous return", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06725", "question": "What phenotype is associated with Lymphoblastic transformation, intrinsic defect in?", "seeds": [ "Lymphoblastic transformation, intrinsic defect in" ], "gold_answer": "Abnormality of dental enamel", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06726", "question": "What is associated with Central nail canal?", "seeds": [ "Central nail canal" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06727", "question": "What is associated with Abnormal penis morphology?", "seeds": [ "Abnormal penis morphology" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06728", "question": "What is associated with Richieri Costa-da Silva syndrome?", "seeds": [ "Richieri Costa-da Silva syndrome" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06729", "question": "What phenotype is associated with Ataxia, deafness, and cardiomyopathy?", "seeds": [ "Ataxia, deafness, and cardiomyopathy" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06730", "question": "What is associated with Impaired renal tubular reabsorption of glucose?", "seeds": [ "Impaired renal tubular reabsorption of glucose" ], "gold_answer": "Abnormal renal tubular resorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06731", "question": "What phenotype is associated with Hereditary neurocutaneous malformation?", "seeds": [ "Hereditary neurocutaneous malformation" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06732", "question": "What is associated with Peroneal nerve, accessory deep?", "seeds": [ "Peroneal nerve, accessory deep" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06733", "question": "What is associated with Ivory epiphysis of the distal phalanx of the hallux?", "seeds": [ "Ivory epiphysis of the distal phalanx of the hallux" ], "gold_answer": "Ivory epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06734", "question": "What is associated with 11 pairs of ribs?", "seeds": [ "11 pairs of ribs" ], "gold_answer": "Aplasia/Hypoplasia of the ribs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06735", "question": "What is associated with Fanconi anemia, complementation group I?", "seeds": [ "Fanconi anemia, complementation group I" ], "gold_answer": "Short long bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06736", "question": "What is associated with Aplasia of the proximal phalanx of the 3rd finger?", "seeds": [ "Aplasia of the proximal phalanx of the 3rd finger" ], "gold_answer": "Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06737", "question": "What is associated with Cystinosis, late-onset juvenile or adolescent nephropathic?", "seeds": [ "Cystinosis, late-onset juvenile or adolescent nephropathic" ], "gold_answer": "Corneal opacity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06738", "question": "What is associated with Reduced circulating interleukin 7 concentration?", "seeds": [ "Reduced circulating interleukin 7 concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06739", "question": "What phenotype is associated with Tuberous sclerosis-1?", "seeds": [ "Tuberous sclerosis-1" ], "gold_answer": "Angiofibromas", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06740", "question": "What is associated with Retinal flecks?", "seeds": [ "Retinal flecks" ], "gold_answer": "Yellow/white retinal lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06741", "question": "What is associated with Decreased finger mobility?", "seeds": [ "Decreased finger mobility" ], "gold_answer": "Abnormality of hand joint mobility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06742", "question": "What is associated with Myotonia fluctuans?", "seeds": [ "Myotonia fluctuans" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06743", "question": "What is associated with Aplasia of the left hemidiaphragm?", "seeds": [ "Aplasia of the left hemidiaphragm" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06744", "question": "What is associated with Focal aware autonomic seizure with pupillary dilation/constriction?", "seeds": [ "Focal aware autonomic seizure with pupillary dilation/constriction" ], "gold_answer": "Focal autonomic seizure with pupillary dilation/constriction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06745", "question": "What is associated with Abnormal nasolabial region morphology?", "seeds": [ "Abnormal nasolabial region morphology" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06746", "question": "What is associated with Intrahepatic biliary dysgenesis?", "seeds": [ "Intrahepatic biliary dysgenesis" ], "gold_answer": "Abnormal biliary tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06747", "question": "What is associated with Cold-Induced sweating syndrome 2?", "seeds": [ "Cold-Induced sweating syndrome 2" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06748", "question": "What is associated with Glaucoma 1, open angle, H?", "seeds": [ "Glaucoma 1, open angle, H" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06749", "question": "What is associated with Infantile osteopetrosis with neuroaxonal dysplasia?", "seeds": [ "Infantile osteopetrosis with neuroaxonal dysplasia" ], "gold_answer": "Atrophy/Degeneration affecting the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06750", "question": "What is associated with Congenital patella dislocation?", "seeds": [ "Congenital patella dislocation" ], "gold_answer": "Lower extremity joint dislocation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06751", "question": "What is associated with Abnormal branching pattern of the aortic arch?", "seeds": [ "Abnormal branching pattern of the aortic arch" ], "gold_answer": "Abnormal aortic arch morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06752", "question": "What is associated with Airway hyperresponsiveness?", "seeds": [ "Airway hyperresponsiveness" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06753", "question": "What is associated with Seborrheic keratosis?", "seeds": [ "Seborrheic keratosis" ], "gold_answer": "Neoplasm of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06754", "question": "What is associated with Oculocutaneous albinism type 5?", "seeds": [ "Oculocutaneous albinism type 5" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06755", "question": "What is associated with Autosomal recessive spastic paraplegia type 64?", "seeds": [ "Autosomal recessive spastic paraplegia type 64" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06756", "question": "What is associated with Medial rectus muscle restriction?", "seeds": [ "Medial rectus muscle restriction" ], "gold_answer": "Abnormal horizontal rectus muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06757", "question": "What is associated with Abnormal sialylation of O-linked protein glycosylation?", "seeds": [ "Abnormal sialylation of O-linked protein glycosylation" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06758", "question": "What is associated with 12q14 microdeletion syndrome?", "seeds": [ "12q14 microdeletion syndrome" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06759", "question": "What is associated with Prominent eyelashes?", "seeds": [ "Prominent eyelashes" ], "gold_answer": "Abnormal eyelash morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06760", "question": "What is associated with Bilateral renal agenesis?", "seeds": [ "Bilateral renal agenesis" ], "gold_answer": "Facial shape deformation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06761", "question": "What is associated with Dysspondyloenchondromatosis?", "seeds": [ "Dysspondyloenchondromatosis" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06762", "question": "What is associated with Cleft at the superior portion of the pinna?", "seeds": [ "Cleft at the superior portion of the pinna" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06763", "question": "What is associated with Aplasia of the musculature of the pelvis?", "seeds": [ "Aplasia of the musculature of the pelvis" ], "gold_answer": "Aplasia/Hypoplasia of the musculature of the pelvis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06764", "question": "What is associated with Amyoplasia?", "seeds": [ "Amyoplasia" ], "gold_answer": "Aplasia of the musculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06765", "question": "What is associated with Spinocerebellar ataxia 45?", "seeds": [ "Spinocerebellar ataxia 45" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06766", "question": "What phenotype is associated with Temtamy syndrome?", "seeds": [ "Temtamy syndrome" ], "gold_answer": "Thick corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06767", "question": "What is associated with Fish odor?", "seeds": [ "Fish odor" ], "gold_answer": "Body odor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06768", "question": "What is associated with Biliary cirrhosis?", "seeds": [ "Biliary cirrhosis" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06769", "question": "What phenotype is associated with Retinal degeneration, late-onset, autosomal dominant?", "seeds": [ "Retinal degeneration, late-onset, autosomal dominant" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06770", "question": "What is associated with Third degree atrioventricular block?", "seeds": [ "Third degree atrioventricular block" ], "gold_answer": "Abnormal atrioventricular conduction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06771", "question": "What is associated with Floating gallbladder?", "seeds": [ "Floating gallbladder" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06772", "question": "What is associated with Difficulty standing?", "seeds": [ "Difficulty standing" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06773", "question": "What phenotype is associated with Von willebrand disease, type 2?", "seeds": [ "Von willebrand disease, type 2" ], "gold_answer": "Menorrhagia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06774", "question": "What is associated with Positive calf squeeze test?", "seeds": [ "Positive calf squeeze test" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06775", "question": "What is associated with Jejunal adenocarcinoma?", "seeds": [ "Jejunal adenocarcinoma" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06776", "question": "What is associated with 4-5 toe syndactyly?", "seeds": [ "4-5 toe syndactyly" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06777", "question": "What is associated with Radioulnar synostosis with amegakaryocytic thrombocytopenia?", "seeds": [ "Radioulnar synostosis with amegakaryocytic thrombocytopenia" ], "gold_answer": "Pancytopenia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06778", "question": "What is associated with Pontocerebellar hypoplasia, type 2E?", "seeds": [ "Pontocerebellar hypoplasia, type 2E" ], "gold_answer": "Abnormal emotional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06779", "question": "What is associated with Fingernail dysplasia?", "seeds": [ "Fingernail dysplasia" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06780", "question": "What is associated with Broad uvula?", "seeds": [ "Broad uvula" ], "gold_answer": "Abnormal uvula morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06781", "question": "What is associated with Decrease in high molecular weight von Willebrand factor Multimers?", "seeds": [ "Decrease in high molecular weight von Willebrand factor Multimers" ], "gold_answer": "Abnormality of von Willebrand factor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06782", "question": "What is associated with Ring chromosome 15 syndrome?", "seeds": [ "Ring chromosome 15 syndrome" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06783", "question": "What is associated with Abnormal urine phosphate concentration?", "seeds": [ "Abnormal urine phosphate concentration" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06784", "question": "What is associated with Transient erythroblastopenia of childhood?", "seeds": [ "Transient erythroblastopenia of childhood" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06785", "question": "What phenotype is associated with Lissencephaly, X-linked, 1?", "seeds": [ "Lissencephaly, X-linked, 1" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06786", "question": "What is associated with Basal ganglia calcification, idiopathic, 6?", "seeds": [ "Basal ganglia calcification, idiopathic, 6" ], "gold_answer": "Abnormal basal ganglia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06787", "question": "What is associated with Deletion 5q35 syndrome?", "seeds": [ "Deletion 5q35 syndrome" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06788", "question": "What is associated with Abnormal location of the eyebrow?", "seeds": [ "Abnormal location of the eyebrow" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06789", "question": "What is associated with Wide cavum septum pellucidum?", "seeds": [ "Wide cavum septum pellucidum" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06790", "question": "What is associated with Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits?", "seeds": [ "Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06791", "question": "What is associated with Decreased esterified to free carnitine ratio?", "seeds": [ "Decreased esterified to free carnitine ratio" ], "gold_answer": "Abnormal esterified to free carnitine ratio", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06792", "question": "What is associated with Interlobular vein intima/media multilamellation?", "seeds": [ "Interlobular vein intima/media multilamellation" ], "gold_answer": "Abnormal interlobular vein intima/media morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06793", "question": "What is associated with Miliary?", "seeds": [ "Miliary" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06794", "question": "What is associated with Polymicrogyria, bilateral frontoparietal?", "seeds": [ "Polymicrogyria, bilateral frontoparietal" ], "gold_answer": "Clonus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06795", "question": "What phenotype is associated with SLC35A2-CDG?", "seeds": [ "SLC35A2-CDG" ], "gold_answer": "Paroxysmal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06796", "question": "What is associated with Superficial dermal perivascular inflammatory infiltrate?", "seeds": [ "Superficial dermal perivascular inflammatory infiltrate" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06797", "question": "What is associated with Oligodontia of primary teeth?", "seeds": [ "Oligodontia of primary teeth" ], "gold_answer": "Abnormal oral physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06798", "question": "What is associated with Pendred syndrome?", "seeds": [ "Pendred syndrome" ], "gold_answer": "Neoplasm of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06799", "question": "What is associated with Delayed fine motor development?", "seeds": [ "Delayed fine motor development" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06800", "question": "What phenotype is associated with Autosomal recessive ataxia, Beauce type?", "seeds": [ "Autosomal recessive ataxia, Beauce type" ], "gold_answer": "Impaired smooth pursuit", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06801", "question": "What is associated with Intratubular myoglobin cast?", "seeds": [ "Intratubular myoglobin cast" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06802", "question": "What is associated with Craniofacial osteosclerosis?", "seeds": [ "Craniofacial osteosclerosis" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06803", "question": "What is associated with Multiple epiphyseal dysplasia type 1?", "seeds": [ "Multiple epiphyseal dysplasia type 1" ], "gold_answer": "Abnormality of the calf", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06804", "question": "What is associated with Decreased coracohumeral distance?", "seeds": [ "Decreased coracohumeral distance" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06805", "question": "What phenotype is associated with Holoprosencephaly-craniosynostosis syndrome?", "seeds": [ "Holoprosencephaly-craniosynostosis syndrome" ], "gold_answer": "Hydrocephalus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06806", "question": "What is associated with Supracardiac total anomalous pulmonary venous connection?", "seeds": [ "Supracardiac total anomalous pulmonary venous connection" ], "gold_answer": "Total anomalous pulmonary venous return", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06807", "question": "What is associated with Midnasal atresia?", "seeds": [ "Midnasal atresia" ], "gold_answer": "Midnasal stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06808", "question": "What is associated with Distal widening of metacarpals?", "seeds": [ "Distal widening of metacarpals" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06809", "question": "What is associated with Toe phalanx fracture?", "seeds": [ "Toe phalanx fracture" ], "gold_answer": "Fractured hindlimb bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06810", "question": "What is associated with Decreased number of vertebrae?", "seeds": [ "Decreased number of vertebrae" ], "gold_answer": "Abnormal number of vertebrae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06811", "question": "What is associated with Corneal stromal edema?", "seeds": [ "Corneal stromal edema" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06812", "question": "What is associated with Foot pain?", "seeds": [ "Foot pain" ], "gold_answer": "Limb pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06813", "question": "What is associated with Abnormal lymph node cell composition?", "seeds": [ "Abnormal lymph node cell composition" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06814", "question": "What is associated with Paget disease of bone 2, early-onset?", "seeds": [ "Paget disease of bone 2, early-onset" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06815", "question": "What is associated with Dysplastic sacrum?", "seeds": [ "Dysplastic sacrum" ], "gold_answer": "Abnormal sacrum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06816", "question": "What phenotype is associated with 3-methylglutaconic aciduria, type V?", "seeds": [ "3-methylglutaconic aciduria, type V" ], "gold_answer": "Mild intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06817", "question": "What is associated with Hyperphalangy of the 3rd finger?", "seeds": [ "Hyperphalangy of the 3rd finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06818", "question": "What phenotype is associated with Holoprosencephaly 7?", "seeds": [ "Holoprosencephaly 7" ], "gold_answer": "Flat face", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06819", "question": "What is associated with Nijmegen breakage syndrome-like disorder?", "seeds": [ "Nijmegen breakage syndrome-like disorder" ], "gold_answer": "Abnormal B cell physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06820", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 23?", "seeds": [ "Intellectual developmental disorder, X-linked 23" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06821", "question": "What is associated with Macular scar?", "seeds": [ "Macular scar" ], "gold_answer": "Scarring", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06822", "question": "What is associated with Abnormal pectoral muscle morphology?", "seeds": [ "Abnormal pectoral muscle morphology" ], "gold_answer": "Abnormality of the musculature of the thorax", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06823", "question": "What phenotype is associated with Nephronophthisis 13?", "seeds": [ "Nephronophthisis 13" ], "gold_answer": "Renal hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06824", "question": "What is associated with X-linked dominant chondrodysplasia punctata?", "seeds": [ "X-linked dominant chondrodysplasia punctata" ], "gold_answer": "Cephalocele", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06825", "question": "What is associated with Limb dystonia?", "seeds": [ "Limb dystonia" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06826", "question": "What phenotype is associated with Macular dystrophy, butterfly-shaped pigmentary, 2?", "seeds": [ "Macular dystrophy, butterfly-shaped pigmentary, 2" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06827", "question": "What is associated with Bilateral superior vena cava with bridging vein?", "seeds": [ "Bilateral superior vena cava with bridging vein" ], "gold_answer": "Abnormal superior vena cava morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06828", "question": "What is associated with Recurrent patellar dislocation?", "seeds": [ "Recurrent patellar dislocation" ], "gold_answer": "Abnormal knee morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06829", "question": "What is associated with Facial myokymia?", "seeds": [ "Facial myokymia" ], "gold_answer": "Abnormality of facial musculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06830", "question": "What is associated with Bouchard node?", "seeds": [ "Bouchard node" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06831", "question": "What is associated with Femoral osteopoikilosis?", "seeds": [ "Femoral osteopoikilosis" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06832", "question": "What is associated with Pendular nystagmus?", "seeds": [ "Pendular nystagmus" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06833", "question": "What is associated with Foveal hyporeflective spaces on macular OCT?", "seeds": [ "Foveal hyporeflective spaces on macular OCT" ], "gold_answer": "Abnormal foveal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06834", "question": "What is associated with Abnormal Humphrey SITA 10-2 perimetry test?", "seeds": [ "Abnormal Humphrey SITA 10-2 perimetry test" ], "gold_answer": "Abnormal static perimetry test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06835", "question": "What is associated with Chronic lactic acidosis?", "seeds": [ "Chronic lactic acidosis" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06836", "question": "What is associated with Corpus callosum agenesis-macrocephaly-hypertelorism syndrome?", "seeds": [ "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06837", "question": "What is associated with Abnormal renal calyx morphology?", "seeds": [ "Abnormal renal calyx morphology" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06838", "question": "What phenotype is associated with Duodenal ulcer, hyperpepsinogenemic I?", "seeds": [ "Duodenal ulcer, hyperpepsinogenemic I" ], "gold_answer": "Duodenal ulcer", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06839", "question": "What is associated with Congenital disorder of glycosylation, type IIB?", "seeds": [ "Congenital disorder of glycosylation, type IIB" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06840", "question": "What is associated with Trisomy 4p syndrome?", "seeds": [ "Trisomy 4p syndrome" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06841", "question": "What is associated with Fragmentation of thumb epiphysis?", "seeds": [ "Fragmentation of thumb epiphysis" ], "gold_answer": "Fragmented upper limb epiphysis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06842", "question": "What phenotype is associated with Dystonia 15, myoclonic?", "seeds": [ "Dystonia 15, myoclonic" ], "gold_answer": "Dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06843", "question": "What is associated with Aminopterin syndrome sine aminopterin?", "seeds": [ "Aminopterin syndrome sine aminopterin" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06844", "question": "What is associated with Glomerular subendothelial widening?", "seeds": [ "Glomerular subendothelial widening" ], "gold_answer": "Abnormal glomerular basement membrane morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06845", "question": "What is associated with Abnormal blood monovalent inorganic cation concentration?", "seeds": [ "Abnormal blood monovalent inorganic cation concentration" ], "gold_answer": "Abnormal blood cation concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06846", "question": "What is associated with Hypoplasia of the dental root?", "seeds": [ "Hypoplasia of the dental root" ], "gold_answer": "Abnormal dental morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06847", "question": "What is associated with Duplication of middle phalanx of toe?", "seeds": [ "Duplication of middle phalanx of toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06848", "question": "What phenotype is associated with X-linked neurodegenerative syndrome, Hamel type?", "seeds": [ "X-linked neurodegenerative syndrome, Hamel type" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06849", "question": "What is associated with Post-vaccination polio?", "seeds": [ "Post-vaccination polio" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06850", "question": "What is associated with Abnormal memory T cell proportion?", "seeds": [ "Abnormal memory T cell proportion" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06851", "question": "What is associated with Peripheral cone dystrophy?", "seeds": [ "Peripheral cone dystrophy" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06852", "question": "What is associated with Joubert syndrome 27?", "seeds": [ "Joubert syndrome 27" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06853", "question": "What is associated with Stenosis of the Eustachian tube?", "seeds": [ "Stenosis of the Eustachian tube" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06854", "question": "What is associated with Anti-histone antibody positivity?", "seeds": [ "Anti-histone antibody positivity" ], "gold_answer": "Antinuclear antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06855", "question": "What is associated with Triangular epiphysis of the middle phalanx of the 3rd finger?", "seeds": [ "Triangular epiphysis of the middle phalanx of the 3rd finger" ], "gold_answer": "Triangular epiphyses of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06856", "question": "What phenotype is associated with Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic?", "seeds": [ "Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic" ], "gold_answer": "Persistence of primary teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06857", "question": "What is associated with Dependency on parenteral nutrition?", "seeds": [ "Dependency on parenteral nutrition" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06858", "question": "What is associated with Increased level of galactitol in plasma?", "seeds": [ "Increased level of galactitol in plasma" ], "gold_answer": "Abnormal circulating carbohydrate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06859", "question": "What phenotype is associated with Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia?", "seeds": [ "Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" ], "gold_answer": "Bradycardia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06860", "question": "What is associated with Posteriorly placed tongue?", "seeds": [ "Posteriorly placed tongue" ], "gold_answer": "Abnormality of the mouth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06861", "question": "What is associated with Chiari type III malformation?", "seeds": [ "Chiari type III malformation" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06862", "question": "What phenotype is associated with Prader-Willi syndrome?", "seeds": [ "Prader-Willi syndrome" ], "gold_answer": "Acromicria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06863", "question": "What is associated with Epidermolysis bullosa simplex with muscular dystrophy?", "seeds": [ "Epidermolysis bullosa simplex with muscular dystrophy" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06864", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 58?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 58" ], "gold_answer": "Obstructive sleep apnea", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06865", "question": "What is associated with Positive bursa fluid gram stain?", "seeds": [ "Positive bursa fluid gram stain" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06866", "question": "What is associated with Sinus node disease and myopia?", "seeds": [ "Sinus node disease and myopia" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06867", "question": "What is associated with Spondylometaphyseal dysplasia, 'corner fracture' type?", "seeds": [ "Spondylometaphyseal dysplasia, 'corner fracture' type" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06868", "question": "What is associated with Elevated circulating CK-MB concentration?", "seeds": [ "Elevated circulating CK-MB concentration" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06869", "question": "What is associated with Elevated CSF neopterin level?", "seeds": [ "Elevated CSF neopterin level" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06870", "question": "What is associated with Ovarian dysgenesis 1?", "seeds": [ "Ovarian dysgenesis 1" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06871", "question": "What is associated with Elevated urinary vanillylmandelic acid?", "seeds": [ "Elevated urinary vanillylmandelic acid" ], "gold_answer": "Aciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06872", "question": "What is associated with Biceps areflexia?", "seeds": [ "Biceps areflexia" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06873", "question": "What is associated with Bronchial atresia?", "seeds": [ "Bronchial atresia" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06874", "question": "What phenotype is associated with Spinocerebellar ataxia, X-linked 2?", "seeds": [ "Spinocerebellar ataxia, X-linked 2" ], "gold_answer": "Abnormality of extrapyramidal motor function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06875", "question": "What is associated with Left anterior fascicular block?", "seeds": [ "Left anterior fascicular block" ], "gold_answer": "Left bundle branch block", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06876", "question": "What is associated with Muscle glycogenosis, X-linked?", "seeds": [ "Muscle glycogenosis, X-linked" ], "gold_answer": "Proximal muscle weakness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06877", "question": "What is associated with Craniosynostosis 2?", "seeds": [ "Craniosynostosis 2" ], "gold_answer": "Abnormal frontal bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06878", "question": "What phenotype is associated with Congenital disorder of glycosylation type 1EE with or without immunodeficiency?", "seeds": [ "Congenital disorder of glycosylation type 1EE with or without immunodeficiency" ], "gold_answer": "Decreased total lymphocyte count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06879", "question": "What is associated with History of recent viral illness?", "seeds": [ "History of recent viral illness" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06880", "question": "What is associated with Hyaline membranes?", "seeds": [ "Hyaline membranes" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06881", "question": "What is associated with Stickler syndrome type 1?", "seeds": [ "Stickler syndrome type 1" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06882", "question": "What is associated with Abnormal glomerular capillary morphology?", "seeds": [ "Abnormal glomerular capillary morphology" ], "gold_answer": "Abnormal renal cortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06883", "question": "What is associated with Central retinal vein occlusion?", "seeds": [ "Central retinal vein occlusion" ], "gold_answer": "Fundus hemorrhage", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06884", "question": "What is associated with Localized to the penis?", "seeds": [ "Localized to the penis" ], "gold_answer": "Localized", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06885", "question": "What is associated with Paronychia?", "seeds": [ "Paronychia" ], "gold_answer": "Abnormal periungual morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06886", "question": "What is associated with Abnormal humeral epiphysis morphology?", "seeds": [ "Abnormal humeral epiphysis morphology" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06887", "question": "What is associated with Spinal muscular atrophy, segmental?", "seeds": [ "Spinal muscular atrophy, segmental" ], "gold_answer": "Abnormality of the musculature of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06888", "question": "What is associated with Varus instability of the elbow?", "seeds": [ "Varus instability of the elbow" ], "gold_answer": "Elbow instability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06889", "question": "What is associated with Increased HDL3c concentration?", "seeds": [ "Increased HDL3c concentration" ], "gold_answer": "Abnormal HDL subfraction concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06890", "question": "What is associated with Two carpal ossification centers present at birth?", "seeds": [ "Two carpal ossification centers present at birth" ], "gold_answer": "Abnormal hand bone ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06891", "question": "What is associated with Abnormal blood chloride concentration?", "seeds": [ "Abnormal blood chloride concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06892", "question": "What is associated with Infratentorial superficial CNS hemosiderin deposition?", "seeds": [ "Infratentorial superficial CNS hemosiderin deposition" ], "gold_answer": "Superficial CNS hemosiderin deposition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06893", "question": "What is associated with Autosomal dominant spastic paraplegia type 3?", "seeds": [ "Autosomal dominant spastic paraplegia type 3" ], "gold_answer": "Lower limb amyotrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06894", "question": "What is associated with Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies?", "seeds": [ "Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies" ], "gold_answer": "Talipes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06895", "question": "What is associated with Anterior chamber cells?", "seeds": [ "Anterior chamber cells" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06896", "question": "What is associated with Primitive reflex?", "seeds": [ "Primitive reflex" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06897", "question": "What is associated with Partial atrioventricular septal defect without ventricular hypoplasia?", "seeds": [ "Partial atrioventricular septal defect without ventricular hypoplasia" ], "gold_answer": "CRELD1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_06898", "question": "What is associated with Idiopathic juvenile osteoporosis?", "seeds": [ "Idiopathic juvenile osteoporosis" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06899", "question": "What is associated with Premature ovarian insufficiency?", "seeds": [ "Premature ovarian insufficiency" ], "gold_answer": "Abnormal ovarian physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06900", "question": "What is associated with Lung fibroma?", "seeds": [ "Lung fibroma" ], "gold_answer": "Neoplasm of the lung", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06901", "question": "What is associated with Craniosynostosis 2?", "seeds": [ "Craniosynostosis 2" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06902", "question": "What is associated with Increased incisura length?", "seeds": [ "Increased incisura length" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06903", "question": "What is associated with Aplasia of the 2nd finger?", "seeds": [ "Aplasia of the 2nd finger" ], "gold_answer": "Aplasia/hypoplasia involving bones of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06904", "question": "What is associated with Drowsiness?", "seeds": [ "Drowsiness" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06905", "question": "What phenotype is associated with Deafness, autosomal dominant 65?", "seeds": [ "Deafness, autosomal dominant 65" ], "gold_answer": "Progressive hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06906", "question": "What is associated with Tremor, hereditary essential, 4?", "seeds": [ "Tremor, hereditary essential, 4" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06907", "question": "What is associated with Usher syndrome type 3?", "seeds": [ "Usher syndrome type 3" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06908", "question": "What is associated with Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity?", "seeds": [ "Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06909", "question": "What is associated with Congenital hypertrophy of retinal pigment epithelium?", "seeds": [ "Congenital hypertrophy of retinal pigment epithelium" ], "gold_answer": "Abnormal fundus pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06910", "question": "What is associated with Poor recognition of injustice?", "seeds": [ "Poor recognition of injustice" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06911", "question": "What is associated with Acrokeratosis verruciformis of Hopf?", "seeds": [ "Acrokeratosis verruciformis of Hopf" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06912", "question": "What is associated with Abnormal nipple morphology?", "seeds": [ "Abnormal nipple morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06913", "question": "What is associated with Posterior vertebral body notching?", "seeds": [ "Posterior vertebral body notching" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06914", "question": "What is associated with Congenital autosomal recessive small-platelet thrombocytopenia?", "seeds": [ "Congenital autosomal recessive small-platelet thrombocytopenia" ], "gold_answer": "FYB1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06915", "question": "What is associated with Hyperpigmented genitalia?", "seeds": [ "Hyperpigmented genitalia" ], "gold_answer": "Abnormal genital pigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06916", "question": "What is associated with Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and?", "seeds": [ "Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and" ], "gold_answer": "Peripheral neuropathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06917", "question": "What is associated with Temporal cortical atrophy?", "seeds": [ "Temporal cortical atrophy" ], "gold_answer": "Cerebral atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06918", "question": "What is associated with Radial head subluxation?", "seeds": [ "Radial head subluxation" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06919", "question": "What is associated with Spastic paraplegia 52, autosomal recessive?", "seeds": [ "Spastic paraplegia 52, autosomal recessive" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06920", "question": "What is associated with Abnormal pulmonary interstitial morphology?", "seeds": [ "Abnormal pulmonary interstitial morphology" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06921", "question": "What is associated with Abnormal cerebral vein morphology?", "seeds": [ "Abnormal cerebral vein morphology" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06922", "question": "What is associated with Muscle fiber polyglucosan inclusion bodies?", "seeds": [ "Muscle fiber polyglucosan inclusion bodies" ], "gold_answer": "Muscle fiber inclusion bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06923", "question": "What is associated with Meckel syndrome 13?", "seeds": [ "Meckel syndrome 13" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06924", "question": "What is associated with Cardiac hemangioma?", "seeds": [ "Cardiac hemangioma" ], "gold_answer": "Vascular neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06925", "question": "What is associated with Elevated CSF alpha-ketoglutarate concentration?", "seeds": [ "Elevated CSF alpha-ketoglutarate concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06926", "question": "What is associated with Impaired cytokine signaling?", "seeds": [ "Impaired cytokine signaling" ], "gold_answer": "Abnormal cytokine signaling", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06927", "question": "What is associated with Alcohol sensitivity, acute?", "seeds": [ "Alcohol sensitivity, acute" ], "gold_answer": "Flushing", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06928", "question": "What is associated with Small epiphysis of the proximal phalanx of the hallux?", "seeds": [ "Small epiphysis of the proximal phalanx of the hallux" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06929", "question": "What is associated with Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures?", "seeds": [ "Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06930", "question": "What is associated with X-linked adrenal hypoplasia congenita?", "seeds": [ "X-linked adrenal hypoplasia congenita" ], "gold_answer": "Abnormality of the adrenal glands", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06931", "question": "What is associated with Decreased naive CD4+ T cell proportion?", "seeds": [ "Decreased naive CD4+ T cell proportion" ], "gold_answer": "Abnormal naive CD4+ T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06932", "question": "What is associated with Night blindness, congenital stationary, type 1I?", "seeds": [ "Night blindness, congenital stationary, type 1I" ], "gold_answer": "Anomalous trichromacy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06933", "question": "What is associated with Calcium oxalate crystalluria?", "seeds": [ "Calcium oxalate crystalluria" ], "gold_answer": "Crystalluria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06934", "question": "What is associated with Reduced circulating vitamin B6 circulating?", "seeds": [ "Reduced circulating vitamin B6 circulating" ], "gold_answer": "Abnormal circulating vitamin B6 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06935", "question": "What is associated with Coronary artery aneurysm?", "seeds": [ "Coronary artery aneurysm" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06936", "question": "What is associated with Fatiguable weakness of proximal limb muscles?", "seeds": [ "Fatiguable weakness of proximal limb muscles" ], "gold_answer": "Abnormal synaptic transmission at the neuromuscular junction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06937", "question": "What is associated with Renal tubular dysfunction?", "seeds": [ "Renal tubular dysfunction" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06938", "question": "What is associated with Falciform retinal fold?", "seeds": [ "Falciform retinal fold" ], "gold_answer": "Retinal fold", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06939", "question": "What is associated with Body odor?", "seeds": [ "Body odor" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06940", "question": "What is associated with Upper extremity akinesia?", "seeds": [ "Upper extremity akinesia" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06941", "question": "What phenotype is associated with Primary angiitis of the central nervous system?", "seeds": [ "Primary angiitis of the central nervous system" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06942", "question": "What is associated with Inferior pubic ramus hypoplasia?", "seeds": [ "Inferior pubic ramus hypoplasia" ], "gold_answer": "Aplasia/Hypoplasia of the pubic bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06943", "question": "What is associated with Floating-Harbor syndrome?", "seeds": [ "Floating-Harbor syndrome" ], "gold_answer": "Abnormal dental enamel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06944", "question": "What is associated with Optic neuropathy?", "seeds": [ "Optic neuropathy" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06945", "question": "What is associated with Short proximal phalanx of the 2nd toe?", "seeds": [ "Short proximal phalanx of the 2nd toe" ], "gold_answer": "Absent toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06946", "question": "What is associated with Anti-salivary protein antibody positivity?", "seeds": [ "Anti-salivary protein antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06947", "question": "What phenotype is associated with Epidermolysis bullosa acquisita?", "seeds": [ "Epidermolysis bullosa acquisita" ], "gold_answer": "Atypical scarring of skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06948", "question": "What is associated with Decreased mixed venous oxygen saturation?", "seeds": [ "Decreased mixed venous oxygen saturation" ], "gold_answer": "Abnormal mixed venous oxygen saturation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06949", "question": "What is associated with Forward facing earlobe?", "seeds": [ "Forward facing earlobe" ], "gold_answer": "Abnormal earlobe morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06950", "question": "What is associated with Lipodystrophy?", "seeds": [ "Lipodystrophy" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06951", "question": "What is associated with Absent epiphysis of the proximal phalanx of the 4th toe?", "seeds": [ "Absent epiphysis of the proximal phalanx of the 4th toe" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06952", "question": "What phenotype is associated with Rothmund-Thomson syndrome?", "seeds": [ "Rothmund-Thomson syndrome" ], "gold_answer": "Cellulitis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06953", "question": "What is associated with Testicular torsion?", "seeds": [ "Testicular torsion" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06954", "question": "What phenotype is associated with Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction?", "seeds": [ "Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06955", "question": "What is associated with Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome?", "seeds": [ "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome" ], "gold_answer": "TKFC", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06956", "question": "What is associated with Extrahepatic portal hypertension?", "seeds": [ "Extrahepatic portal hypertension" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06957", "question": "What is associated with Recurrent infections?", "seeds": [ "Recurrent infections" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06958", "question": "What is associated with Dry skin?", "seeds": [ "Dry skin" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06959", "question": "What is associated with Epidermolytic hyperkeratosis 2B, autosomal recessive?", "seeds": [ "Epidermolytic hyperkeratosis 2B, autosomal recessive" ], "gold_answer": "ALOX12B", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_06960", "question": "What phenotype is associated with SATB2-associated syndrome due to a chromosomal rearrangement?", "seeds": [ "SATB2-associated syndrome due to a chromosomal rearrangement" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06961", "question": "What is associated with Anti-factor H antibody positivity?", "seeds": [ "Anti-factor H antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06962", "question": "What phenotype is associated with Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome?", "seeds": [ "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06963", "question": "What is associated with Absent vestibular function?", "seeds": [ "Absent vestibular function" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06964", "question": "What is associated with Prostate mass?", "seeds": [ "Prostate mass" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06965", "question": "What phenotype is associated with Neurodevelopmental disorder with or without seizures and gait abnormalities?", "seeds": [ "Neurodevelopmental disorder with or without seizures and gait abnormalities" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06966", "question": "What phenotype is associated with Trichorhinophalangeal syndrome type 1?", "seeds": [ "Trichorhinophalangeal syndrome type 1" ], "gold_answer": "Fragile nails", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06967", "question": "What is associated with Isolated absence of upper arm and forearm with hand present?", "seeds": [ "Isolated absence of upper arm and forearm with hand present" ], "gold_answer": "Abnormal bladder morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06968", "question": "What is associated with Abnormal CSF serine concentration?", "seeds": [ "Abnormal CSF serine concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06969", "question": "What phenotype is associated with Subacute cutaneous lupus erythematosus?", "seeds": [ "Subacute cutaneous lupus erythematosus" ], "gold_answer": "Annular cutaneous lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06970", "question": "What is associated with 9q21.13 microdeletion syndrome?", "seeds": [ "9q21.13 microdeletion syndrome" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06971", "question": "What is associated with Interlobular vein medial hypertrophy?", "seeds": [ "Interlobular vein medial hypertrophy" ], "gold_answer": "Abnormal interlobular vein morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06972", "question": "What phenotype is associated with Familial hyperaldosteronism type I?", "seeds": [ "Familial hyperaldosteronism type I" ], "gold_answer": "Dexamethasone-suppresible primary hyperaldosteronism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06973", "question": "What is associated with Livedo racemosa?", "seeds": [ "Livedo racemosa" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06974", "question": "What is associated with Zygotic cleavage failure?", "seeds": [ "Zygotic cleavage failure" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06975", "question": "What is associated with Reduced muscle fiber lamin A/C?", "seeds": [ "Reduced muscle fiber lamin A/C" ], "gold_answer": "Abnormal muscle fiber protein expression", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06976", "question": "What is associated with Cervical ribs?", "seeds": [ "Cervical ribs" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06977", "question": "What is associated with Elevated hemoglobin A1c?", "seeds": [ "Elevated hemoglobin A1c" ], "gold_answer": "Abnormal hemoglobin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06978", "question": "What is associated with Abnormal thalamic size?", "seeds": [ "Abnormal thalamic size" ], "gold_answer": "Abnormal diencephalon morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06979", "question": "What is associated with Ivory epiphysis of the distal phalanx of the 3rd toe?", "seeds": [ "Ivory epiphysis of the distal phalanx of the 3rd toe" ], "gold_answer": "Ivory epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06980", "question": "What is associated with Reduced radioactive iodine uptake?", "seeds": [ "Reduced radioactive iodine uptake" ], "gold_answer": "Abnormal radioactive iodine uptake test result", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06981", "question": "What phenotype is associated with Dosage-Sensitive sex reversal?", "seeds": [ "Dosage-Sensitive sex reversal" ], "gold_answer": "Sex reversal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06982", "question": "What is associated with Hemophagocytic syndrome associated with an infection?", "seeds": [ "Hemophagocytic syndrome associated with an infection" ], "gold_answer": "Abnormal total neutrophil count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06983", "question": "What is associated with Congenital myopathy 28 with rigid spine?", "seeds": [ "Congenital myopathy 28 with rigid spine" ], "gold_answer": "Abnormal scapula morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06984", "question": "What is associated with Spermatocele?", "seeds": [ "Spermatocele" ], "gold_answer": "Abnormal epididymis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06985", "question": "What is associated with Glutaric acidemia type 3?", "seeds": [ "Glutaric acidemia type 3" ], "gold_answer": "Dicarboxylic aciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06986", "question": "What phenotype is associated with Hypogonadotropic hypogonadism 10 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 10 with or without anosmia" ], "gold_answer": "Decreased serum testosterone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06987", "question": "What is associated with Sphincter of Oddi dyskinesia?", "seeds": [ "Sphincter of Oddi dyskinesia" ], "gold_answer": "Biliary dyskinesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_06988", "question": "What phenotype is associated with Cortical dysplasia, complex, with other brain malformations 9?", "seeds": [ "Cortical dysplasia, complex, with other brain malformations 9" ], "gold_answer": "Reduced cerebral white matter volume", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_06989", "question": "What is associated with Angiomatosis, diffuse corticomeningeal, of divry and van bogaert?", "seeds": [ "Angiomatosis, diffuse corticomeningeal, of divry and van bogaert" ], "gold_answer": "Atrophy/Degeneration affecting the central nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06990", "question": "What is associated with Decreased circulating fetuin A concentration?", "seeds": [ "Decreased circulating fetuin A concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06991", "question": "What is associated with Abnormal neuron branching?", "seeds": [ "Abnormal neuron branching" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06992", "question": "What is associated with Abnormality of tensor veli palatini muscle?", "seeds": [ "Abnormality of tensor veli palatini muscle" ], "gold_answer": "Abnormal soft palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06993", "question": "What is associated with Iga nephropathy, susceptibility to, 3?", "seeds": [ "Iga nephropathy, susceptibility to, 3" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06994", "question": "What is associated with Facial wrinkling?", "seeds": [ "Facial wrinkling" ], "gold_answer": "Prematurely aged appearance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06995", "question": "What is associated with Lateral thrust?", "seeds": [ "Lateral thrust" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06996", "question": "What is associated with Cataract, anterior polar, 1?", "seeds": [ "Cataract, anterior polar, 1" ], "gold_answer": "Polar cataract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_06997", "question": "What is associated with Increased length of the tibia?", "seeds": [ "Increased length of the tibia" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06998", "question": "What is associated with Abnormal hallux morphology?", "seeds": [ "Abnormal hallux morphology" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_06999", "question": "What is associated with Lacunar stroke?", "seeds": [ "Lacunar stroke" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07000", "question": "What is associated with Myoclonus, intractable, neonatal?", "seeds": [ "Myoclonus, intractable, neonatal" ], "gold_answer": "Cerebral ischemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07001", "question": "What is associated with Chronic lymphocytic meningitis?", "seeds": [ "Chronic lymphocytic meningitis" ], "gold_answer": "Meningitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07002", "question": "What is associated with Aplasia/Hypoplasia of the liver?", "seeds": [ "Aplasia/Hypoplasia of the liver" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07003", "question": "What is associated with Abnormal palm morphology?", "seeds": [ "Abnormal palm morphology" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07004", "question": "What is associated with Saccadic oscillation?", "seeds": [ "Saccadic oscillation" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07005", "question": "What is associated with Bone marrow failure syndrome 4?", "seeds": [ "Bone marrow failure syndrome 4" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07006", "question": "What is associated with Frequent falls?", "seeds": [ "Frequent falls" ], "gold_answer": "Functional motor deficit", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07007", "question": "What is associated with Retinopathy, pericentral pigmentary, dominant?", "seeds": [ "Retinopathy, pericentral pigmentary, dominant" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07008", "question": "What is associated with Birk-Barel syndrome?", "seeds": [ "Birk-Barel syndrome" ], "gold_answer": "Peripheral axonal neuropathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07009", "question": "What is associated with Abnormality of the lymphatic system?", "seeds": [ "Abnormality of the lymphatic system" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07010", "question": "What is associated with Epileptic encephalopathy, early infantile, 7?", "seeds": [ "Epileptic encephalopathy, early infantile, 7" ], "gold_answer": "Tetraplegia/tetraparesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07011", "question": "What is associated with Diffuse hepatic steatosis?", "seeds": [ "Diffuse hepatic steatosis" ], "gold_answer": "Lipid accumulation in hepatocytes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07012", "question": "What is associated with Multiple tumor-associated chromosome region 1?", "seeds": [ "Multiple tumor-associated chromosome region 1" ], "gold_answer": "Displacement of the urethral meatus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07013", "question": "What is associated with Broad radial metaphysis?", "seeds": [ "Broad radial metaphysis" ], "gold_answer": "Abnormal radial metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07014", "question": "What is associated with Iron-Refractory iron deficiency anemia?", "seeds": [ "Iron-Refractory iron deficiency anemia" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07015", "question": "What is associated with Familial pseudohyperkalemia?", "seeds": [ "Familial pseudohyperkalemia" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07016", "question": "What is associated with Flat face-microstomia-ear anomaly syndrome?", "seeds": [ "Flat face-microstomia-ear anomaly syndrome" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07017", "question": "What is associated with Osteolytic defects of the phalanges of the 4th finger?", "seeds": [ "Osteolytic defects of the phalanges of the 4th finger" ], "gold_answer": "Osteolytic defects of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07018", "question": "What is associated with Recurrent aphthous stomatitis?", "seeds": [ "Recurrent aphthous stomatitis" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07019", "question": "What is associated with Increased body weight?", "seeds": [ "Increased body weight" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07020", "question": "What is associated with Aplasia of the maxilla?", "seeds": [ "Aplasia of the maxilla" ], "gold_answer": "Aplasia/Hypoplasia of facial bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07021", "question": "What is associated with Pierre-Robin sequence?", "seeds": [ "Pierre-Robin sequence" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07022", "question": "What is associated with Joint laxity, short stature, and myopia?", "seeds": [ "Joint laxity, short stature, and myopia" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07023", "question": "What is associated with Wild type ATTR amyloidosis?", "seeds": [ "Wild type ATTR amyloidosis" ], "gold_answer": "Impaired continence", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07024", "question": "What is associated with Acrokeratosis verruciformis?", "seeds": [ "Acrokeratosis verruciformis" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07025", "question": "What is associated with Prenatal death?", "seeds": [ "Prenatal death" ], "gold_answer": "Clinical course", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07026", "question": "What is associated with Decreased circulating C1q concentration?", "seeds": [ "Decreased circulating C1q concentration" ], "gold_answer": "Reduced circulating complement concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07027", "question": "What is associated with Abnormal circulating protein concentration?", "seeds": [ "Abnormal circulating protein concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07028", "question": "What is associated with Brachydactyly type A1?", "seeds": [ "Brachydactyly type A1" ], "gold_answer": "Aplasia/Hypoplasia of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07029", "question": "What is associated with Waardenburg-Shah syndrome?", "seeds": [ "Waardenburg-Shah syndrome" ], "gold_answer": "Prematurely aged appearance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07030", "question": "What phenotype is associated with Sporadic fetal brain disruption sequence?", "seeds": [ "Sporadic fetal brain disruption sequence" ], "gold_answer": "Intellectual disability, progressive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07031", "question": "What phenotype is associated with Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia?", "seeds": [ "Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia" ], "gold_answer": "Dilated fourth ventricle", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07032", "question": "What phenotype is associated with Diarrhea 7, protein-losing Enteropathy type?", "seeds": [ "Diarrhea 7, protein-losing Enteropathy type" ], "gold_answer": "Hyperlipidemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07033", "question": "What is associated with Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum?", "seeds": [ "Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07034", "question": "What is associated with Warburg micro syndrome 1?", "seeds": [ "Warburg micro syndrome 1" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07035", "question": "What is associated with Hyperdense pulmonary mass?", "seeds": [ "Hyperdense pulmonary mass" ], "gold_answer": "Abnormal pulmonary thoracic imaging finding", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07036", "question": "What is associated with Increased vertical cup-to-disc ratio - 1.0?", "seeds": [ "Increased vertical cup-to-disc ratio - 1.0" ], "gold_answer": "Increased cup-to-disc ratio", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07037", "question": "What is associated with Combined oxidative phosphorylation deficiency 58?", "seeds": [ "Combined oxidative phosphorylation deficiency 58" ], "gold_answer": "Aciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07038", "question": "What is associated with Abnormal morphology of myocardial trabeculae?", "seeds": [ "Abnormal morphology of myocardial trabeculae" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07039", "question": "What is associated with Abnormal synovial bursa morphology?", "seeds": [ "Abnormal synovial bursa morphology" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07040", "question": "What is associated with Absent fetal nasal bone?", "seeds": [ "Absent fetal nasal bone" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07041", "question": "What is associated with Simplified gyral pattern?", "seeds": [ "Simplified gyral pattern" ], "gold_answer": "Abnormal cortical gyration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07042", "question": "What is associated with Retinopathy of prematurity stage 2?", "seeds": [ "Retinopathy of prematurity stage 2" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07043", "question": "What is associated with Elevated circulating beta-CTX concentration?", "seeds": [ "Elevated circulating beta-CTX concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07044", "question": "What is associated with Placidity?", "seeds": [ "Placidity" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07045", "question": "What is associated with Myotonic dystrophy 1?", "seeds": [ "Myotonic dystrophy 1" ], "gold_answer": "Brain atrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07046", "question": "What is associated with Abnormality of the face?", "seeds": [ "Abnormality of the face" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07047", "question": "What is associated with Epileptic encephalopathy, early infantile, 67?", "seeds": [ "Epileptic encephalopathy, early infantile, 67" ], "gold_answer": "Myoclonic seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07048", "question": "What is associated with Forward facing earlobe?", "seeds": [ "Forward facing earlobe" ], "gold_answer": "Abnormal earlobe morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07049", "question": "What phenotype is associated with Cholestasis, progressive familial intrahepatic, 8?", "seeds": [ "Cholestasis, progressive familial intrahepatic, 8" ], "gold_answer": "Increased serum bile acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07050", "question": "What is associated with Reading-induced seizure?", "seeds": [ "Reading-induced seizure" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07051", "question": "What is associated with Epidermolysis bullosa, junctional 2B, severe?", "seeds": [ "Epidermolysis bullosa, junctional 2B, severe" ], "gold_answer": "Blistering by anatomical location", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07052", "question": "What is associated with Increased circulating insulin-like growth factor 1 concentration?", "seeds": [ "Increased circulating insulin-like growth factor 1 concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07053", "question": "What is associated with Dermatochalasis?", "seeds": [ "Dermatochalasis" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07054", "question": "What is associated with Thrombocytopenia-absent radius syndrome?", "seeds": [ "Thrombocytopenia-absent radius syndrome" ], "gold_answer": "Abnormal 5th finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07055", "question": "What is associated with Autonomic bladder dysfunction?", "seeds": [ "Autonomic bladder dysfunction" ], "gold_answer": "Abnormality of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07056", "question": "What phenotype is associated with Stevenson-Carey syndrome?", "seeds": [ "Stevenson-Carey syndrome" ], "gold_answer": "Recurrent urinary tract infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07057", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 51?", "seeds": [ "Ciliary dyskinesia, primary, 51" ], "gold_answer": "Hydrocephalus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07058", "question": "What is associated with Arthrogryposis and ectodermal dysplasia?", "seeds": [ "Arthrogryposis and ectodermal dysplasia" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07059", "question": "What is associated with Acute disseminated encephalomyelitis?", "seeds": [ "Acute disseminated encephalomyelitis" ], "gold_answer": "Abnormal CNS myelination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07060", "question": "What is associated with Decreased total B cell count?", "seeds": [ "Decreased total B cell count" ], "gold_answer": "Abnormal B cell count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07061", "question": "What is associated with Multicentric ossification of proximal femoral epiphyses?", "seeds": [ "Multicentric ossification of proximal femoral epiphyses" ], "gold_answer": "Abnormal enchondral ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07062", "question": "What is associated with Robin sequence, distinctive facial appearance, and brachydactyly?", "seeds": [ "Robin sequence, distinctive facial appearance, and brachydactyly" ], "gold_answer": "Aplasia/Hypoplasia of the nails", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07063", "question": "What is associated with Myopathy and diabetes mellitus?", "seeds": [ "Myopathy and diabetes mellitus" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07064", "question": "What is associated with Absent upper eyelashes?", "seeds": [ "Absent upper eyelashes" ], "gold_answer": "Abnormal eyelash morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07065", "question": "What is associated with Abnormality of the hip-girdle musculature?", "seeds": [ "Abnormality of the hip-girdle musculature" ], "gold_answer": "Abnormal morphology of the pelvis musculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07066", "question": "What is associated with Abnormal location of ears?", "seeds": [ "Abnormal location of ears" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07067", "question": "What is associated with Polydactyly, postaxial, type A2?", "seeds": [ "Polydactyly, postaxial, type A2" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07068", "question": "What is associated with Odontochondrodysplasia?", "seeds": [ "Odontochondrodysplasia" ], "gold_answer": "Aplasia/hypoplasia involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07069", "question": "What is associated with Tobacco use history?", "seeds": [ "Tobacco use history" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07070", "question": "What is associated with Congenital heart defects and ectodermal dysplasia?", "seeds": [ "Congenital heart defects and ectodermal dysplasia" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07071", "question": "What is associated with Abnormal platelet function?", "seeds": [ "Abnormal platelet function" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07072", "question": "What is associated with Elevated circulating carcinoma antigen 125 concentration?", "seeds": [ "Elevated circulating carcinoma antigen 125 concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07073", "question": "What is associated with Fibular deviation of the 3rd toe?", "seeds": [ "Fibular deviation of the 3rd toe" ], "gold_answer": "Deviation of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07074", "question": "What is associated with Oculocutaneous albinism type 5?", "seeds": [ "Oculocutaneous albinism type 5" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07075", "question": "What is associated with Calcium carbonate crystalluria?", "seeds": [ "Calcium carbonate crystalluria" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07076", "question": "What phenotype is associated with Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima?", "seeds": [ "Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima" ], "gold_answer": "Abnormal circulating adrenocorticotropin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07077", "question": "What is associated with Charcot-Marie-Tooth disease, dominant intermediate G?", "seeds": [ "Charcot-Marie-Tooth disease, dominant intermediate G" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07078", "question": "What is associated with DK1-CDG?", "seeds": [ "DK1-CDG" ], "gold_answer": "Abnormal cardiomyocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07079", "question": "What is associated with Optic atrophy 6?", "seeds": [ "Optic atrophy 6" ], "gold_answer": "Abnormal optic disc morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07080", "question": "What is associated with Multiple enchondromatosis, Maffucci type?", "seeds": [ "Multiple enchondromatosis, Maffucci type" ], "gold_answer": "EXT1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "candidate_gene_tested_in" } }, { "query_id": "orph_train_07081", "question": "What is associated with ALK-positive anaplastic large cell lymphoma?", "seeds": [ "ALK-positive anaplastic large cell lymphoma" ], "gold_answer": "ALK", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_07082", "question": "What is associated with Spinocerebellar ataxia type 21?", "seeds": [ "Spinocerebellar ataxia type 21" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07083", "question": "What is associated with Asymmetry of the mouth?", "seeds": [ "Asymmetry of the mouth" ], "gold_answer": "Abnormality of mouth shape", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07084", "question": "What is associated with Abnormal substantia nigra morphology?", "seeds": [ "Abnormal substantia nigra morphology" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07085", "question": "What phenotype is associated with Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart?", "seeds": [ "Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07086", "question": "What is associated with Focal cortical dysplasia type Ia?", "seeds": [ "Focal cortical dysplasia type Ia" ], "gold_answer": "Focal cortical dysplasia type I", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07087", "question": "What is associated with Decreased platelet glycoprotein VI?", "seeds": [ "Decreased platelet glycoprotein VI" ], "gold_answer": "Abnormal platelet membrane protein expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07088", "question": "What is associated with Reduced circulating lactate dehydrogenase concentration?", "seeds": [ "Reduced circulating lactate dehydrogenase concentration" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07089", "question": "What is associated with Abnormal respiratory system morphology?", "seeds": [ "Abnormal respiratory system morphology" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07090", "question": "What is associated with Painless mass?", "seeds": [ "Painless mass" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07091", "question": "What is associated with Stippling of the epiphysis of the proximal phalanx of the hallux?", "seeds": [ "Stippling of the epiphysis of the proximal phalanx of the hallux" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07092", "question": "What is associated with Orofaciodigital syndrome XIV?", "seeds": [ "Orofaciodigital syndrome XIV" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07093", "question": "What is associated with Reduced phosphoserine phosphatase activity in cultured fibroblasts?", "seeds": [ "Reduced phosphoserine phosphatase activity in cultured fibroblasts" ], "gold_answer": "Abnormal enzyme activity in cultured fibroblasts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07094", "question": "What is associated with Abnormal dental root morphology?", "seeds": [ "Abnormal dental root morphology" ], "gold_answer": "Abnormal dental morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07095", "question": "What is associated with Increased ratio of VWF propeptide to VWF antigen?", "seeds": [ "Increased ratio of VWF propeptide to VWF antigen" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07096", "question": "What is associated with Severe platyspondyly?", "seeds": [ "Severe platyspondyly" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07097", "question": "What is associated with Late first trimester onset?", "seeds": [ "Late first trimester onset" ], "gold_answer": "Fetal onset", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07098", "question": "What phenotype is associated with Neutropenia, chronic familial?", "seeds": [ "Neutropenia, chronic familial" ], "gold_answer": "Clubbing of fingers", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07099", "question": "What is associated with Maternal diabetes?", "seeds": [ "Maternal diabetes" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07100", "question": "What is associated with Ocular motor apraxia?", "seeds": [ "Ocular motor apraxia" ], "gold_answer": "Apraxia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07101", "question": "What is associated with Progressive myoclonic epilepsy type 8?", "seeds": [ "Progressive myoclonic epilepsy type 8" ], "gold_answer": "CERS1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_07102", "question": "What is associated with Ataxia-oculomotor apraxia type 1?", "seeds": [ "Ataxia-oculomotor apraxia type 1" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07103", "question": "What is associated with Absent nasal cartilage?", "seeds": [ "Absent nasal cartilage" ], "gold_answer": "Abnormal nasal cartilage morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07104", "question": "What is associated with Posterior fossa mass lesion?", "seeds": [ "Posterior fossa mass lesion" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07105", "question": "What phenotype is associated with Spinocerebellar ataxia type 14?", "seeds": [ "Spinocerebellar ataxia type 14" ], "gold_answer": "Saccadic smooth pursuit", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07106", "question": "What is associated with Joubert syndrome 37?", "seeds": [ "Joubert syndrome 37" ], "gold_answer": "Abnormal frontal bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07107", "question": "What is associated with Decreased anti-CD3/28-induced T-cell proliferation?", "seeds": [ "Decreased anti-CD3/28-induced T-cell proliferation" ], "gold_answer": "Abnormal T cell physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07108", "question": "What is associated with Retinal telangiectasia?", "seeds": [ "Retinal telangiectasia" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07109", "question": "What is associated with Adenocarcinoma of the small intestine?", "seeds": [ "Adenocarcinoma of the small intestine" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07110", "question": "What is associated with Wide radioulnar joints?", "seeds": [ "Wide radioulnar joints" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07111", "question": "What is associated with Combined oxidative phosphorylation deficiency 30?", "seeds": [ "Combined oxidative phosphorylation deficiency 30" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07112", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the thumb?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the thumb" ], "gold_answer": "Sclerosis of middle phalanx of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07113", "question": "What is associated with Spinal muscular atrophy?", "seeds": [ "Spinal muscular atrophy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07114", "question": "What is associated with Multiple rib fractures?", "seeds": [ "Multiple rib fractures" ], "gold_answer": "Abnormal rib morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07115", "question": "What is associated with Balanitis?", "seeds": [ "Balanitis" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07116", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, demyelinating, type 1J?", "seeds": [ "Charcot-Marie-Tooth disease, demyelinating, type 1J" ], "gold_answer": "Decreased motor nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07117", "question": "What is associated with Anti-Kelch like protein 11 antibody positivity?", "seeds": [ "Anti-Kelch like protein 11 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07118", "question": "What is associated with Speech apraxia?", "seeds": [ "Speech apraxia" ], "gold_answer": "Apraxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07119", "question": "What phenotype is associated with 6-pyruvoyl-tetrahydropterin synthase deficiency?", "seeds": [ "6-pyruvoyl-tetrahydropterin synthase deficiency" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07120", "question": "What is associated with Congenitally uncorrected transposition of the great arteries with cardiac malformation?", "seeds": [ "Congenitally uncorrected transposition of the great arteries with cardiac malformation" ], "gold_answer": "CFC1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "candidate_gene_tested_in" } }, { "query_id": "orph_train_07121", "question": "What is associated with Abnormal transitional B cell proportion?", "seeds": [ "Abnormal transitional B cell proportion" ], "gold_answer": "Abnormal B cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07122", "question": "What is associated with Posterior corneal stroma punctiform multicolored opacities?", "seeds": [ "Posterior corneal stroma punctiform multicolored opacities" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07123", "question": "What is associated with CLOVES syndrome?", "seeds": [ "CLOVES syndrome" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07124", "question": "What is associated with Hip flexor weakness?", "seeds": [ "Hip flexor weakness" ], "gold_answer": "Limb-girdle muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07125", "question": "What is associated with Discrete fundus hypopigmentation?", "seeds": [ "Discrete fundus hypopigmentation" ], "gold_answer": "Fundus hypopigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07126", "question": "What is associated with Lymphatic malformation 3?", "seeds": [ "Lymphatic malformation 3" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07127", "question": "What is associated with Broad-based gait?", "seeds": [ "Broad-based gait" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07128", "question": "What is associated with Nodular melanoma?", "seeds": [ "Nodular melanoma" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07129", "question": "What is associated with Superior rectus atrophy?", "seeds": [ "Superior rectus atrophy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07130", "question": "What is associated with Elevated urinary cytidine?", "seeds": [ "Elevated urinary cytidine" ], "gold_answer": "Abnormal urinary pyrimidine level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07131", "question": "What is associated with Focal aware cognitive seizure with conduction dysphasia/aphasia?", "seeds": [ "Focal aware cognitive seizure with conduction dysphasia/aphasia" ], "gold_answer": "Focal aware seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07132", "question": "What is associated with Metaphyseal chondromatosis of humerus?", "seeds": [ "Metaphyseal chondromatosis of humerus" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07133", "question": "What is associated with Median pseudocleft lip?", "seeds": [ "Median pseudocleft lip" ], "gold_answer": "Abnormal upper lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07134", "question": "What is associated with Corneal dystrophy, Fuchs endothelial, 4?", "seeds": [ "Corneal dystrophy, Fuchs endothelial, 4" ], "gold_answer": "Abnormal corneal endothelium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07135", "question": "What is associated with Absent nasal septal cartilage?", "seeds": [ "Absent nasal septal cartilage" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07136", "question": "What is associated with Preretinal hemorrhage?", "seeds": [ "Preretinal hemorrhage" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07137", "question": "What is associated with Charcot-Marie-Tooth disease, dominant intermediate E?", "seeds": [ "Charcot-Marie-Tooth disease, dominant intermediate E" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07138", "question": "What is associated with Dementia?", "seeds": [ "Dementia" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07139", "question": "What is associated with Melanoma, uveal, susceptibility to, 2?", "seeds": [ "Melanoma, uveal, susceptibility to, 2" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07140", "question": "What is associated with Oligodontia of primary teeth?", "seeds": [ "Oligodontia of primary teeth" ], "gold_answer": "Oligodontia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07141", "question": "What is associated with Hypoketotic hypoglycemia?", "seeds": [ "Hypoketotic hypoglycemia" ], "gold_answer": "Abnormal blood glucose concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07142", "question": "What is associated with Decreased CSF N-acetyl-aspartyl-glutamate concentration?", "seeds": [ "Decreased CSF N-acetyl-aspartyl-glutamate concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07143", "question": "What is associated with Increased red blood cell count?", "seeds": [ "Increased red blood cell count" ], "gold_answer": "Abnormal red blood cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07144", "question": "What is associated with Intellectual developmental disorder with seizures and language delay?", "seeds": [ "Intellectual developmental disorder with seizures and language delay" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07145", "question": "What is associated with Cataract 1, multiple types?", "seeds": [ "Cataract 1, multiple types" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07146", "question": "What is associated with ANOSMIA?", "seeds": [ "ANOSMIA" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07147", "question": "What is associated with Usher syndrome, type IIC?", "seeds": [ "Usher syndrome, type IIC" ], "gold_answer": "Retinal dystrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07148", "question": "What is associated with Oculopharyngodistal myopathy?", "seeds": [ "Oculopharyngodistal myopathy" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07149", "question": "What is associated with Abnormal pancreatic acinus morphology?", "seeds": [ "Abnormal pancreatic acinus morphology" ], "gold_answer": "Abnormal pancreas morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07150", "question": "What is associated with Pai syndrome?", "seeds": [ "Pai syndrome" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07151", "question": "What is associated with Epilepsy, familial temporal lobe, 4?", "seeds": [ "Epilepsy, familial temporal lobe, 4" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07152", "question": "What is associated with Agenesis of lateral incisor?", "seeds": [ "Agenesis of lateral incisor" ], "gold_answer": "Abnormal number of incisors", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07153", "question": "What is associated with Modic type III vertebral endplate changes?", "seeds": [ "Modic type III vertebral endplate changes" ], "gold_answer": "Modic type vertebral endplate changes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07154", "question": "What is associated with Woronets trait?", "seeds": [ "Woronets trait" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07155", "question": "What is associated with Fanconi anemia, complementation group V?", "seeds": [ "Fanconi anemia, complementation group V" ], "gold_answer": "Abnormal circulating alpha-fetoprotein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07156", "question": "What is associated with Nasolacrimal sac obstruction?", "seeds": [ "Nasolacrimal sac obstruction" ], "gold_answer": "Abnormal lacrimal sac morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07157", "question": "What is associated with Paroxysmal rectal pain?", "seeds": [ "Paroxysmal rectal pain" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07158", "question": "What is associated with Fragmentation of the epiphyses of the 4th finger?", "seeds": [ "Fragmentation of the epiphyses of the 4th finger" ], "gold_answer": "Abnormal hand epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07159", "question": "What is associated with Plaque-form urticaria pigmentosa?", "seeds": [ "Plaque-form urticaria pigmentosa" ], "gold_answer": "KIT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_07160", "question": "What is associated with Hypocapnia in cord blood?", "seeds": [ "Hypocapnia in cord blood" ], "gold_answer": "Abnormal cord blood measurement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07161", "question": "What is associated with Nephronophthisis 18?", "seeds": [ "Nephronophthisis 18" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07162", "question": "What is associated with Diminishment of sexual behavior?", "seeds": [ "Diminishment of sexual behavior" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07163", "question": "What is associated with Diabetes mellitus, insulin-dependent, 15?", "seeds": [ "Diabetes mellitus, insulin-dependent, 15" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07164", "question": "What is associated with Abnormal hematocrit?", "seeds": [ "Abnormal hematocrit" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07165", "question": "What is associated with Curved phalanges of the hand?", "seeds": [ "Curved phalanges of the hand" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07166", "question": "What is associated with Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2?", "seeds": [ "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07167", "question": "What phenotype is associated with Myasthenic syndrome, congenital, 25, presynaptic?", "seeds": [ "Myasthenic syndrome, congenital, 25, presynaptic" ], "gold_answer": "Severe muscular hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07168", "question": "What is associated with Positive Coombs test?", "seeds": [ "Positive Coombs test" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07169", "question": "What is associated with Paraseptal?", "seeds": [ "Paraseptal" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07170", "question": "What is associated with Torsion of appendix of testis?", "seeds": [ "Torsion of appendix of testis" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07171", "question": "What is associated with Fanconi anemia, complementation group O?", "seeds": [ "Fanconi anemia, complementation group O" ], "gold_answer": "Aplasia/Hypoplasia of the thumb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07172", "question": "What is associated with Anti-lamin C antibody positivity?", "seeds": [ "Anti-lamin C antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07173", "question": "What is associated with Abnormality of the gastrointestinal tract?", "seeds": [ "Abnormality of the gastrointestinal tract" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07174", "question": "What phenotype is associated with VACTERL with hydrocephalus?", "seeds": [ "VACTERL with hydrocephalus" ], "gold_answer": "Morphological abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07175", "question": "What phenotype is associated with Variegate porphyria, childhood-onset?", "seeds": [ "Variegate porphyria, childhood-onset" ], "gold_answer": "Fragile skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07176", "question": "What is associated with Decreased acrosin in sperm head?", "seeds": [ "Decreased acrosin in sperm head" ], "gold_answer": "Abnormal sperm head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07177", "question": "What is associated with Retinal astrocytic hamartoma?", "seeds": [ "Retinal astrocytic hamartoma" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07178", "question": "What is associated with Bracket epiphysis of the proximal phalanx of the 4th toe?", "seeds": [ "Bracket epiphysis of the proximal phalanx of the 4th toe" ], "gold_answer": "Abnormality of the epiphyses of the 4th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07179", "question": "What is associated with Fractured proximal epiphysis of middle phalanx of manual digit 3?", "seeds": [ "Fractured proximal epiphysis of middle phalanx of manual digit 3" ], "gold_answer": "Fragmentation of the epiphyses of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07180", "question": "What is associated with Hermansky-Pudlak syndrome 9?", "seeds": [ "Hermansky-Pudlak syndrome 9" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07181", "question": "What phenotype is associated with Congenitally corrected transposition of the great arteries?", "seeds": [ "Congenitally corrected transposition of the great arteries" ], "gold_answer": "Pulmonary artery stenosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07182", "question": "What is associated with Proximal spinal muscular atrophy type 4?", "seeds": [ "Proximal spinal muscular atrophy type 4" ], "gold_answer": "SMN1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_07183", "question": "What is associated with Cholestasis, progressive familial intrahepatic 2?", "seeds": [ "Cholestasis, progressive familial intrahepatic 2" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07184", "question": "What is associated with Reduced proximal interphalangeal joint space?", "seeds": [ "Reduced proximal interphalangeal joint space" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07185", "question": "What is associated with Enlarged epiphysis of the distal phalanx of the 4th toe?", "seeds": [ "Enlarged epiphysis of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormality of the epiphyses of the 4th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07186", "question": "What phenotype is associated with Acrokeratoelastoidosis of Costa?", "seeds": [ "Acrokeratoelastoidosis of Costa" ], "gold_answer": "Skin plaque", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07187", "question": "What is associated with Absent cavum septum pellucidum?", "seeds": [ "Absent cavum septum pellucidum" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07188", "question": "What phenotype is associated with Alagille syndrome 2?", "seeds": [ "Alagille syndrome 2" ], "gold_answer": "Cholestatic liver disease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07189", "question": "What is associated with Xanthinuria?", "seeds": [ "Xanthinuria" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07190", "question": "What is associated with Motor tics?", "seeds": [ "Motor tics" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07191", "question": "What is associated with Focal behavior arrest seizure?", "seeds": [ "Focal behavior arrest seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07192", "question": "What is associated with Hepatitis?", "seeds": [ "Hepatitis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07193", "question": "What is associated with Delayed tarsal ossification?", "seeds": [ "Delayed tarsal ossification" ], "gold_answer": "Abnormality of the tarsal bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07194", "question": "What is associated with Reduced red cell pyruvate kinase level?", "seeds": [ "Reduced red cell pyruvate kinase level" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07195", "question": "What is associated with Retinal arteriolar occlusion?", "seeds": [ "Retinal arteriolar occlusion" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07196", "question": "What is associated with Anti-glomerular basement membrane disease?", "seeds": [ "Anti-glomerular basement membrane disease" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07197", "question": "What is associated with Viral hepatitis?", "seeds": [ "Viral hepatitis" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07198", "question": "What is associated with Essential fructosuria?", "seeds": [ "Essential fructosuria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07199", "question": "What is associated with Transient decreased circulating IgG3?", "seeds": [ "Transient decreased circulating IgG3" ], "gold_answer": "Decreased circulating IgG3 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07200", "question": "What phenotype is associated with Parkinson disease 13?", "seeds": [ "Parkinson disease 13" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07201", "question": "What is associated with Hypotonia, ataxia, and delayed development syndrome?", "seeds": [ "Hypotonia, ataxia, and delayed development syndrome" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07202", "question": "What is associated with Absent knee epiphyses?", "seeds": [ "Absent knee epiphyses" ], "gold_answer": "Absent epiphyses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07203", "question": "What is associated with Enlarged amygdala?", "seeds": [ "Enlarged amygdala" ], "gold_answer": "Abnormal amygdala morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07204", "question": "What is associated with Osteopathia striata?", "seeds": [ "Osteopathia striata" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07205", "question": "What is associated with Keratoconjunctivitis sicca?", "seeds": [ "Keratoconjunctivitis sicca" ], "gold_answer": "Keratoconjunctivitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07206", "question": "What is associated with Prolonged bleeding time?", "seeds": [ "Prolonged bleeding time" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07207", "question": "What is associated with Andersen cardiodysrhythmic periodic paralysis?", "seeds": [ "Andersen cardiodysrhythmic periodic paralysis" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07208", "question": "What is associated with Adactyly?", "seeds": [ "Adactyly" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07209", "question": "What phenotype is associated with Joubert syndrome with Jeune asphyxiating thoracic dystrophy?", "seeds": [ "Joubert syndrome with Jeune asphyxiating thoracic dystrophy" ], "gold_answer": "Dysgenesis of the cerebellar vermis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07210", "question": "What is associated with Anterior mediastinal mass?", "seeds": [ "Anterior mediastinal mass" ], "gold_answer": "Inferior mediastinal mass", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07211", "question": "What phenotype is associated with Neonatal alloimmune neutropenia?", "seeds": [ "Neonatal alloimmune neutropenia" ], "gold_answer": "Maternal diabetes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07212", "question": "What phenotype is associated with Pulmonary fibrosis, idiopathic?", "seeds": [ "Pulmonary fibrosis, idiopathic" ], "gold_answer": "Elevated bronchoalveolar lavage fluid neutrophil proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07213", "question": "What is associated with Interstitial dermal edema?", "seeds": [ "Interstitial dermal edema" ], "gold_answer": "Abnormal dermis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07214", "question": "What is associated with Superficial blush-like subcutaneous fatty lesions?", "seeds": [ "Superficial blush-like subcutaneous fatty lesions" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07215", "question": "What phenotype is associated with Deafness, autosomal recessive 6?", "seeds": [ "Deafness, autosomal recessive 6" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07216", "question": "What is associated with Drug-sensitive hemolytic anemia?", "seeds": [ "Drug-sensitive hemolytic anemia" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07217", "question": "What is associated with Pulmonary histoplasmosis?", "seeds": [ "Pulmonary histoplasmosis" ], "gold_answer": "Histoplasmosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07218", "question": "What is associated with Abnormal Descemet membrane morphology?", "seeds": [ "Abnormal Descemet membrane morphology" ], "gold_answer": "Abnormal corneal endothelium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07219", "question": "What is associated with High-frequency sensorineural hearing impairment?", "seeds": [ "High-frequency sensorineural hearing impairment" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07220", "question": "What phenotype is associated with Homozygous familial hypercholesterolemia?", "seeds": [ "Homozygous familial hypercholesterolemia" ], "gold_answer": "Hyperlipidemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07221", "question": "What phenotype is associated with Pulmonary alveolar proteinosis with hypogammaglobulinemia?", "seeds": [ "Pulmonary alveolar proteinosis with hypogammaglobulinemia" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07222", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 18?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 18" ], "gold_answer": "Supraventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07223", "question": "What phenotype is associated with Pontocerebellar hypoplasia type 10?", "seeds": [ "Pontocerebellar hypoplasia type 10" ], "gold_answer": "Abnormality of the cerebral cortex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07224", "question": "What is associated with Large basal ganglia?", "seeds": [ "Large basal ganglia" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07225", "question": "What is associated with Rounded epiphyses?", "seeds": [ "Rounded epiphyses" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07226", "question": "What is associated with Popliteal synovial cyst?", "seeds": [ "Popliteal synovial cyst" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07227", "question": "What is associated with Severe SARS-CoV-2 infection?", "seeds": [ "Severe SARS-CoV-2 infection" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07228", "question": "What phenotype is associated with Retinal dystrophy with or without extraocular anomalies?", "seeds": [ "Retinal dystrophy with or without extraocular anomalies" ], "gold_answer": "Retinal dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07229", "question": "What is associated with Renal arteriolar lumen cholesterol emboli?", "seeds": [ "Renal arteriolar lumen cholesterol emboli" ], "gold_answer": "Abnormal renal arteriole lumen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07230", "question": "What is associated with Aplasia of the proximal phalanx of the 5th toe?", "seeds": [ "Aplasia of the proximal phalanx of the 5th toe" ], "gold_answer": "Abnormal fifth toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07231", "question": "What is associated with Anti-streptococcus deoxyribonuclease-B antibody positivity?", "seeds": [ "Anti-streptococcus deoxyribonuclease-B antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07232", "question": "What phenotype is associated with Retinitis pigmentosa 90?", "seeds": [ "Retinitis pigmentosa 90" ], "gold_answer": "Attenuation of retinal blood vessels", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07233", "question": "What is associated with Obtuse angle of mandible?", "seeds": [ "Obtuse angle of mandible" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07234", "question": "What phenotype is associated with Gaucher disease, type II?", "seeds": [ "Gaucher disease, type II" ], "gold_answer": "Esophageal ulceration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07235", "question": "What is associated with Two-raphe bicuspid aortic valve?", "seeds": [ "Two-raphe bicuspid aortic valve" ], "gold_answer": "Bicuspid aortic valve", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07236", "question": "What is associated with Solitary congenital hypertrophy of retinal pigment epithelium?", "seeds": [ "Solitary congenital hypertrophy of retinal pigment epithelium" ], "gold_answer": "Abnormal fundus pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07237", "question": "What is associated with Pure red cell aplasia?", "seeds": [ "Pure red cell aplasia" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07238", "question": "What is associated with Colorectal cancer, susceptibility to, 12?", "seeds": [ "Colorectal cancer, susceptibility to, 12" ], "gold_answer": "Neoplasm of the rectum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07239", "question": "What is associated with Triggered by food ingestion?", "seeds": [ "Triggered by food ingestion" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07240", "question": "What is associated with Abnormal pulmonary artery morphology?", "seeds": [ "Abnormal pulmonary artery morphology" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07241", "question": "What is associated with Dysplasia of the femoral head?", "seeds": [ "Dysplasia of the femoral head" ], "gold_answer": "Abnormal femoral head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07242", "question": "What is associated with Aphakia?", "seeds": [ "Aphakia" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07243", "question": "What is associated with Poor appetite?", "seeds": [ "Poor appetite" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07244", "question": "What is associated with Gingival cleft?", "seeds": [ "Gingival cleft" ], "gold_answer": "Abnormality of the gingiva", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07245", "question": "What phenotype is associated with Dyskinesia with orofacial involvement, autosomal recessive?", "seeds": [ "Dyskinesia with orofacial involvement, autosomal recessive" ], "gold_answer": "Dysarthria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07246", "question": "What is associated with Bullet-shaped 5th toe phalanx?", "seeds": [ "Bullet-shaped 5th toe phalanx" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07247", "question": "What is associated with Vegan diet?", "seeds": [ "Vegan diet" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07248", "question": "What phenotype is associated with Asparagine synthetase deficiency?", "seeds": [ "Asparagine synthetase deficiency" ], "gold_answer": "Optic nerve aplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07249", "question": "What is associated with Abnormality of the epiphysis of the middle phalanx of the 4th toe?", "seeds": [ "Abnormality of the epiphysis of the middle phalanx of the 4th toe" ], "gold_answer": "Abnormality of the epiphyses of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07250", "question": "What is associated with Adrenal medullary hypoplasia?", "seeds": [ "Adrenal medullary hypoplasia" ], "gold_answer": "Adrenal hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07251", "question": "What is associated with Hyperpyrexia?", "seeds": [ "Hyperpyrexia" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07252", "question": "What is associated with Bilateral parasagittal parieto-occipital polymicrogyria?", "seeds": [ "Bilateral parasagittal parieto-occipital polymicrogyria" ], "gold_answer": "Disorder of thought content", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07253", "question": "What is associated with Garg-Mishra progeroid syndrome?", "seeds": [ "Garg-Mishra progeroid syndrome" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07254", "question": "What phenotype is associated with Deafness, autosomal dominant 53?", "seeds": [ "Deafness, autosomal dominant 53" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07255", "question": "What is associated with Pontocerebellar hypoplasia, type 8?", "seeds": [ "Pontocerebellar hypoplasia, type 8" ], "gold_answer": "Abnormal social behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07256", "question": "What is associated with Pelvic mass?", "seeds": [ "Pelvic mass" ], "gold_answer": "Abnormal abdomen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07257", "question": "What is associated with Sparse axillary hair?", "seeds": [ "Sparse axillary hair" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07258", "question": "What is associated with Carcinoid syndrome?", "seeds": [ "Carcinoid syndrome" ], "gold_answer": "Abdominal pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07259", "question": "What phenotype is associated with Ankyloblepharon filiforme adnatum and cleft palate?", "seeds": [ "Ankyloblepharon filiforme adnatum and cleft palate" ], "gold_answer": "Ankyloblepharon", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07260", "question": "What phenotype is associated with X-linked dominant chondrodysplasia punctata?", "seeds": [ "X-linked dominant chondrodysplasia punctata" ], "gold_answer": "Paraparesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07261", "question": "What is associated with Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10?", "seeds": [ "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10" ], "gold_answer": "Severe infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07262", "question": "What is associated with Torsion of the penis?", "seeds": [ "Torsion of the penis" ], "gold_answer": "Abnormal penis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07263", "question": "What phenotype is associated with Citrulline transport defect?", "seeds": [ "Citrulline transport defect" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07264", "question": "What is associated with ERG: Reduced dark-adapted b-wave amplitude?", "seeds": [ "ERG: Reduced dark-adapted b-wave amplitude" ], "gold_answer": "Abnormal dark-adapted bright flash electroretinogram", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07265", "question": "What is associated with Charcot-Marie-Tooth disease type 1B?", "seeds": [ "Charcot-Marie-Tooth disease type 1B" ], "gold_answer": "Peripheral axonal degeneration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07266", "question": "What is associated with Extension of hair growth on temples to lateral eyebrow?", "seeds": [ "Extension of hair growth on temples to lateral eyebrow" ], "gold_answer": "Abnormality of the frontal hairline", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07267", "question": "What is associated with Retinitis pigmentosa 96, autosomal dominant?", "seeds": [ "Retinitis pigmentosa 96, autosomal dominant" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07268", "question": "What is associated with Hemolytic uremic syndrome, atypical, susceptibility to, 3?", "seeds": [ "Hemolytic uremic syndrome, atypical, susceptibility to, 3" ], "gold_answer": "Decreased urine output", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07269", "question": "What is associated with Facial tics?", "seeds": [ "Facial tics" ], "gold_answer": "Disturbance of facial expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07270", "question": "What is associated with Elevated cancer Ag 19-9 level?", "seeds": [ "Elevated cancer Ag 19-9 level" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07271", "question": "What is associated with Medulloepithelioma?", "seeds": [ "Medulloepithelioma" ], "gold_answer": "Central primitive neuroectodermal tumor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07272", "question": "What phenotype is associated with Osteopetrosis, autosomal recessive 2?", "seeds": [ "Osteopetrosis, autosomal recessive 2" ], "gold_answer": "Hydrocephalus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07273", "question": "What is associated with 46,XY complete gonadal dysgenesis?", "seeds": [ "46,XY complete gonadal dysgenesis" ], "gold_answer": "Ovarian cyst", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07274", "question": "What is associated with Celiac disease, susceptibility to, 1?", "seeds": [ "Celiac disease, susceptibility to, 1" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07275", "question": "What is associated with Abnormality of the epiphysis of the distal phalanx of the thumb?", "seeds": [ "Abnormality of the epiphysis of the distal phalanx of the thumb" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07276", "question": "What is associated with Mitochondrial DNA depletion syndrome 4A (Alpers type)?", "seeds": [ "Mitochondrial DNA depletion syndrome 4A (Alpers type)" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07277", "question": "What is associated with Retinal pigment epithelial mottling?", "seeds": [ "Retinal pigment epithelial mottling" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07278", "question": "What is associated with Nephrotic syndrome, type 16?", "seeds": [ "Nephrotic syndrome, type 16" ], "gold_answer": "Abnormal urine cytology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07279", "question": "What is associated with Akathisia?", "seeds": [ "Akathisia" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07280", "question": "What is associated with Epidermolysis bullosa simplex 1B, generalized intermediate?", "seeds": [ "Epidermolysis bullosa simplex 1B, generalized intermediate" ], "gold_answer": "Abnormality of the plantar skin of foot", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07281", "question": "What phenotype is associated with Combined immunodeficiency due to DOCK8 deficiency?", "seeds": [ "Combined immunodeficiency due to DOCK8 deficiency" ], "gold_answer": "Recurrent sinusitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07282", "question": "What is associated with Spiculated?", "seeds": [ "Spiculated" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07283", "question": "What is associated with Curry-Jones syndrome?", "seeds": [ "Curry-Jones syndrome" ], "gold_answer": "Abnormality of globe size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07284", "question": "What is associated with White streaks/specks on enamel.?", "seeds": [ "White streaks/specks on enamel." ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07285", "question": "What is associated with Glycogen storage disease 0, liver?", "seeds": [ "Glycogen storage disease 0, liver" ], "gold_answer": "Abnormal blood glucose concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07286", "question": "What is associated with Familial Mediterranean fever?", "seeds": [ "Familial Mediterranean fever" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07287", "question": "What is associated with Autoimmune interstitial lung, joint, and kidney disease?", "seeds": [ "Autoimmune interstitial lung, joint, and kidney disease" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07288", "question": "What is associated with Chronic otitis media?", "seeds": [ "Chronic otitis media" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07289", "question": "What is associated with Abnormal urinary electrolyte concentration?", "seeds": [ "Abnormal urinary electrolyte concentration" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07290", "question": "What is associated with Increased circulating hemoglobin concentration?", "seeds": [ "Increased circulating hemoglobin concentration" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07291", "question": "What is associated with Malignant hyperthermia, susceptibility to, 2?", "seeds": [ "Malignant hyperthermia, susceptibility to, 2" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07292", "question": "What phenotype is associated with Muckle-Wells syndrome?", "seeds": [ "Muckle-Wells syndrome" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07293", "question": "What is associated with Thoracolaryngopelvic dysplasia?", "seeds": [ "Thoracolaryngopelvic dysplasia" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07294", "question": "What is associated with Hypermelanotic macule?", "seeds": [ "Hypermelanotic macule" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07295", "question": "What is associated with Distal deletion 9p syndrome?", "seeds": [ "Distal deletion 9p syndrome" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07296", "question": "What is associated with Aplasia/Hypoplasia involving the metacarpal bones?", "seeds": [ "Aplasia/Hypoplasia involving the metacarpal bones" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07297", "question": "What is associated with 46,xy sex reversal 7?", "seeds": [ "46,xy sex reversal 7" ], "gold_answer": "Aplasia/Hypoplasia of the ovary", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07298", "question": "What phenotype is associated with Acrofacial dysostosis, Rodríguez type?", "seeds": [ "Acrofacial dysostosis, Rodríguez type" ], "gold_answer": "Fibular hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07299", "question": "What is associated with Portal vein hypoplasia?", "seeds": [ "Portal vein hypoplasia" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07300", "question": "What is associated with Increased vertical cup-to-disc ratio - 1.0?", "seeds": [ "Increased vertical cup-to-disc ratio - 1.0" ], "gold_answer": "Abnormal optic disc morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07301", "question": "What phenotype is associated with Macrodactyly, somatic?", "seeds": [ "Macrodactyly, somatic" ], "gold_answer": "Macrodactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07302", "question": "What phenotype is associated with Bifid uvula?", "seeds": [ "Bifid uvula" ], "gold_answer": "Submucous cleft soft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07303", "question": "What is associated with Potassium-wasting diuretic exposure?", "seeds": [ "Potassium-wasting diuretic exposure" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07304", "question": "What is associated with Vulvar abscess?", "seeds": [ "Vulvar abscess" ], "gold_answer": "Abnormal immune system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07305", "question": "What is associated with Emphysema?", "seeds": [ "Emphysema" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07306", "question": "What is associated with Abnormality of the epiphysis of the proximal phalanx of the 2nd toe?", "seeds": [ "Abnormality of the epiphysis of the proximal phalanx of the 2nd toe" ], "gold_answer": "Abnormal second toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07307", "question": "What is associated with Midline notch of upper alveolar ridge?", "seeds": [ "Midline notch of upper alveolar ridge" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07308", "question": "What phenotype is associated with Oculoectodermal syndrome?", "seeds": [ "Oculoectodermal syndrome" ], "gold_answer": "Synophrys", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07309", "question": "What is associated with Osteochondral lesion of talus?", "seeds": [ "Osteochondral lesion of talus" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07310", "question": "What is associated with Abnormality of the proximal phalanx of the thumb?", "seeds": [ "Abnormality of the proximal phalanx of the thumb" ], "gold_answer": "Abnormality of thumb phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07311", "question": "What is associated with Osteolytic defects of the phalanges of the 4th finger?", "seeds": [ "Osteolytic defects of the phalanges of the 4th finger" ], "gold_answer": "Osteolytic defects of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07312", "question": "What phenotype is associated with Tularemia?", "seeds": [ "Tularemia" ], "gold_answer": "Meningitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07313", "question": "What is associated with Increased circulating mead acid level?", "seeds": [ "Increased circulating mead acid level" ], "gold_answer": "Elevated circulating long chain fatty acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07314", "question": "What is associated with Abnormal circulating enzyme concentration?", "seeds": [ "Abnormal circulating enzyme concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07315", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 10?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 10" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07316", "question": "What is associated with Sebaceous hyperplasia?", "seeds": [ "Sebaceous hyperplasia" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07317", "question": "What is associated with Hypocitraturia?", "seeds": [ "Hypocitraturia" ], "gold_answer": "Abnormal urine citrate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07318", "question": "What is associated with Hidrotic ectodermal dysplasia, Christianson-Fourie type?", "seeds": [ "Hidrotic ectodermal dysplasia, Christianson-Fourie type" ], "gold_answer": "Absent hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07319", "question": "What is associated with Lumbar spondylosis?", "seeds": [ "Lumbar spondylosis" ], "gold_answer": "Abnormal lumbar spine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07320", "question": "What is associated with Harel-Yoon syndrome?", "seeds": [ "Harel-Yoon syndrome" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07321", "question": "What is associated with Immunodeficiency 124, severe combined?", "seeds": [ "Immunodeficiency 124, severe combined" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07322", "question": "What is associated with Atrial septal defect-atrioventricular conduction defects syndrome?", "seeds": [ "Atrial septal defect-atrioventricular conduction defects syndrome" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07323", "question": "What is associated with Pseudo-Von willebrand disease?", "seeds": [ "Pseudo-Von willebrand disease" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07324", "question": "What is associated with Pontocerebellar hypoplasia, type 2C?", "seeds": [ "Pontocerebellar hypoplasia, type 2C" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07325", "question": "What is associated with Spherocytosis, type 2?", "seeds": [ "Spherocytosis, type 2" ], "gold_answer": "Abnormal abdomen morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07326", "question": "What is associated with Fractured sternoclavicular joint?", "seeds": [ "Fractured sternoclavicular joint" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07327", "question": "What is associated with Abnormal circulating amylase concentration?", "seeds": [ "Abnormal circulating amylase concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07328", "question": "What is associated with Reduced sterol 27-hydroxylase activity?", "seeds": [ "Reduced sterol 27-hydroxylase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07329", "question": "What is associated with Abnormality of the distal phalanx of the 3rd toe?", "seeds": [ "Abnormality of the distal phalanx of the 3rd toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07330", "question": "What is associated with Cerebral amyloid angiopathy, APP-related?", "seeds": [ "Cerebral amyloid angiopathy, APP-related" ], "gold_answer": "Abnormal cerebral artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07331", "question": "What is associated with Medially flattened radial epiphyses?", "seeds": [ "Medially flattened radial epiphyses" ], "gold_answer": "Flattened radial epiphyses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07332", "question": "What is associated with Thyroid hormonogenesis, genetic defect in, 3?", "seeds": [ "Thyroid hormonogenesis, genetic defect in, 3" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07333", "question": "What is associated with Increased monosialylated core 1 O-glycan level?", "seeds": [ "Increased monosialylated core 1 O-glycan level" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07334", "question": "What is associated with Elevated CSF neopterin level?", "seeds": [ "Elevated CSF neopterin level" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07335", "question": "What is associated with Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency?", "seeds": [ "Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency" ], "gold_answer": "AP3D1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_07336", "question": "What phenotype is associated with Jessner lymphocytic infiltration of the skin?", "seeds": [ "Jessner lymphocytic infiltration of the skin" ], "gold_answer": "Cutaneous photosensitivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07337", "question": "What is associated with Global developmental delay, lung cysts, overgrowth, and wilms tumor?", "seeds": [ "Global developmental delay, lung cysts, overgrowth, and wilms tumor" ], "gold_answer": "Aplasia/Hypoplasia of the iris", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07338", "question": "What is associated with Shortening of all phalanges of fingers?", "seeds": [ "Shortening of all phalanges of fingers" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07339", "question": "What is associated with Ullrich congenital muscular dystrophy?", "seeds": [ "Ullrich congenital muscular dystrophy" ], "gold_answer": "COL6A3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_07340", "question": "What is associated with Jaw pain?", "seeds": [ "Jaw pain" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07341", "question": "What is associated with Long eyelashes?", "seeds": [ "Long eyelashes" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07342", "question": "What is associated with Patchy sclerosis of 3rd toe phalanx?", "seeds": [ "Patchy sclerosis of 3rd toe phalanx" ], "gold_answer": "Patchy sclerosis of toe phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07343", "question": "What is associated with Carpal displacement?", "seeds": [ "Carpal displacement" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07344", "question": "What phenotype is associated with MEHMO syndrome?", "seeds": [ "MEHMO syndrome" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07345", "question": "What is associated with Bone marrow granuloma?", "seeds": [ "Bone marrow granuloma" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07346", "question": "What is associated with Ochronosis?", "seeds": [ "Ochronosis" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07347", "question": "What is associated with Retinitis pigmentosa 33?", "seeds": [ "Retinitis pigmentosa 33" ], "gold_answer": "Pigmentary retinopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07348", "question": "What is associated with Increased mannosylation of N-linked protein glycosylation?", "seeds": [ "Increased mannosylation of N-linked protein glycosylation" ], "gold_answer": "Abnormal protein N-linked glycosylation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07349", "question": "What is associated with DEAFNESS, Y-LINKED 2?", "seeds": [ "DEAFNESS, Y-LINKED 2" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07350", "question": "What is associated with Abnormal corneal epithelium morphology?", "seeds": [ "Abnormal corneal epithelium morphology" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07351", "question": "What is associated with 5-minute APGAR score of 6?", "seeds": [ "5-minute APGAR score of 6" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07352", "question": "What is associated with Sclerosis of the middle phalanx of the 2nd finger?", "seeds": [ "Sclerosis of the middle phalanx of the 2nd finger" ], "gold_answer": "Sclerosis of 2nd finger phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07353", "question": "What is associated with Posterior staphyloma?", "seeds": [ "Posterior staphyloma" ], "gold_answer": "Scleral staphyloma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07354", "question": "What is associated with Palatal edema?", "seeds": [ "Palatal edema" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07355", "question": "What is associated with Hemiballismus?", "seeds": [ "Hemiballismus" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07356", "question": "What is associated with Restrictive external ophthalmoplegia?", "seeds": [ "Restrictive external ophthalmoplegia" ], "gold_answer": "External ophthalmoplegia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07357", "question": "What is associated with Cutis laxa, autosomal recessive, type IIIB?", "seeds": [ "Cutis laxa, autosomal recessive, type IIIB" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07358", "question": "What is associated with OSTEOMESOPYKNOSIS?", "seeds": [ "OSTEOMESOPYKNOSIS" ], "gold_answer": "Back pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07359", "question": "What is associated with Abnormality of inferior crus of antihelix?", "seeds": [ "Abnormality of inferior crus of antihelix" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07360", "question": "What is associated with Absent antitragus?", "seeds": [ "Absent antitragus" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07361", "question": "What is associated with Impaired gluconeogenesis?", "seeds": [ "Impaired gluconeogenesis" ], "gold_answer": "Abnormal glucose homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07362", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 10?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 10" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07363", "question": "What is associated with Renal tubular epithelial cell simplification?", "seeds": [ "Renal tubular epithelial cell simplification" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07364", "question": "What is associated with Aplasia/Hypoplasia of the distal phalanx of the 4th toe?", "seeds": [ "Aplasia/Hypoplasia of the distal phalanx of the 4th toe" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07365", "question": "What is associated with Hypoparathyroidism?", "seeds": [ "Hypoparathyroidism" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07366", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 47?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 47" ], "gold_answer": "Mitral valve prolapse", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07367", "question": "What is associated with Multiple suture craniosynostosis?", "seeds": [ "Multiple suture craniosynostosis" ], "gold_answer": "Abnormal cranial suture/fontanelle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07368", "question": "What is associated with New medication added in recent weeks?", "seeds": [ "New medication added in recent weeks" ], "gold_answer": "Recent past medical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07369", "question": "What is associated with Temporal pattern?", "seeds": [ "Temporal pattern" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07370", "question": "What is associated with Increased urinary glycerol?", "seeds": [ "Increased urinary glycerol" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07371", "question": "What phenotype is associated with Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation?", "seeds": [ "Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation" ], "gold_answer": "Increased CSF lactate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07372", "question": "What phenotype is associated with Osteogenesis imperfecta, type VII?", "seeds": [ "Osteogenesis imperfecta, type VII" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07373", "question": "What is associated with Hernia, double inguinal?", "seeds": [ "Hernia, double inguinal" ], "gold_answer": "Hernia of the abdominal wall", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07374", "question": "What is associated with Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included?", "seeds": [ "Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07375", "question": "What is associated with Spinocerebellar atrophy?", "seeds": [ "Spinocerebellar atrophy" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07376", "question": "What phenotype is associated with Diamond-Blackfan anemia 22?", "seeds": [ "Diamond-Blackfan anemia 22" ], "gold_answer": "Cellular hypersensitivity to mitomycin C", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07377", "question": "What is associated with Broad middle phalanx of the 5th finger?", "seeds": [ "Broad middle phalanx of the 5th finger" ], "gold_answer": "Broad middle phalanx of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07378", "question": "What is associated with Idiopathic bronchiectasis?", "seeds": [ "Idiopathic bronchiectasis" ], "gold_answer": "Weight loss", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07379", "question": "What is associated with Abnormal epidermis stratum granulosum morphology?", "seeds": [ "Abnormal epidermis stratum granulosum morphology" ], "gold_answer": "Abnormal epidermal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07380", "question": "What phenotype is associated with Carey-Fineman-Ziter syndrome?", "seeds": [ "Carey-Fineman-Ziter syndrome" ], "gold_answer": "Esophageal neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07381", "question": "What is associated with Vasculitis in the skin?", "seeds": [ "Vasculitis in the skin" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07382", "question": "What phenotype is associated with Immune defect due to absence of thymus?", "seeds": [ "Immune defect due to absence of thymus" ], "gold_answer": "Reduced delayed hypersensitivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07383", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" ], "gold_answer": "Abnormal tendon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07384", "question": "What is associated with Abnormal premolar morphology?", "seeds": [ "Abnormal premolar morphology" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07385", "question": "What phenotype is associated with Retinitis pigmentosa 55?", "seeds": [ "Retinitis pigmentosa 55" ], "gold_answer": "Rod-cone dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07386", "question": "What is associated with Osteolytic defects of the middle phalanx of the 2nd toe?", "seeds": [ "Osteolytic defects of the middle phalanx of the 2nd toe" ], "gold_answer": "Abnormal second toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07387", "question": "What is associated with Abnormal respiratory motile cilium morphology?", "seeds": [ "Abnormal respiratory motile cilium morphology" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07388", "question": "What is associated with Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies?", "seeds": [ "Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07389", "question": "What is associated with Methicillin-resistant Staphylococcus aureus infection?", "seeds": [ "Methicillin-resistant Staphylococcus aureus infection" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07390", "question": "What phenotype is associated with VACTERL association, X-linked?", "seeds": [ "VACTERL association, X-linked" ], "gold_answer": "Hydronephrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07391", "question": "What is associated with Reduced aromatase activity?", "seeds": [ "Reduced aromatase activity" ], "gold_answer": "Abnormal aromatase activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07392", "question": "What is associated with Hypotrichosis 5?", "seeds": [ "Hypotrichosis 5" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07393", "question": "What is associated with Displacement of the extensor tendon in metacarpophalangeal joint?", "seeds": [ "Displacement of the extensor tendon in metacarpophalangeal joint" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07394", "question": "What is associated with Cardiorespiratory arrest?", "seeds": [ "Cardiorespiratory arrest" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07395", "question": "What is associated with Aplasia/Hypoplasia of the 5th toe?", "seeds": [ "Aplasia/Hypoplasia of the 5th toe" ], "gold_answer": "Absent toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07396", "question": "What is associated with Increased hemoglobin oxygen affinity?", "seeds": [ "Increased hemoglobin oxygen affinity" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07397", "question": "What is associated with Male-limited expression?", "seeds": [ "Male-limited expression" ], "gold_answer": "Sex-limited expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07398", "question": "What is associated with X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome?", "seeds": [ "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07399", "question": "What is associated with Calcification of cartilage?", "seeds": [ "Calcification of cartilage" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07400", "question": "What is associated with Ectodermal dysplasia 7, Hair/nail type?", "seeds": [ "Ectodermal dysplasia 7, Hair/nail type" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07401", "question": "What is associated with Abnormal CSF aromatic amino acid concentration?", "seeds": [ "Abnormal CSF aromatic amino acid concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07402", "question": "What is associated with Spermatogenic failure, X-linked, 4?", "seeds": [ "Spermatogenic failure, X-linked, 4" ], "gold_answer": "Decreased circulating androgen concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07403", "question": "What is associated with Congenital hypertrophy of retinal pigment epithelium?", "seeds": [ "Congenital hypertrophy of retinal pigment epithelium" ], "gold_answer": "Fundus hyperpigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07404", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 34?", "seeds": [ "Epileptic encephalopathy, early infantile, 34" ], "gold_answer": "Delayed CNS myelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07405", "question": "What is associated with Immunodeficiency, common variable, 11?", "seeds": [ "Immunodeficiency, common variable, 11" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07406", "question": "What is associated with Spastic paraplegia 51, autosomal recessive?", "seeds": [ "Spastic paraplegia 51, autosomal recessive" ], "gold_answer": "Cerebral palsy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07407", "question": "What is associated with Abnormal circulating proteinogenic amino acid concentration?", "seeds": [ "Abnormal circulating proteinogenic amino acid concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07408", "question": "What is associated with Bifid proximal phalanx of the thumb?", "seeds": [ "Bifid proximal phalanx of the thumb" ], "gold_answer": "Duplication of the middle phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07409", "question": "What is associated with Elevated circulating membrane cofactor protein concentration?", "seeds": [ "Elevated circulating membrane cofactor protein concentration" ], "gold_answer": "Abnormal circulating membrane cofactor protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07410", "question": "What is associated with Neoplasm of the adrenal gland?", "seeds": [ "Neoplasm of the adrenal gland" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07411", "question": "What is associated with Increased cerebral lipofuscin?", "seeds": [ "Increased cerebral lipofuscin" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07412", "question": "What is associated with Sudden cardiac failure, infantile?", "seeds": [ "Sudden cardiac failure, infantile" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07413", "question": "What is associated with Cervical (neck)?", "seeds": [ "Cervical (neck)" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07414", "question": "What phenotype is associated with Adult intestinal botulism?", "seeds": [ "Adult intestinal botulism" ], "gold_answer": "Respiratory insufficiency due to muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07415", "question": "What is associated with Abnormal sella turcica morphology?", "seeds": [ "Abnormal sella turcica morphology" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07416", "question": "What is associated with Renpenning syndrome?", "seeds": [ "Renpenning syndrome" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07417", "question": "What is associated with Cortical subperiosteal resorption of humeral metaphyses?", "seeds": [ "Cortical subperiosteal resorption of humeral metaphyses" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07418", "question": "What is associated with Sclerosis of metaphyses of the upper limbs?", "seeds": [ "Sclerosis of metaphyses of the upper limbs" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07419", "question": "What is associated with Cortical radial artery leukocyte hypercellularity?", "seeds": [ "Cortical radial artery leukocyte hypercellularity" ], "gold_answer": "Abnormal cortical radial artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07420", "question": "What is associated with Multicentric ossification of proximal femoral epiphyses?", "seeds": [ "Multicentric ossification of proximal femoral epiphyses" ], "gold_answer": "Abnormal femoral head morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07421", "question": "What is associated with Spastic paraplegia 72B, autosomal recessive?", "seeds": [ "Spastic paraplegia 72B, autosomal recessive" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07422", "question": "What is associated with Positive stool giardia antigen?", "seeds": [ "Positive stool giardia antigen" ], "gold_answer": "Abnormal stool composition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07423", "question": "What is associated with Anterior segment dysgenesis 3?", "seeds": [ "Anterior segment dysgenesis 3" ], "gold_answer": "Abnormal pupil morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07424", "question": "What is associated with Neurodevelopmental disorder with dystonia and seizures?", "seeds": [ "Neurodevelopmental disorder with dystonia and seizures" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07425", "question": "What is associated with Ceroid lipofuscinosis, neuronal, 6?", "seeds": [ "Ceroid lipofuscinosis, neuronal, 6" ], "gold_answer": "Atrophy/Degeneration affecting the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07426", "question": "What is associated with Immune dysregulation?", "seeds": [ "Immune dysregulation" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07427", "question": "What is associated with Lateral rectus muscle weakness?", "seeds": [ "Lateral rectus muscle weakness" ], "gold_answer": "Abnormal lateral rectus muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07428", "question": "What is associated with Split-Hand/foot malformation 2?", "seeds": [ "Split-Hand/foot malformation 2" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07429", "question": "What is associated with Abnormal chylomicron concentration?", "seeds": [ "Abnormal chylomicron concentration" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07430", "question": "What is associated with Contracture of the metatarsophalangeal joint of the 5th toe?", "seeds": [ "Contracture of the metatarsophalangeal joint of the 5th toe" ], "gold_answer": "Flexion contracture of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07431", "question": "What is associated with Blotching pigmentation of the skin?", "seeds": [ "Blotching pigmentation of the skin" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07432", "question": "What is associated with Lateral rectus muscle weakness?", "seeds": [ "Lateral rectus muscle weakness" ], "gold_answer": "Abnormal horizontal rectus muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07433", "question": "What is associated with Secondary hypercortisolism?", "seeds": [ "Secondary hypercortisolism" ], "gold_answer": "Abnormality of adrenal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07434", "question": "What is associated with Retinal peau d'orange?", "seeds": [ "Retinal peau d'orange" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07435", "question": "What is associated with Elevated circulating phosphoethanolamine concentration?", "seeds": [ "Elevated circulating phosphoethanolamine concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07436", "question": "What is associated with Cone-shaped epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Cone-shaped epiphysis of the proximal phalanx of the 4th finger" ], "gold_answer": "Cone-shaped epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07437", "question": "What is associated with Inguinal freckling?", "seeds": [ "Inguinal freckling" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07438", "question": "What is associated with Vagal paraganglioma?", "seeds": [ "Vagal paraganglioma" ], "gold_answer": "Paraganglioma of head and neck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07439", "question": "What is associated with Spastic paraparesis-deafness syndrome?", "seeds": [ "Spastic paraparesis-deafness syndrome" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07440", "question": "What is associated with Focal aware emotional seizure with anger?", "seeds": [ "Focal aware emotional seizure with anger" ], "gold_answer": "Focal emotional seizure with anger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07441", "question": "What is associated with Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia?", "seeds": [ "Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07442", "question": "What is associated with Irregular tarsal ossification?", "seeds": [ "Irregular tarsal ossification" ], "gold_answer": "Abnormal tarsal ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07443", "question": "What is associated with Salivary basal cell adenoma?", "seeds": [ "Salivary basal cell adenoma" ], "gold_answer": "Neoplasm of the oral cavity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07444", "question": "What is associated with Abnormal proximal phalanx morphology of the hand?", "seeds": [ "Abnormal proximal phalanx morphology of the hand" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07445", "question": "What is associated with Thiamine-responsive maple syrup urine disease?", "seeds": [ "Thiamine-responsive maple syrup urine disease" ], "gold_answer": "DBT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_07446", "question": "What is associated with Lupus nephritis?", "seeds": [ "Lupus nephritis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07447", "question": "What is associated with Abnormal gastrointestinal transit time?", "seeds": [ "Abnormal gastrointestinal transit time" ], "gold_answer": "Abnormal gastrointestinal motility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07448", "question": "What is associated with Abnormal reproductive system morphology?", "seeds": [ "Abnormal reproductive system morphology" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07449", "question": "What phenotype is associated with Autoinflammatory syndrome, familial, with or without immunodeficiency?", "seeds": [ "Autoinflammatory syndrome, familial, with or without immunodeficiency" ], "gold_answer": "Lymphadenopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07450", "question": "What is associated with Chronic lymphatic leukemia?", "seeds": [ "Chronic lymphatic leukemia" ], "gold_answer": "Hematological neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07451", "question": "What is associated with Meier-Gorlin syndrome 1?", "seeds": [ "Meier-Gorlin syndrome 1" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07452", "question": "What is associated with Anticardiolipin IgG antibody positivity?", "seeds": [ "Anticardiolipin IgG antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07453", "question": "What is associated with Abnormal pulmonary fissure count?", "seeds": [ "Abnormal pulmonary fissure count" ], "gold_answer": "Abnormal pulmonary fissure morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07454", "question": "What is associated with Diamond-Blackfan anemia 4?", "seeds": [ "Diamond-Blackfan anemia 4" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07455", "question": "What is associated with Enlarged epiphyses of the 4th finger?", "seeds": [ "Enlarged epiphyses of the 4th finger" ], "gold_answer": "Enlarged epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07456", "question": "What phenotype is associated with Inflammatory bowel disease 28, early onset, autosomal recessive?", "seeds": [ "Inflammatory bowel disease 28, early onset, autosomal recessive" ], "gold_answer": "Crohn's disease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07457", "question": "What is associated with Deafness, autosomal recessive 91?", "seeds": [ "Deafness, autosomal recessive 91" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07458", "question": "What is associated with Cranial asymmetry?", "seeds": [ "Cranial asymmetry" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07459", "question": "What is associated with Ehlers-danlos syndrome, Hypermobility type?", "seeds": [ "Ehlers-danlos syndrome, Hypermobility type" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07460", "question": "What is associated with Confusion?", "seeds": [ "Confusion" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07461", "question": "What is associated with Specific anosmia?", "seeds": [ "Specific anosmia" ], "gold_answer": "Abnormality of the sense of smell", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07462", "question": "What is associated with Abnormality of the epiphysis of the middle phalanx of the 3rd toe?", "seeds": [ "Abnormality of the epiphysis of the middle phalanx of the 3rd toe" ], "gold_answer": "Abnormal third toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07463", "question": "What is associated with Complex palmar dermatoglyphic pattern?", "seeds": [ "Complex palmar dermatoglyphic pattern" ], "gold_answer": "Abnormal palmar dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07464", "question": "What is associated with Chest pain triggered by palpation?", "seeds": [ "Chest pain triggered by palpation" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07465", "question": "What phenotype is associated with Centrifugal lipodystrophy?", "seeds": [ "Centrifugal lipodystrophy" ], "gold_answer": "Erythema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07466", "question": "What phenotype is associated with Idiopathic panuveitis?", "seeds": [ "Idiopathic panuveitis" ], "gold_answer": "Vitreous haze", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07467", "question": "What phenotype is associated with Facial clefting, oblique, 1?", "seeds": [ "Facial clefting, oblique, 1" ], "gold_answer": "Talipes calcaneovalgus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07468", "question": "What is associated with Abnormal pulmonary vein physiology?", "seeds": [ "Abnormal pulmonary vein physiology" ], "gold_answer": "Abnormality of the pulmonary veins", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07469", "question": "What is associated with Abnormal femoral epiphysis morphology?", "seeds": [ "Abnormal femoral epiphysis morphology" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07470", "question": "What is associated with Bardet-Biedl syndrome 14?", "seeds": [ "Bardet-Biedl syndrome 14" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07471", "question": "What is associated with FLNA-related X-linked myxomatous valvular dysplasia?", "seeds": [ "FLNA-related X-linked myxomatous valvular dysplasia" ], "gold_answer": "FLNA", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_07472", "question": "What is associated with Anti-recoverin antibody positivity?", "seeds": [ "Anti-recoverin antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07473", "question": "What is associated with Partial absence of foot?", "seeds": [ "Partial absence of foot" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07474", "question": "What is associated with Saccadic smooth pursuit interruptions?", "seeds": [ "Saccadic smooth pursuit interruptions" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07475", "question": "What phenotype is associated with Immunodeficiency 84?", "seeds": [ "Immunodeficiency 84" ], "gold_answer": "Decreased total B cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07476", "question": "What is associated with Hypophoria?", "seeds": [ "Hypophoria" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07477", "question": "What is associated with Vestibulopathy, familial?", "seeds": [ "Vestibulopathy, familial" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07478", "question": "What is associated with Out-toeing?", "seeds": [ "Out-toeing" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07479", "question": "What is associated with Delayed ability to roll over?", "seeds": [ "Delayed ability to roll over" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07480", "question": "What phenotype is associated with Dental radicular dysplasia?", "seeds": [ "Dental radicular dysplasia" ], "gold_answer": "Hypoplasia of the dental root", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07481", "question": "What is associated with Premature ovarian failure 15?", "seeds": [ "Premature ovarian failure 15" ], "gold_answer": "Amenorrhea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07482", "question": "What is associated with Cerebral cortical atrophy?", "seeds": [ "Cerebral cortical atrophy" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07483", "question": "What is associated with Oliver syndrome?", "seeds": [ "Oliver syndrome" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07484", "question": "What is associated with Increased circulating free T3?", "seeds": [ "Increased circulating free T3" ], "gold_answer": "Abnormal circulating free T3 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07485", "question": "What is associated with Auriculocondylar syndrome 3?", "seeds": [ "Auriculocondylar syndrome 3" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07486", "question": "What phenotype is associated with Deafness, sensorineural, with pituitary dwarfism?", "seeds": [ "Deafness, sensorineural, with pituitary dwarfism" ], "gold_answer": "Gonadotropin deficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07487", "question": "What is associated with Congenital myopathy 26?", "seeds": [ "Congenital myopathy 26" ], "gold_answer": "Lower limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07488", "question": "What is associated with Immunodeficiency 42?", "seeds": [ "Immunodeficiency 42" ], "gold_answer": "Stomatitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07489", "question": "What is associated with Pseudoaminopterin syndrome?", "seeds": [ "Pseudoaminopterin syndrome" ], "gold_answer": "Conductive hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07490", "question": "What is associated with Hereditary sensory and autonomic neuropathy type 6?", "seeds": [ "Hereditary sensory and autonomic neuropathy type 6" ], "gold_answer": "DST", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_07491", "question": "What is associated with Autosomal dominant brachyolmia?", "seeds": [ "Autosomal dominant brachyolmia" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07492", "question": "What is associated with Gallbladder biliary sludging?", "seeds": [ "Gallbladder biliary sludging" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07493", "question": "What is associated with Reduced circulating aldolase concentration?", "seeds": [ "Reduced circulating aldolase concentration" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07494", "question": "What is associated with Iris hyperemia?", "seeds": [ "Iris hyperemia" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07495", "question": "What is associated with Myelodysplasia and leukemia syndrome with monosomy 7?", "seeds": [ "Myelodysplasia and leukemia syndrome with monosomy 7" ], "gold_answer": "Abnormal mean corpuscular volume", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07496", "question": "What is associated with Wiedemann-Rautenstrauch syndrome?", "seeds": [ "Wiedemann-Rautenstrauch syndrome" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07497", "question": "What is associated with Recurrent herpes?", "seeds": [ "Recurrent herpes" ], "gold_answer": "Unusual viral infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07498", "question": "What is associated with Deafness, autosomal recessive 16?", "seeds": [ "Deafness, autosomal recessive 16" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07499", "question": "What is associated with Hypertonia?", "seeds": [ "Hypertonia" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07500", "question": "What is associated with Thick anterior alveolar ridges?", "seeds": [ "Thick anterior alveolar ridges" ], "gold_answer": "Abnormal alveolar ridge morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07501", "question": "What is associated with Radiation sensitivity of natural killer activity?", "seeds": [ "Radiation sensitivity of natural killer activity" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07502", "question": "What is associated with Nasal bones, absence of?", "seeds": [ "Nasal bones, absence of" ], "gold_answer": "Abnormal columella morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07503", "question": "What is associated with ALG8-CDG?", "seeds": [ "ALG8-CDG" ], "gold_answer": "Abnormal placental size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07504", "question": "What is associated with Lack of pupillary response to hydroxyamphetamine?", "seeds": [ "Lack of pupillary response to hydroxyamphetamine" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07505", "question": "What is associated with Vascular granular osmiophilic material deposition?", "seeds": [ "Vascular granular osmiophilic material deposition" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07506", "question": "What is associated with Unossified vertebral bodies?", "seeds": [ "Unossified vertebral bodies" ], "gold_answer": "Abnormal enchondral ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07507", "question": "What is associated with Aplasia/Hypoplasia of the calvaria?", "seeds": [ "Aplasia/Hypoplasia of the calvaria" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07508", "question": "What is associated with Short sleep, familial natural, 2?", "seeds": [ "Short sleep, familial natural, 2" ], "gold_answer": "Sleep-wake cycle disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07509", "question": "What is associated with Nance-Horan syndrome?", "seeds": [ "Nance-Horan syndrome" ], "gold_answer": "Tooth malposition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07510", "question": "What is associated with Anti-muscle-specific tyrosine kinase antibody?", "seeds": [ "Anti-muscle-specific tyrosine kinase antibody" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07511", "question": "What is associated with Aminoaciduria?", "seeds": [ "Aminoaciduria" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07512", "question": "What is associated with Anomalous origin of right pulmonary artery from ascending aorta?", "seeds": [ "Anomalous origin of right pulmonary artery from ascending aorta" ], "gold_answer": "Abnormal pulmonary artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07513", "question": "What is associated with Nuclear cataract?", "seeds": [ "Nuclear cataract" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07514", "question": "What is associated with Bronchial telangiectasia?", "seeds": [ "Bronchial telangiectasia" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07515", "question": "What is associated with Speech articulation difficulties?", "seeds": [ "Speech articulation difficulties" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07516", "question": "What is associated with Wrist ganglion?", "seeds": [ "Wrist ganglion" ], "gold_answer": "Abnormality of the wrist", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07517", "question": "What is associated with Posterior Y-sutural cataract?", "seeds": [ "Posterior Y-sutural cataract" ], "gold_answer": "Sutural cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07518", "question": "What is associated with AIDS wasting syndrome?", "seeds": [ "AIDS wasting syndrome" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07519", "question": "What is associated with Achalasia, familial esophageal?", "seeds": [ "Achalasia, familial esophageal" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07520", "question": "What is associated with Highly elevated creatine kinase?", "seeds": [ "Highly elevated creatine kinase" ], "gold_answer": "Elevated circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07521", "question": "What is associated with Jaw claudication?", "seeds": [ "Jaw claudication" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07522", "question": "What is associated with Deafness, autosomal recessive 116?", "seeds": [ "Deafness, autosomal recessive 116" ], "gold_answer": "Somatic sensory dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07523", "question": "What phenotype is associated with Kaya-Barakat-Masson syndrome?", "seeds": [ "Kaya-Barakat-Masson syndrome" ], "gold_answer": "Spastic tetraplegia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07524", "question": "What is associated with Dysgyria with normal cortical thickness?", "seeds": [ "Dysgyria with normal cortical thickness" ], "gold_answer": "Abnormal cortical gyration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07525", "question": "What is associated with Pleural cyst?", "seeds": [ "Pleural cyst" ], "gold_answer": "Abnormal pleura morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07526", "question": "What is associated with Ehlers-Danlos syndrome, arthrochalasia type, 1?", "seeds": [ "Ehlers-Danlos syndrome, arthrochalasia type, 1" ], "gold_answer": "Knee dislocation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07527", "question": "What is associated with Limited Repertoire of gestures?", "seeds": [ "Limited Repertoire of gestures" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07528", "question": "What is associated with Male hypogonadism?", "seeds": [ "Male hypogonadism" ], "gold_answer": "Functional abnormality of male internal genitalia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07529", "question": "What is associated with Unilateral lung agenesis?", "seeds": [ "Unilateral lung agenesis" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07530", "question": "What phenotype is associated with Hypogonadotropic hypogonadism 10 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 10 with or without anosmia" ], "gold_answer": "Primary amenorrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07531", "question": "What is associated with Class I obesity?", "seeds": [ "Class I obesity" ], "gold_answer": "Increased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07532", "question": "What is associated with Localized along nerve distribution?", "seeds": [ "Localized along nerve distribution" ], "gold_answer": "Localized", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07533", "question": "What phenotype is associated with Spondyloocular syndrome?", "seeds": [ "Spondyloocular syndrome" ], "gold_answer": "Abnormal sclera morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07534", "question": "What phenotype is associated with Ascites, chylous?", "seeds": [ "Ascites, chylous" ], "gold_answer": "Pancreatitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07535", "question": "What is associated with Acetabular erosions?", "seeds": [ "Acetabular erosions" ], "gold_answer": "Abnormal hip joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07536", "question": "What is associated with Motor axonal neuropathy?", "seeds": [ "Motor axonal neuropathy" ], "gold_answer": "Abnormal peripheral nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07537", "question": "What phenotype is associated with Thrombotic thrombocytopenic purpura?", "seeds": [ "Thrombotic thrombocytopenic purpura" ], "gold_answer": "Acute kidney injury", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07538", "question": "What is associated with Isolated asymptomatic elevation of creatine phosphokinase?", "seeds": [ "Isolated asymptomatic elevation of creatine phosphokinase" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07539", "question": "What is associated with Aplasia/Hypoplasia of the 3rd metacarpal?", "seeds": [ "Aplasia/Hypoplasia of the 3rd metacarpal" ], "gold_answer": "Aplasia/hypoplasia involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07540", "question": "What is associated with Neuronal loss in the cerebral cortex?", "seeds": [ "Neuronal loss in the cerebral cortex" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07541", "question": "What is associated with Multifocal epileptiform discharges?", "seeds": [ "Multifocal epileptiform discharges" ], "gold_answer": "EEG with focal epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07542", "question": "What is associated with Optic nerve misrouting?", "seeds": [ "Optic nerve misrouting" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07543", "question": "What is associated with Chronic hepatic encephalopathy?", "seeds": [ "Chronic hepatic encephalopathy" ], "gold_answer": "Encephalopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07544", "question": "What is associated with Growth hormone deficiency, isolated partial?", "seeds": [ "Growth hormone deficiency, isolated partial" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07545", "question": "What phenotype is associated with Epidermolytic hyperkeratosis 2B, autosomal recessive?", "seeds": [ "Epidermolytic hyperkeratosis 2B, autosomal recessive" ], "gold_answer": "Keratinocyte vacuolization", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07546", "question": "What is associated with Lymph node abscess?", "seeds": [ "Lymph node abscess" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07547", "question": "What is associated with Abnormal CSF lysine concentration?", "seeds": [ "Abnormal CSF lysine concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07548", "question": "What is associated with Postaxial tetramelic oligodactyly?", "seeds": [ "Postaxial tetramelic oligodactyly" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07549", "question": "What is associated with Abnormal cry?", "seeds": [ "Abnormal cry" ], "gold_answer": "Abnormality of the voice", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07550", "question": "What is associated with Short eyelashes?", "seeds": [ "Short eyelashes" ], "gold_answer": "Abnormal eyelash morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07551", "question": "What is associated with Decreased galactosylation of N-linked protein glycosylation?", "seeds": [ "Decreased galactosylation of N-linked protein glycosylation" ], "gold_answer": "Abnormal protein N-linked glycosylation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07552", "question": "What is associated with Renal atrophy?", "seeds": [ "Renal atrophy" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07553", "question": "What is associated with Abnormality of vitamin K metabolism?", "seeds": [ "Abnormality of vitamin K metabolism" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07554", "question": "What is associated with Genetic transient congenital hypothyroidism?", "seeds": [ "Genetic transient congenital hypothyroidism" ], "gold_answer": "Abnormality of muscle size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07555", "question": "What is associated with Robinow syndrome, autosomal dominant 2?", "seeds": [ "Robinow syndrome, autosomal dominant 2" ], "gold_answer": "Craniofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07556", "question": "What phenotype is associated with Pancreatic agenesis-holoprosencephaly syndrome?", "seeds": [ "Pancreatic agenesis-holoprosencephaly syndrome" ], "gold_answer": "Gastroesophageal reflux", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07557", "question": "What is associated with Sclerosis of the distal phalanx of the 4th toe?", "seeds": [ "Sclerosis of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07558", "question": "What is associated with Prominent superficial veins?", "seeds": [ "Prominent superficial veins" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07559", "question": "What is associated with Osteolytic defects of the phalanges of the 3rd toe?", "seeds": [ "Osteolytic defects of the phalanges of the 3rd toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07560", "question": "What is associated with Latex allergy?", "seeds": [ "Latex allergy" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07561", "question": "What is associated with Posterior blepharitis?", "seeds": [ "Posterior blepharitis" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07562", "question": "What phenotype is associated with Temporal arteritis?", "seeds": [ "Temporal arteritis" ], "gold_answer": "Elevated erythrocyte sedimentation rate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07563", "question": "What is associated with Prolonged prothrombin time?", "seeds": [ "Prolonged prothrombin time" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07564", "question": "What is associated with Abnormal epididymis morphology?", "seeds": [ "Abnormal epididymis morphology" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07565", "question": "What is associated with Renal interstitial eosinophil infiltration?", "seeds": [ "Renal interstitial eosinophil infiltration" ], "gold_answer": "Abnormal renal interstitial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07566", "question": "What is associated with Immunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein?", "seeds": [ "Immunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07567", "question": "What is associated with Deafness, autosomal recessive 59?", "seeds": [ "Deafness, autosomal recessive 59" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07568", "question": "What is associated with Nonspherocytic hemolytic anemia?", "seeds": [ "Nonspherocytic hemolytic anemia" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07569", "question": "What is associated with Reduced T cell CD40 expression?", "seeds": [ "Reduced T cell CD40 expression" ], "gold_answer": "Abnormal lymphocyte surface marker expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07570", "question": "What is associated with Decreased circulating complement factor H concentration?", "seeds": [ "Decreased circulating complement factor H concentration" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07571", "question": "What is associated with Decreased lymph node lymphocyte cytoplasm?", "seeds": [ "Decreased lymph node lymphocyte cytoplasm" ], "gold_answer": "Abnormal lymph-node cellular finding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07572", "question": "What is associated with Coiled sperm flagella?", "seeds": [ "Coiled sperm flagella" ], "gold_answer": "Abnormal male germ cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07573", "question": "What phenotype is associated with Cornelia de Lange syndrome 1?", "seeds": [ "Cornelia de Lange syndrome 1" ], "gold_answer": "Abnormal incisura morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07574", "question": "What is associated with Hooded upper eyelid?", "seeds": [ "Hooded upper eyelid" ], "gold_answer": "Hooded eyelid", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07575", "question": "What is associated with Widened distal phalanges?", "seeds": [ "Widened distal phalanges" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07576", "question": "What is associated with IgG4-related submandibular gland disease?", "seeds": [ "IgG4-related submandibular gland disease" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07577", "question": "What is associated with Positive cutaneous herpes simplex virus nucleic acid test?", "seeds": [ "Positive cutaneous herpes simplex virus nucleic acid test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07578", "question": "What is associated with Lumbar interpedicular narrowing?", "seeds": [ "Lumbar interpedicular narrowing" ], "gold_answer": "Vertebral arch anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07579", "question": "What is associated with Dermal atrophy?", "seeds": [ "Dermal atrophy" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07580", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 30?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 30" ], "gold_answer": "Ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07581", "question": "What is associated with Whistling appearance?", "seeds": [ "Whistling appearance" ], "gold_answer": "Abnormality of mouth shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07582", "question": "What is associated with Abnormal mitochondrial number?", "seeds": [ "Abnormal mitochondrial number" ], "gold_answer": "Abnormality of the mitochondrion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07583", "question": "What is associated with Modic type vertebral endplate changes?", "seeds": [ "Modic type vertebral endplate changes" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07584", "question": "What is associated with NK-cell enteropathy?", "seeds": [ "NK-cell enteropathy" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07585", "question": "What is associated with Fountain syndrome?", "seeds": [ "Fountain syndrome" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07586", "question": "What is associated with Flattened metacarpal heads?", "seeds": [ "Flattened metacarpal heads" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07587", "question": "What is associated with Chronic gastritis?", "seeds": [ "Chronic gastritis" ], "gold_answer": "Abnormal stomach morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07588", "question": "What is associated with Wiedemann-Rautenstrauch syndrome?", "seeds": [ "Wiedemann-Rautenstrauch syndrome" ], "gold_answer": "Abnormality of dental eruption", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07589", "question": "What phenotype is associated with Diffuse palmoplantar keratoderma-acrocyanosis syndrome?", "seeds": [ "Diffuse palmoplantar keratoderma-acrocyanosis syndrome" ], "gold_answer": "Acrocyanosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07590", "question": "What is associated with Alcohol-induced rhabdomyolysis?", "seeds": [ "Alcohol-induced rhabdomyolysis" ], "gold_answer": "Rhabdomyolysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07591", "question": "What is associated with Neonatal epileptic encephalopathy due to glutaminase deficiency?", "seeds": [ "Neonatal epileptic encephalopathy due to glutaminase deficiency" ], "gold_answer": "GLS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_07592", "question": "What is associated with B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome?", "seeds": [ "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07593", "question": "What is associated with Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts?", "seeds": [ "Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07594", "question": "What is associated with Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome?", "seeds": [ "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" ], "gold_answer": "Abnormal circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07595", "question": "What is associated with Abnormality of hair pigmentation?", "seeds": [ "Abnormality of hair pigmentation" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07596", "question": "What is associated with Incisors, rotation of upper central?", "seeds": [ "Incisors, rotation of upper central" ], "gold_answer": "Abnormality of the incisor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07597", "question": "What is associated with Pear-shaped vertebrae?", "seeds": [ "Pear-shaped vertebrae" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07598", "question": "What is associated with Anti-FGFR3 antibody positivity?", "seeds": [ "Anti-FGFR3 antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07599", "question": "What is associated with Thoracic cage flatness?", "seeds": [ "Thoracic cage flatness" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07600", "question": "What is associated with Extrahepatic bile duct fibrosis?", "seeds": [ "Extrahepatic bile duct fibrosis" ], "gold_answer": "Abnormal extrahepatic bile duct morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07601", "question": "What phenotype is associated with Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities?", "seeds": [ "Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities" ], "gold_answer": "Agenesis of maxillary lateral incisor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07602", "question": "What is associated with Acrocapitofemoral dysplasia?", "seeds": [ "Acrocapitofemoral dysplasia" ], "gold_answer": "Abnormal rib morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07603", "question": "What is associated with Sclerosis of the middle phalanx of the 5th finger?", "seeds": [ "Sclerosis of the middle phalanx of the 5th finger" ], "gold_answer": "Abnormal 5th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07604", "question": "What phenotype is associated with Paramolar tubercle of bolk?", "seeds": [ "Paramolar tubercle of bolk" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07605", "question": "What is associated with Excessive eye contact?", "seeds": [ "Excessive eye contact" ], "gold_answer": "Abnormal nonverbal communicative behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07606", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 110?", "seeds": [ "Developmental and epileptic encephalopathy 110" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07607", "question": "What is associated with Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8?", "seeds": [ "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8" ], "gold_answer": "Decreased liver function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07608", "question": "What is associated with Myofiber disarray?", "seeds": [ "Myofiber disarray" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07609", "question": "What phenotype is associated with MGAT2-CDG?", "seeds": [ "MGAT2-CDG" ], "gold_answer": "Barrett esophagus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07610", "question": "What phenotype is associated with Fetal Gaucher disease?", "seeds": [ "Fetal Gaucher disease" ], "gold_answer": "Pericardial effusion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07611", "question": "What is associated with X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome?", "seeds": [ "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome" ], "gold_answer": "Abnormal nasal bridge morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07612", "question": "What is associated with Exostoses-anetodermia-brachydactyly type E syndrome?", "seeds": [ "Exostoses-anetodermia-brachydactyly type E syndrome" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07613", "question": "What is associated with Polychromasia?", "seeds": [ "Polychromasia" ], "gold_answer": "Abnormal reticulocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07614", "question": "What is associated with Isolated congenital laryngeal web?", "seeds": [ "Isolated congenital laryngeal web" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07615", "question": "What is associated with Peritonitis?", "seeds": [ "Peritonitis" ], "gold_answer": "Abnormal peritoneum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07616", "question": "What is associated with Inclusion body myositis?", "seeds": [ "Inclusion body myositis" ], "gold_answer": "Abnormal circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07617", "question": "What phenotype is associated with Rolandic epilepsy-speech dyspraxia syndrome?", "seeds": [ "Rolandic epilepsy-speech dyspraxia syndrome" ], "gold_answer": "Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07618", "question": "What phenotype is associated with SCHIZENCEPHALY?", "seeds": [ "SCHIZENCEPHALY" ], "gold_answer": "Cerebral cortical atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07619", "question": "What is associated with Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration?", "seeds": [ "Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration" ], "gold_answer": "Elevated circulating medium-chain acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07620", "question": "What is associated with Social disinhibition?", "seeds": [ "Social disinhibition" ], "gold_answer": "Abnormal social behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07621", "question": "What is associated with Neonatal cholestatic liver disease?", "seeds": [ "Neonatal cholestatic liver disease" ], "gold_answer": "Cholestatic liver disease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07622", "question": "What is associated with Portal fibrosis?", "seeds": [ "Portal fibrosis" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07623", "question": "What phenotype is associated with Spondyloepiphyseal dysplasia, Kondo-Fu type?", "seeds": [ "Spondyloepiphyseal dysplasia, Kondo-Fu type" ], "gold_answer": "Inguinal hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07624", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07625", "question": "What is associated with Cutis verticis gyrata and mental deficiency?", "seeds": [ "Cutis verticis gyrata and mental deficiency" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07626", "question": "What phenotype is associated with 1q41q42 microdeletion syndrome?", "seeds": [ "1q41q42 microdeletion syndrome" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07627", "question": "What is associated with Incomplete unilateral cleft lip?", "seeds": [ "Incomplete unilateral cleft lip" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07628", "question": "What is associated with Abnormal sensory nerve conduction velocity?", "seeds": [ "Abnormal sensory nerve conduction velocity" ], "gold_answer": "Abnormality of peripheral nerve conduction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07629", "question": "What phenotype is associated with 15q11q13 microduplication syndrome?", "seeds": [ "15q11q13 microduplication syndrome" ], "gold_answer": "Finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07630", "question": "What is associated with Abnormal pinhole visual acuity test?", "seeds": [ "Abnormal pinhole visual acuity test" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07631", "question": "What is associated with Placental infarction?", "seeds": [ "Placental infarction" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07632", "question": "What is associated with Neck pain?", "seeds": [ "Neck pain" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07633", "question": "What is associated with Thoracic hemivertebrae?", "seeds": [ "Thoracic hemivertebrae" ], "gold_answer": "Vertebral segmentation defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07634", "question": "What is associated with Hypodipsia?", "seeds": [ "Hypodipsia" ], "gold_answer": "Abnormal consumption behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07635", "question": "What is associated with Bardet-Biedl syndrome 16?", "seeds": [ "Bardet-Biedl syndrome 16" ], "gold_answer": "Abnormality of the amniotic fluid", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07636", "question": "What is associated with Isovaleric acid, inability to smell?", "seeds": [ "Isovaleric acid, inability to smell" ], "gold_answer": "Abnormality of the sense of smell", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07637", "question": "What phenotype is associated with Bilateral polymicrogyria?", "seeds": [ "Bilateral polymicrogyria" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07638", "question": "What is associated with Dilatation of Inferior mesenteric artery?", "seeds": [ "Dilatation of Inferior mesenteric artery" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07639", "question": "What is associated with Maternal thrombophilia?", "seeds": [ "Maternal thrombophilia" ], "gold_answer": "Pregnancy history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07640", "question": "What is associated with Pigmented nodular adrenocortical disease, primary, 1?", "seeds": [ "Pigmented nodular adrenocortical disease, primary, 1" ], "gold_answer": "Increased body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07641", "question": "What is associated with Abnormal circulating testosterone concentration?", "seeds": [ "Abnormal circulating testosterone concentration" ], "gold_answer": "Abnormal circulating sex hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07642", "question": "What is associated with Abnormal ear morphology?", "seeds": [ "Abnormal ear morphology" ], "gold_answer": "Abnormality of the ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07643", "question": "What is associated with Palate telangiectasia?", "seeds": [ "Palate telangiectasia" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07644", "question": "What is associated with Complete cleft maxillary alveolar ridge?", "seeds": [ "Complete cleft maxillary alveolar ridge" ], "gold_answer": "Cleft maxillary alveolar ridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07645", "question": "What is associated with Sporadic pheochromocytoma/secreting paraganglioma?", "seeds": [ "Sporadic pheochromocytoma/secreting paraganglioma" ], "gold_answer": "SDHB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_07646", "question": "What is associated with Hypoplasia of the femoral head?", "seeds": [ "Hypoplasia of the femoral head" ], "gold_answer": "Abnormal femoral head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07647", "question": "What is associated with Bardet-Biedl syndrome 7?", "seeds": [ "Bardet-Biedl syndrome 7" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07648", "question": "What is associated with Positive Hawkins test?", "seeds": [ "Positive Hawkins test" ], "gold_answer": "Abnormal shoulder physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07649", "question": "What is associated with Immunodeficiency 53?", "seeds": [ "Immunodeficiency 53" ], "gold_answer": "Abnormal neutrophil morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07650", "question": "What phenotype is associated with Autosomal recessive cerebellar ataxia due to STUB1 deficiency?", "seeds": [ "Autosomal recessive cerebellar ataxia due to STUB1 deficiency" ], "gold_answer": "Pancreatitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07651", "question": "What is associated with Atrioventricular septal defect 5?", "seeds": [ "Atrioventricular septal defect 5" ], "gold_answer": "Ventricular septal defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07652", "question": "What is associated with Pseudoautosomal recessive inheritance?", "seeds": [ "Pseudoautosomal recessive inheritance" ], "gold_answer": "Mendelian inheritance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07653", "question": "What is associated with Partial duplication of the distal phalanx of the 5th finger?", "seeds": [ "Partial duplication of the distal phalanx of the 5th finger" ], "gold_answer": "Partial duplication of the distal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07654", "question": "What is associated with Nonarteritic anterior ischemic optic neuropathy?", "seeds": [ "Nonarteritic anterior ischemic optic neuropathy" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07655", "question": "What is associated with Positive Mazzotti test?", "seeds": [ "Positive Mazzotti test" ], "gold_answer": "Positive skin infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07656", "question": "What is associated with Abnormal platelet ATP dense granule secretion?", "seeds": [ "Abnormal platelet ATP dense granule secretion" ], "gold_answer": "Abnormal platelet function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07657", "question": "What is associated with Pseudoarthrosis?", "seeds": [ "Pseudoarthrosis" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07658", "question": "What is associated with Abnormal cortical radial artery intima/media morphology?", "seeds": [ "Abnormal cortical radial artery intima/media morphology" ], "gold_answer": "Abnormal renal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07659", "question": "What is associated with Focal autonomic seizure with pallor/flushing?", "seeds": [ "Focal autonomic seizure with pallor/flushing" ], "gold_answer": "Focal autonomic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07660", "question": "What is associated with Decreased fertility in females?", "seeds": [ "Decreased fertility in females" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07661", "question": "What is associated with Abnormal cutaneous elastic fiber morphology?", "seeds": [ "Abnormal cutaneous elastic fiber morphology" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07662", "question": "What phenotype is associated with Seizures, benign familial infantile, 5?", "seeds": [ "Seizures, benign familial infantile, 5" ], "gold_answer": "Paroxysmal dyskinesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07663", "question": "What is associated with Hypotrichosis with juvenile macular degeneration?", "seeds": [ "Hypotrichosis with juvenile macular degeneration" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07664", "question": "What is associated with Monosomy 7 myelodysplasia and leukemia syndrome 2?", "seeds": [ "Monosomy 7 myelodysplasia and leukemia syndrome 2" ], "gold_answer": "Hematological neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07665", "question": "What is associated with Subcortical localization?", "seeds": [ "Subcortical localization" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07666", "question": "What phenotype is associated with Parkinsonism-dystonia 3, childhood-onset?", "seeds": [ "Parkinsonism-dystonia 3, childhood-onset" ], "gold_answer": "Stooped posture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07667", "question": "What is associated with Hepatic vein thrombosis?", "seeds": [ "Hepatic vein thrombosis" ], "gold_answer": "Abnormal thrombosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07668", "question": "What is associated with Keratoderma, palmoplantar, punctate type IB?", "seeds": [ "Keratoderma, palmoplantar, punctate type IB" ], "gold_answer": "Palmoplantar hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07669", "question": "What is associated with Isolated multiple intestinal atresia?", "seeds": [ "Isolated multiple intestinal atresia" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07670", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 41?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 41" ], "gold_answer": "Long palpebral fissure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07671", "question": "What phenotype is associated with Melanoma, cutaneous malignant, susceptibility to, 3?", "seeds": [ "Melanoma, cutaneous malignant, susceptibility to, 3" ], "gold_answer": "Atypical nevus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07672", "question": "What is associated with Anti-sp100 antibody positivity?", "seeds": [ "Anti-sp100 antibody positivity" ], "gold_answer": "Anti-multiple nuclear dots antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07673", "question": "What is associated with Amniotic constriction ring?", "seeds": [ "Amniotic constriction ring" ], "gold_answer": "Abnormal placental membrane morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07674", "question": "What is associated with Nonopposable triphalangeal thumb?", "seeds": [ "Nonopposable triphalangeal thumb" ], "gold_answer": "Triphalangeal thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07675", "question": "What is associated with Retinitis pigmentosa 55?", "seeds": [ "Retinitis pigmentosa 55" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07676", "question": "What is associated with Absent circulating T cells?", "seeds": [ "Absent circulating T cells" ], "gold_answer": "Abnormal lymphocyte count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07677", "question": "What is associated with PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome?", "seeds": [ "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" ], "gold_answer": "Abnormal morphology of the nasal alae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07678", "question": "What is associated with Panuveitis?", "seeds": [ "Panuveitis" ], "gold_answer": "Inflammatory abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07679", "question": "What is associated with Elevated circulating insulin:C-peptide ratio?", "seeds": [ "Elevated circulating insulin:C-peptide ratio" ], "gold_answer": "Abnormal circulating insulin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07680", "question": "What is associated with Cochlear nerve aplasia?", "seeds": [ "Cochlear nerve aplasia" ], "gold_answer": "Abnormality of the cochlear nerve", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07681", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 63, with macrocephaly?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 63, with macrocephaly" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07682", "question": "What is associated with Laryngeal abductor paralysis-intellectual disability syndrome?", "seeds": [ "Laryngeal abductor paralysis-intellectual disability syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07683", "question": "What is associated with Anterior chamber cells grade 1+?", "seeds": [ "Anterior chamber cells grade 1+" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07684", "question": "What is associated with Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency?", "seeds": [ "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" ], "gold_answer": "DGUOK", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_07685", "question": "What is associated with Interlobular bile duct destruction?", "seeds": [ "Interlobular bile duct destruction" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07686", "question": "What is associated with Abnormality of external jugular vein?", "seeds": [ "Abnormality of external jugular vein" ], "gold_answer": "Abnormal jugular vein morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07687", "question": "What is associated with Placenta percreta?", "seeds": [ "Placenta percreta" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07688", "question": "What is associated with Periventricular laminar heterotopia?", "seeds": [ "Periventricular laminar heterotopia" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07689", "question": "What phenotype is associated with Postencephalitic parkinsonism?", "seeds": [ "Postencephalitic parkinsonism" ], "gold_answer": "Abnormal pyramidal sign", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07690", "question": "What is associated with Abasia?", "seeds": [ "Abasia" ], "gold_answer": "Gait ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07691", "question": "What is associated with Focal impaired awareness autonomic seizure with erection?", "seeds": [ "Focal impaired awareness autonomic seizure with erection" ], "gold_answer": "Focal impaired awareness autonomic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07692", "question": "What is associated with Cutaneous mastocytosis?", "seeds": [ "Cutaneous mastocytosis" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07693", "question": "What is associated with Maxillary lateral incisor microdontia?", "seeds": [ "Maxillary lateral incisor microdontia" ], "gold_answer": "Microdontia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07694", "question": "What is associated with Vertebra plana?", "seeds": [ "Vertebra plana" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07695", "question": "What is associated with Steroid dehydrogenase deficiency-dental anomalies syndrome?", "seeds": [ "Steroid dehydrogenase deficiency-dental anomalies syndrome" ], "gold_answer": "Abnormal number of teeth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07696", "question": "What is associated with Elevated urinary 2,4-dihydroxyglutarate level?", "seeds": [ "Elevated urinary 2,4-dihydroxyglutarate level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07697", "question": "What is associated with Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome?", "seeds": [ "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07698", "question": "What is associated with Reduced circulating reticulated platelet count?", "seeds": [ "Reduced circulating reticulated platelet count" ], "gold_answer": "Abnormal platelet count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07699", "question": "What is associated with Abnormal circulating ethanolamine concentration?", "seeds": [ "Abnormal circulating ethanolamine concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07700", "question": "What is associated with Adamantinoma of long bones?", "seeds": [ "Adamantinoma of long bones" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07701", "question": "What is associated with Pigmented nodular adrenocortical disease, primary, 2?", "seeds": [ "Pigmented nodular adrenocortical disease, primary, 2" ], "gold_answer": "Increased blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07702", "question": "What is associated with Irreversible airflow obstruction?", "seeds": [ "Irreversible airflow obstruction" ], "gold_answer": "Airway obstruction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07703", "question": "What is associated with Blepharophimosis-ptosis-epicanthus inversus syndrome?", "seeds": [ "Blepharophimosis-ptosis-epicanthus inversus syndrome" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07704", "question": "What is associated with Unilateral absence of pectoralis major muscle?", "seeds": [ "Unilateral absence of pectoralis major muscle" ], "gold_answer": "Abnormality of the musculature of the thorax", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07705", "question": "What is associated with Subcutaneous ossification?", "seeds": [ "Subcutaneous ossification" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07706", "question": "What is associated with Rib segmentation abnormalities?", "seeds": [ "Rib segmentation abnormalities" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07707", "question": "What is associated with Empty sella turcica?", "seeds": [ "Empty sella turcica" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07708", "question": "What is associated with Kaposiform hemangioendothelioma?", "seeds": [ "Kaposiform hemangioendothelioma" ], "gold_answer": "Abnormality of skin adnexa physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07709", "question": "What is associated with Anti-Ro/SS-A antibody positivity?", "seeds": [ "Anti-Ro/SS-A antibody positivity" ], "gold_answer": "Extractable nuclear antigen positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07710", "question": "What is associated with Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation?", "seeds": [ "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation" ], "gold_answer": "KIF5A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_07711", "question": "What is associated with Lactescent serum?", "seeds": [ "Lactescent serum" ], "gold_answer": "Hyperlipidemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07712", "question": "What is associated with Profound global developmental delay?", "seeds": [ "Profound global developmental delay" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07713", "question": "What is associated with Vaginal hematocele?", "seeds": [ "Vaginal hematocele" ], "gold_answer": "Abnormal scrotum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07714", "question": "What is associated with Autosomal recessive spastic paraplegia type 76?", "seeds": [ "Autosomal recessive spastic paraplegia type 76" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07715", "question": "What phenotype is associated with Conotruncal heart malformations?", "seeds": [ "Conotruncal heart malformations" ], "gold_answer": "Stroke", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07716", "question": "What phenotype is associated with Neurodevelopmental disorder with microcephaly, ataxia, and seizures?", "seeds": [ "Neurodevelopmental disorder with microcephaly, ataxia, and seizures" ], "gold_answer": "Moderate intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07717", "question": "What is associated with Wide nasal bridge?", "seeds": [ "Wide nasal bridge" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07718", "question": "What is associated with Digital extensor muscle aplasia-polyneuropathy?", "seeds": [ "Digital extensor muscle aplasia-polyneuropathy" ], "gold_answer": "Interphalangeal joint contracture of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07719", "question": "What is associated with Cardiac amyloidosis?", "seeds": [ "Cardiac amyloidosis" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07720", "question": "What is associated with Abnormal scapula morphology?", "seeds": [ "Abnormal scapula morphology" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07721", "question": "What is associated with Spermatogonial maturation arrest?", "seeds": [ "Spermatogonial maturation arrest" ], "gold_answer": "Spermatogenesis maturation arrest", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07722", "question": "What is associated with Periorbital dermoid cyst?", "seeds": [ "Periorbital dermoid cyst" ], "gold_answer": "Orbital cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07723", "question": "What is associated with Aromatase deficiency?", "seeds": [ "Aromatase deficiency" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07724", "question": "What is associated with Generalized neonatal hypotonia?", "seeds": [ "Generalized neonatal hypotonia" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07725", "question": "What is associated with Combined cystic and ground-glass pattern on pulmonary HRCT?", "seeds": [ "Combined cystic and ground-glass pattern on pulmonary HRCT" ], "gold_answer": "Pulmonary opacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07726", "question": "What is associated with Lateral displacement of patellae?", "seeds": [ "Lateral displacement of patellae" ], "gold_answer": "Abnormal patella morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07727", "question": "What is associated with Aplasia/Hypoplasia of the 2nd finger?", "seeds": [ "Aplasia/Hypoplasia of the 2nd finger" ], "gold_answer": "Aplasia/hypoplasia involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07728", "question": "What is associated with Abnormality of the distal fibular epiphysis?", "seeds": [ "Abnormality of the distal fibular epiphysis" ], "gold_answer": "Abnormal lower limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07729", "question": "What is associated with Aplasia of the pyramids of the medulla oblongata?", "seeds": [ "Aplasia of the pyramids of the medulla oblongata" ], "gold_answer": "Abnormal hindbrain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07730", "question": "What phenotype is associated with Congenital heart defects, multiple types, 8, with or without heterotaxy?", "seeds": [ "Congenital heart defects, multiple types, 8, with or without heterotaxy" ], "gold_answer": "Left superior vena cava draining directly to the left atrium", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07731", "question": "What phenotype is associated with Split-Hand/foot malformation 2?", "seeds": [ "Split-Hand/foot malformation 2" ], "gold_answer": "Split hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07732", "question": "What is associated with Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8?", "seeds": [ "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8" ], "gold_answer": "Severe infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07733", "question": "What is associated with Spermatogenic failure 8?", "seeds": [ "Spermatogenic failure 8" ], "gold_answer": "Abnormal spermatogenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07734", "question": "What is associated with Abnormality of skin physiology?", "seeds": [ "Abnormality of skin physiology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07735", "question": "What is associated with Absent smooth pursuit?", "seeds": [ "Absent smooth pursuit" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07736", "question": "What is associated with Calcaneal epiphyseal stippling?", "seeds": [ "Calcaneal epiphyseal stippling" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07737", "question": "What is associated with Lipoyltransferase 1 deficiency?", "seeds": [ "Lipoyltransferase 1 deficiency" ], "gold_answer": "Tetraplegia/tetraparesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07738", "question": "What is associated with Sclerosis of 3rd finger phalanx?", "seeds": [ "Sclerosis of 3rd finger phalanx" ], "gold_answer": "Abnormal 3rd finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07739", "question": "What is associated with Focal impaired awareness emotional seizure with anger?", "seeds": [ "Focal impaired awareness emotional seizure with anger" ], "gold_answer": "Focal impaired awareness non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07740", "question": "What is associated with Abnormal adrenal morphology?", "seeds": [ "Abnormal adrenal morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07741", "question": "What is associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome 4?", "seeds": [ "Megacystis-microcolon-intestinal hypoperistalsis syndrome 4" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07742", "question": "What is associated with Decreased urine urobilinogen?", "seeds": [ "Decreased urine urobilinogen" ], "gold_answer": "Abnormal urinary organic compound level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07743", "question": "What is associated with Hypouricemia, renal, 2?", "seeds": [ "Hypouricemia, renal, 2" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07744", "question": "What phenotype is associated with Acetazolamide-responsive myotonia?", "seeds": [ "Acetazolamide-responsive myotonia" ], "gold_answer": "Hypothyroidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07745", "question": "What is associated with Ceroid lipofuscinosis, neuronal, 6B (Kufs type)?", "seeds": [ "Ceroid lipofuscinosis, neuronal, 6B (Kufs type)" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07746", "question": "What is associated with Increased neutrophil mitochondria?", "seeds": [ "Increased neutrophil mitochondria" ], "gold_answer": "Abnormality of neutrophils", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07747", "question": "What is associated with Supravalvular aortic stenosis?", "seeds": [ "Supravalvular aortic stenosis" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07748", "question": "What is associated with Low tissue non-specific alkaline phosphatase?", "seeds": [ "Low tissue non-specific alkaline phosphatase" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07749", "question": "What is associated with Streak gonad?", "seeds": [ "Streak gonad" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07750", "question": "What is associated with Acute bronchitis?", "seeds": [ "Acute bronchitis" ], "gold_answer": "Bronchitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07751", "question": "What is associated with Quadriceps muscle weakness?", "seeds": [ "Quadriceps muscle weakness" ], "gold_answer": "Proximal muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07752", "question": "What is associated with Spina bifida occulta?", "seeds": [ "Spina bifida occulta" ], "gold_answer": "Spinal dysraphism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07753", "question": "What is associated with Chronic beryllium disease?", "seeds": [ "Chronic beryllium disease" ], "gold_answer": "Abnormal pharynx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07754", "question": "What is associated with Lunotriquetral ligament tear?", "seeds": [ "Lunotriquetral ligament tear" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07755", "question": "What is associated with Arcuate vein medial/intimal liquefactive necrosis?", "seeds": [ "Arcuate vein medial/intimal liquefactive necrosis" ], "gold_answer": "Abnormal arcuate vein morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07756", "question": "What is associated with Macroorchidism, postpubertal?", "seeds": [ "Macroorchidism, postpubertal" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07757", "question": "What is associated with Elevated osmolality gap?", "seeds": [ "Elevated osmolality gap" ], "gold_answer": "Abnormal serum osmolality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07758", "question": "What is associated with Ambiguous genitalia?", "seeds": [ "Ambiguous genitalia" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07759", "question": "What is associated with Abnormal morphology of the limbic system?", "seeds": [ "Abnormal morphology of the limbic system" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07760", "question": "What is associated with Adams-Oliver syndrome 4?", "seeds": [ "Adams-Oliver syndrome 4" ], "gold_answer": "Aplasia/Hypoplasia of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07761", "question": "What phenotype is associated with Immunodeficiency due to defect in mapbp-interacting protein?", "seeds": [ "Immunodeficiency due to defect in mapbp-interacting protein" ], "gold_answer": "Decreased circulating total IgM", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07762", "question": "What is associated with Ornithine transcarbamylase deficiency, hyperammonemia due to?", "seeds": [ "Ornithine transcarbamylase deficiency, hyperammonemia due to" ], "gold_answer": "Abnormal emotional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07763", "question": "What is associated with Deafness, autosomal dominant 88?", "seeds": [ "Deafness, autosomal dominant 88" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07764", "question": "What is associated with Coiled sperm flagella?", "seeds": [ "Coiled sperm flagella" ], "gold_answer": "Abnormal male germ cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07765", "question": "What phenotype is associated with Short stature, Dauber-Argente type?", "seeds": [ "Short stature, Dauber-Argente type" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07766", "question": "What is associated with Joubert syndrome 3?", "seeds": [ "Joubert syndrome 3" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07767", "question": "What phenotype is associated with Pelvis-shoulder dysplasia?", "seeds": [ "Pelvis-shoulder dysplasia" ], "gold_answer": "Spastic diplegia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07768", "question": "What is associated with Accessory navicular bone?", "seeds": [ "Accessory navicular bone" ], "gold_answer": "Abnormality of the tarsal bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07769", "question": "What is associated with Sneeze?", "seeds": [ "Sneeze" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07770", "question": "What is associated with Anti-factor IX antibody positivity?", "seeds": [ "Anti-factor IX antibody positivity" ], "gold_answer": "Anti-coagulation factor antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07771", "question": "What is associated with Distal femoral bowing?", "seeds": [ "Distal femoral bowing" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07772", "question": "What is associated with Leukoencephalopathy with calcifications and cysts?", "seeds": [ "Leukoencephalopathy with calcifications and cysts" ], "gold_answer": "Intracranial hemorrhage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07773", "question": "What is associated with Peroxisome biogenesis disorder 1A (Zellweger)?", "seeds": [ "Peroxisome biogenesis disorder 1A (Zellweger)" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07774", "question": "What is associated with 2-4 finger cutaneous syndactyly?", "seeds": [ "2-4 finger cutaneous syndactyly" ], "gold_answer": "Cutaneous finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07775", "question": "What is associated with Excessive cerumen?", "seeds": [ "Excessive cerumen" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07776", "question": "What is associated with Early onset of sexual maturation?", "seeds": [ "Early onset of sexual maturation" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07777", "question": "What is associated with Elevated urinary isovaleric acid level?", "seeds": [ "Elevated urinary isovaleric acid level" ], "gold_answer": "Abnormal urine pH", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07778", "question": "What is associated with Secondary Caesarian section?", "seeds": [ "Secondary Caesarian section" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07779", "question": "What is associated with Immunodeficiency 25?", "seeds": [ "Immunodeficiency 25" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07780", "question": "What phenotype is associated with Shashi-Pena syndrome?", "seeds": [ "Shashi-Pena syndrome" ], "gold_answer": "Mild fetal ventriculomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07781", "question": "What is associated with Pulmonary nodular lymphoid hyperplasia?", "seeds": [ "Pulmonary nodular lymphoid hyperplasia" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07782", "question": "What is associated with Paralysis?", "seeds": [ "Paralysis" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07783", "question": "What is associated with Atrial septal defect, ostium secundum type?", "seeds": [ "Atrial septal defect, ostium secundum type" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07784", "question": "What is associated with Abnormal P50/N95 ratio of pattern electroretinogram?", "seeds": [ "Abnormal P50/N95 ratio of pattern electroretinogram" ], "gold_answer": "Abnormal pattern electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07785", "question": "What is associated with Vascular calcification?", "seeds": [ "Vascular calcification" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07786", "question": "What phenotype is associated with Patterson-Stevenson-Fontaine syndrome?", "seeds": [ "Patterson-Stevenson-Fontaine syndrome" ], "gold_answer": "Dental crowding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07787", "question": "What is associated with Cone dystrophy 4?", "seeds": [ "Cone dystrophy 4" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07788", "question": "What is associated with Polydactyly affecting the 2nd finger?", "seeds": [ "Polydactyly affecting the 2nd finger" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07789", "question": "What is associated with Neonatal inspiratory stridor?", "seeds": [ "Neonatal inspiratory stridor" ], "gold_answer": "Stridor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07790", "question": "What is associated with Neologism?", "seeds": [ "Neologism" ], "gold_answer": "Abnormal semantics", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07791", "question": "What phenotype is associated with Pseudohypoaldosteronism, type IID?", "seeds": [ "Pseudohypoaldosteronism, type IID" ], "gold_answer": "Pseudohypoaldosteronism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07792", "question": "What is associated with Familial dilated cardiomyopathy with conduction defect due to LMNA mutation?", "seeds": [ "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07793", "question": "What phenotype is associated with Aicardi-Goutières syndrome?", "seeds": [ "Aicardi-Goutières syndrome" ], "gold_answer": "Prolonged neonatal jaundice", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07794", "question": "What is associated with Left ventricular dilatation?", "seeds": [ "Left ventricular dilatation" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07795", "question": "What is associated with Behavioral variant of frontotemporal dementia?", "seeds": [ "Behavioral variant of frontotemporal dementia" ], "gold_answer": "VCP", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_07796", "question": "What is associated with Abnormality of palatopharyngeus muscle?", "seeds": [ "Abnormality of palatopharyngeus muscle" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07797", "question": "What is associated with Elevated serum 11-deoxycortisol?", "seeds": [ "Elevated serum 11-deoxycortisol" ], "gold_answer": "Abnormality of adrenal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07798", "question": "What is associated with Prominent antitragus?", "seeds": [ "Prominent antitragus" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07799", "question": "What is associated with Combined hamartoma of the retina and retinal pigment epithelium?", "seeds": [ "Combined hamartoma of the retina and retinal pigment epithelium" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07800", "question": "What is associated with Duplication of phalanx of toe?", "seeds": [ "Duplication of phalanx of toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07801", "question": "What is associated with Abnormal vena cava morphology?", "seeds": [ "Abnormal vena cava morphology" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07802", "question": "What phenotype is associated with Ohdo syndrome, X-linked?", "seeds": [ "Ohdo syndrome, X-linked" ], "gold_answer": "Posteriorly rotated ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07803", "question": "What is associated with Increased total T cell count?", "seeds": [ "Increased total T cell count" ], "gold_answer": "Abnormal total T cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07804", "question": "What is associated with Ileal adenocarcinoma?", "seeds": [ "Ileal adenocarcinoma" ], "gold_answer": "Gastrointestinal carcinoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07805", "question": "What is associated with Multiple joint contractures?", "seeds": [ "Multiple joint contractures" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07806", "question": "What is associated with Abnormal heart valve physiology?", "seeds": [ "Abnormal heart valve physiology" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07807", "question": "What is associated with Hypoplastic lacrimal duct?", "seeds": [ "Hypoplastic lacrimal duct" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07808", "question": "What is associated with Cyclic neutropenia?", "seeds": [ "Cyclic neutropenia" ], "gold_answer": "Inflammation of the large intestine", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07809", "question": "What is associated with Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome?", "seeds": [ "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07810", "question": "What phenotype is associated with Deafness, autosomal recessive 115?", "seeds": [ "Deafness, autosomal recessive 115" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07811", "question": "What is associated with Juvenile nephropathic cystinosis?", "seeds": [ "Juvenile nephropathic cystinosis" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07812", "question": "What is associated with Fibrosis, neurodegeneration, and cerebral angiomatosis?", "seeds": [ "Fibrosis, neurodegeneration, and cerebral angiomatosis" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07813", "question": "What phenotype is associated with Zollinger-Ellison syndrome?", "seeds": [ "Zollinger-Ellison syndrome" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07814", "question": "What is associated with Pili canaliculi?", "seeds": [ "Pili canaliculi" ], "gold_answer": "Abnormal hairshaft morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07815", "question": "What phenotype is associated with Immunodeficiency 11B with atopic dermatitis?", "seeds": [ "Immunodeficiency 11B with atopic dermatitis" ], "gold_answer": "Bronchiectasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07816", "question": "What phenotype is associated with Aspergillosis?", "seeds": [ "Aspergillosis" ], "gold_answer": "Abnormality of long bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07817", "question": "What is associated with Cerulean cataract?", "seeds": [ "Cerulean cataract" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07818", "question": "What is associated with Tooth malformation?", "seeds": [ "Tooth malformation" ], "gold_answer": "Abnormal number of teeth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07819", "question": "What phenotype is associated with Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia?", "seeds": [ "Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07820", "question": "What is associated with Elevated urinary thymine level?", "seeds": [ "Elevated urinary thymine level" ], "gold_answer": "Abnormal urinary pyrimidine level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07821", "question": "What is associated with Fractured hand bones?", "seeds": [ "Fractured hand bones" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07822", "question": "What is associated with Retropharyngeal hemangioma?", "seeds": [ "Retropharyngeal hemangioma" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07823", "question": "What is associated with EEG with generalized slow activity grade 3?", "seeds": [ "EEG with generalized slow activity grade 3" ], "gold_answer": "EEG with generalized slow activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07824", "question": "What phenotype is associated with Phosphohydroxylysinuria?", "seeds": [ "Phosphohydroxylysinuria" ], "gold_answer": "Elevated urinary phosphohydroxylysine level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07825", "question": "What is associated with Silver-Russell syndrome due to 11p15 microduplication?", "seeds": [ "Silver-Russell syndrome due to 11p15 microduplication" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07826", "question": "What phenotype is associated with Crigler-Najjar syndrome type 1?", "seeds": [ "Crigler-Najjar syndrome type 1" ], "gold_answer": "Memory impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07827", "question": "What is associated with Ainhum?", "seeds": [ "Ainhum" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07828", "question": "What phenotype is associated with Familial focal epilepsy with variable foci?", "seeds": [ "Familial focal epilepsy with variable foci" ], "gold_answer": "Flushing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07829", "question": "What phenotype is associated with Orofaciodigital syndrome VI?", "seeds": [ "Orofaciodigital syndrome VI" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07830", "question": "What is associated with Proliferating trichilemmal cyst?", "seeds": [ "Proliferating trichilemmal cyst" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07831", "question": "What is associated with Abnormal horizontal rectus muscle physiology?", "seeds": [ "Abnormal horizontal rectus muscle physiology" ], "gold_answer": "Abnormal extraocular muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07832", "question": "What is associated with Familial Alzheimer-like prion disease?", "seeds": [ "Familial Alzheimer-like prion disease" ], "gold_answer": "Short term memory impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07833", "question": "What is associated with Reflex tearing?", "seeds": [ "Reflex tearing" ], "gold_answer": "Lacrimation abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07834", "question": "What is associated with Cryptogenic multifocal ulcerous stenosing enteritis?", "seeds": [ "Cryptogenic multifocal ulcerous stenosing enteritis" ], "gold_answer": "PLA2G4A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_07835", "question": "What is associated with Elevated brain creatine level by MRS?", "seeds": [ "Elevated brain creatine level by MRS" ], "gold_answer": "Brain imaging abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07836", "question": "What is associated with Otosclerosis 4?", "seeds": [ "Otosclerosis 4" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07837", "question": "What is associated with Aplasia/Hypoplasia of the cochlea?", "seeds": [ "Aplasia/Hypoplasia of the cochlea" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07838", "question": "What is associated with Narrow nasal ridge?", "seeds": [ "Narrow nasal ridge" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07839", "question": "What is associated with Unaided visual acuity 0.7 LogMAR?", "seeds": [ "Unaided visual acuity 0.7 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07840", "question": "What is associated with Disproportionate tall stature?", "seeds": [ "Disproportionate tall stature" ], "gold_answer": "Tall stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07841", "question": "What phenotype is associated with Herpes simplex virus encephalitis?", "seeds": [ "Herpes simplex virus encephalitis" ], "gold_answer": "Alcoholism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07842", "question": "What is associated with Truncus arteriosus?", "seeds": [ "Truncus arteriosus" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07843", "question": "What is associated with Abnormality of primary teeth?", "seeds": [ "Abnormality of primary teeth" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07844", "question": "What is associated with Abnormal ossification of the sacrum?", "seeds": [ "Abnormal ossification of the sacrum" ], "gold_answer": "Abnormal sacrum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07845", "question": "What is associated with Triose phosphate-isomerase deficiency?", "seeds": [ "Triose phosphate-isomerase deficiency" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07846", "question": "What is associated with Abnormal metaphyseal vascular invasion?", "seeds": [ "Abnormal metaphyseal vascular invasion" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07847", "question": "What phenotype is associated with Coronary artery dissection, spontaneous?", "seeds": [ "Coronary artery dissection, spontaneous" ], "gold_answer": "Cystic medial necrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07848", "question": "What is associated with Trichothiodystrophy 1, photosensitive?", "seeds": [ "Trichothiodystrophy 1, photosensitive" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07849", "question": "What is associated with Verrucous papule?", "seeds": [ "Verrucous papule" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07850", "question": "What is associated with Increased globoside Gb4 level?", "seeds": [ "Increased globoside Gb4 level" ], "gold_answer": "Abnormal glycosphingolipid metabolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07851", "question": "What is associated with Hydropic placenta?", "seeds": [ "Hydropic placenta" ], "gold_answer": "Abnormal placental size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07852", "question": "What is associated with Bacteriuria?", "seeds": [ "Bacteriuria" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07853", "question": "What phenotype is associated with Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development?", "seeds": [ "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development" ], "gold_answer": "Simplified gyral pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07854", "question": "What is associated with Decreased fecal pH?", "seeds": [ "Decreased fecal pH" ], "gold_answer": "Abnormal stool composition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07855", "question": "What is associated with Focal sensory seizure with somatosensory features?", "seeds": [ "Focal sensory seizure with somatosensory features" ], "gold_answer": "Focal sensory seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07856", "question": "What is associated with Spastic ataxia?", "seeds": [ "Spastic ataxia" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07857", "question": "What is associated with Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism?", "seeds": [ "Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07858", "question": "What is associated with Intraepidermal microabscess formation?", "seeds": [ "Intraepidermal microabscess formation" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07859", "question": "What is associated with Hypoplastic pubic ramus?", "seeds": [ "Hypoplastic pubic ramus" ], "gold_answer": "Aplasia/Hypoplasia involving the pelvis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07860", "question": "What is associated with Delayed femoral head ossification?", "seeds": [ "Delayed femoral head ossification" ], "gold_answer": "Abnormal enchondral ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07861", "question": "What is associated with Partial duplication of the distal phalanx of the 2nd finger?", "seeds": [ "Partial duplication of the distal phalanx of the 2nd finger" ], "gold_answer": "Partial duplication of the phalanges of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07862", "question": "What is associated with Abnormal TSH response to thyrotrophin-releasing hormone stimulation test?", "seeds": [ "Abnormal TSH response to thyrotrophin-releasing hormone stimulation test" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07863", "question": "What is associated with Anti-ganglioside antibody positivity?", "seeds": [ "Anti-ganglioside antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07864", "question": "What is associated with Familial calcium pyrophosphate deposition?", "seeds": [ "Familial calcium pyrophosphate deposition" ], "gold_answer": "Abnormality of temperature regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07865", "question": "What is associated with Tongue, pigmented fungiform papillae of?", "seeds": [ "Tongue, pigmented fungiform papillae of" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07866", "question": "What is associated with Abnormal pubic bone morphology?", "seeds": [ "Abnormal pubic bone morphology" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07867", "question": "What phenotype is associated with D-2-hydroxyglutaric aciduria 2?", "seeds": [ "D-2-hydroxyglutaric aciduria 2" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07868", "question": "What is associated with Nephronophthisis?", "seeds": [ "Nephronophthisis" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07869", "question": "What is associated with Burkitt lymphoma?", "seeds": [ "Burkitt lymphoma" ], "gold_answer": "Non-Hodgkin lymphoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07870", "question": "What phenotype is associated with Lipodystrophy, congenital generalized, type 4?", "seeds": [ "Lipodystrophy, congenital generalized, type 4" ], "gold_answer": "Flexion contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07871", "question": "What is associated with Cutis laxa, autosomal recessive, type ID?", "seeds": [ "Cutis laxa, autosomal recessive, type ID" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07872", "question": "What is associated with Psychotic episodes?", "seeds": [ "Psychotic episodes" ], "gold_answer": "Abnormal psychotic pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07873", "question": "What is associated with Warty dyskeratoma?", "seeds": [ "Warty dyskeratoma" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07874", "question": "What is associated with Bowdler spurs?", "seeds": [ "Bowdler spurs" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07875", "question": "What is associated with Irregular epiphyses?", "seeds": [ "Irregular epiphyses" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07876", "question": "What is associated with Trigger thumb?", "seeds": [ "Trigger thumb" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07877", "question": "What is associated with Abnormal platelet dense granule secretion?", "seeds": [ "Abnormal platelet dense granule secretion" ], "gold_answer": "Abnormality of thrombocytes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07878", "question": "What is associated with Arthrogryposis multiplex congenita 7, X-linked?", "seeds": [ "Arthrogryposis multiplex congenita 7, X-linked" ], "gold_answer": "Craniofacial cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07879", "question": "What is associated with Elevated circulating glutaric acid concentration?", "seeds": [ "Elevated circulating glutaric acid concentration" ], "gold_answer": "Abnormal circulating dicarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07880", "question": "What is associated with Ulnar deviation of the 2nd finger?", "seeds": [ "Ulnar deviation of the 2nd finger" ], "gold_answer": "Ulnar deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07881", "question": "What phenotype is associated with Localized junctional epidermolysis bullosa?", "seeds": [ "Localized junctional epidermolysis bullosa" ], "gold_answer": "Acral blistering", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07882", "question": "What is associated with Impaired cerebroside sulfate hydrolysis?", "seeds": [ "Impaired cerebroside sulfate hydrolysis" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07883", "question": "What is associated with Abnormal response to insulin tolerance test?", "seeds": [ "Abnormal response to insulin tolerance test" ], "gold_answer": "Abnormal endocrine physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07884", "question": "What is associated with Positive direct antiglobulin test?", "seeds": [ "Positive direct antiglobulin test" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07885", "question": "What phenotype is associated with Malignant peritoneal mesothelioma?", "seeds": [ "Malignant peritoneal mesothelioma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07886", "question": "What phenotype is associated with Warburg micro syndrome 3?", "seeds": [ "Warburg micro syndrome 3" ], "gold_answer": "Hypoplastic labia minora", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07887", "question": "What is associated with Immunodeficiency 62?", "seeds": [ "Immunodeficiency 62" ], "gold_answer": "Abnormal total B cell count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07888", "question": "What is associated with Malignant hyperthermia, susceptibility to, 2?", "seeds": [ "Malignant hyperthermia, susceptibility to, 2" ], "gold_answer": "Abnormal circulating potassium concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07889", "question": "What is associated with Hand pain?", "seeds": [ "Hand pain" ], "gold_answer": "Upper limb pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07890", "question": "What is associated with Deafness, autosomal recessive 97?", "seeds": [ "Deafness, autosomal recessive 97" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07891", "question": "What is associated with Abnormal bladder morphology?", "seeds": [ "Abnormal bladder morphology" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07892", "question": "What phenotype is associated with Epithelial recurrent erosion dystrophy?", "seeds": [ "Epithelial recurrent erosion dystrophy" ], "gold_answer": "Recurrent corneal erosions", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07893", "question": "What is associated with Xeroderma pigmentosum, variant type?", "seeds": [ "Xeroderma pigmentosum, variant type" ], "gold_answer": "Melanoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07894", "question": "What is associated with Triangular shaped middle phalanx of the 2nd toe?", "seeds": [ "Triangular shaped middle phalanx of the 2nd toe" ], "gold_answer": "Abnormal 2nd toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07895", "question": "What is associated with Reduced antral follicle count?", "seeds": [ "Reduced antral follicle count" ], "gold_answer": "Abnormal female reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07896", "question": "What is associated with Recurrent lower respiratory tract infections?", "seeds": [ "Recurrent lower respiratory tract infections" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07897", "question": "What is associated with Positive stool giardia antigen?", "seeds": [ "Positive stool giardia antigen" ], "gold_answer": "Abnormal stool composition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07898", "question": "What is associated with Hypoplasia of the corpus callosum?", "seeds": [ "Hypoplasia of the corpus callosum" ], "gold_answer": "Thin corpus callosum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07899", "question": "What is associated with Abnormality of the temporomandibular joint?", "seeds": [ "Abnormality of the temporomandibular joint" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07900", "question": "What phenotype is associated with Parkinsonism-dystonia 3, childhood-onset?", "seeds": [ "Parkinsonism-dystonia 3, childhood-onset" ], "gold_answer": "Global brain atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07901", "question": "What is associated with Broad radius?", "seeds": [ "Broad radius" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07902", "question": "What is associated with Accelerated atherosclerosis?", "seeds": [ "Accelerated atherosclerosis" ], "gold_answer": "Arteriosclerosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07903", "question": "What phenotype is associated with Immunodeficiency 112?", "seeds": [ "Immunodeficiency 112" ], "gold_answer": "Hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07904", "question": "What is associated with Portal hypertension?", "seeds": [ "Portal hypertension" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07905", "question": "What phenotype is associated with Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity?", "seeds": [ "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" ], "gold_answer": "Dysarthria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07906", "question": "What is associated with Drowsiness?", "seeds": [ "Drowsiness" ], "gold_answer": "Reduced consciousness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07907", "question": "What is associated with Olivopontocerebellar hypoplasia?", "seeds": [ "Olivopontocerebellar hypoplasia" ], "gold_answer": "Cerebellar hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07908", "question": "What is associated with Spontaneous periodic hypothermia?", "seeds": [ "Spontaneous periodic hypothermia" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07909", "question": "What is associated with Palmar hyperkeratosis?", "seeds": [ "Palmar hyperkeratosis" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07910", "question": "What is associated with Late-onset distal muscle weakness?", "seeds": [ "Late-onset distal muscle weakness" ], "gold_answer": "Distal muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07911", "question": "What is associated with Cerebellar dysfunction with variable cognitive and behavioral abnormalities?", "seeds": [ "Cerebellar dysfunction with variable cognitive and behavioral abnormalities" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07912", "question": "What is associated with Hamartoma of tongue?", "seeds": [ "Hamartoma of tongue" ], "gold_answer": "Neoplasm of the tongue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07913", "question": "What is associated with GROWTH CONTROL, Y-CHROMOSOME INFLUENCED?", "seeds": [ "GROWTH CONTROL, Y-CHROMOSOME INFLUENCED" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07914", "question": "What is associated with Olfactory lobe agenesis?", "seeds": [ "Olfactory lobe agenesis" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07915", "question": "What is associated with Mast syndrome?", "seeds": [ "Mast syndrome" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07916", "question": "What is associated with Curry-Jones syndrome?", "seeds": [ "Curry-Jones syndrome" ], "gold_answer": "AKT3", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_07917", "question": "What is associated with Diabetes insipidus, Neurohypophyseal type?", "seeds": [ "Diabetes insipidus, Neurohypophyseal type" ], "gold_answer": "Abnormality of globe location", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07918", "question": "What is associated with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3?", "seeds": [ "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07919", "question": "What is associated with Ectodermal dysplasia 7, Hair/nail type?", "seeds": [ "Ectodermal dysplasia 7, Hair/nail type" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07920", "question": "What is associated with Renal hamartoma?", "seeds": [ "Renal hamartoma" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07921", "question": "What is associated with Abnormality of the epiphysis of the proximal phalanx of the 5th toe?", "seeds": [ "Abnormality of the epiphysis of the proximal phalanx of the 5th toe" ], "gold_answer": "Abnormality of the epiphyses of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07922", "question": "What is associated with Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection?", "seeds": [ "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection" ], "gold_answer": "IFNAR2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_07923", "question": "What is associated with Cortical myoclonus?", "seeds": [ "Cortical myoclonus" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07924", "question": "What phenotype is associated with Lymphedema-distichiasis syndrome?", "seeds": [ "Lymphedema-distichiasis syndrome" ], "gold_answer": "Diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07925", "question": "What is associated with 1-minute APGAR score of 3?", "seeds": [ "1-minute APGAR score of 3" ], "gold_answer": "Low APGAR score", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07926", "question": "What is associated with Maculopapular exanthema?", "seeds": [ "Maculopapular exanthema" ], "gold_answer": "Exanthem", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07927", "question": "What is associated with Sick sinus syndrome 2?", "seeds": [ "Sick sinus syndrome 2" ], "gold_answer": "Supraventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07928", "question": "What is associated with Pilomatrixoma?", "seeds": [ "Pilomatrixoma" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07929", "question": "What is associated with Rhabdomyosarcoma 1?", "seeds": [ "Rhabdomyosarcoma 1" ], "gold_answer": "NF1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_07930", "question": "What is associated with Renal arteriole endoarterial hypercellularity?", "seeds": [ "Renal arteriole endoarterial hypercellularity" ], "gold_answer": "Abnormal renal arteriole endothelium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07931", "question": "What is associated with Increased sialylated N-glycan level?", "seeds": [ "Increased sialylated N-glycan level" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07932", "question": "What is associated with Solitary congenital hypertrophy of retinal pigment epithelium?", "seeds": [ "Solitary congenital hypertrophy of retinal pigment epithelium" ], "gold_answer": "Congenital hypertrophy of retinal pigment epithelium", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07933", "question": "What is associated with Esophagitis, eosinophilic, 2?", "seeds": [ "Esophagitis, eosinophilic, 2" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07934", "question": "What phenotype is associated with Cerebroretinal microangiopathy with calcifications and cysts 3?", "seeds": [ "Cerebroretinal microangiopathy with calcifications and cysts 3" ], "gold_answer": "Gastrointestinal hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07935", "question": "What is associated with Pontocerebellar hypoplasia, type 9?", "seeds": [ "Pontocerebellar hypoplasia, type 9" ], "gold_answer": "Slanting of the palpebral fissure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07936", "question": "What is associated with Hypoplasia of the iris?", "seeds": [ "Hypoplasia of the iris" ], "gold_answer": "Abnormal uvea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07937", "question": "What is associated with Coronary cameral fistula?", "seeds": [ "Coronary cameral fistula" ], "gold_answer": "Coronary artery fistula", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07938", "question": "What phenotype is associated with Chronic inflammatory demyelinating polyneuropathy?", "seeds": [ "Chronic inflammatory demyelinating polyneuropathy" ], "gold_answer": "Abnormal nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07939", "question": "What is associated with Retinal peau d'orange?", "seeds": [ "Retinal peau d'orange" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07940", "question": "What is associated with Neuropathy, hereditary sensory, X-linked?", "seeds": [ "Neuropathy, hereditary sensory, X-linked" ], "gold_answer": "Abnormal peripheral myelination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07941", "question": "What phenotype is associated with Spastic paraplegia 79A, autosomal dominant?", "seeds": [ "Spastic paraplegia 79A, autosomal dominant" ], "gold_answer": "Dysarthria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07942", "question": "What is associated with Toe phalanx synostosis?", "seeds": [ "Toe phalanx synostosis" ], "gold_answer": "Synostosis involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07943", "question": "What is associated with Abnormal transferrin saturation?", "seeds": [ "Abnormal transferrin saturation" ], "gold_answer": "Abnormal blood cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07944", "question": "What is associated with Hypoplasia of deltoid muscle?", "seeds": [ "Hypoplasia of deltoid muscle" ], "gold_answer": "Hypoplasia of the musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07945", "question": "What phenotype is associated with Lichen planus pemphigoides?", "seeds": [ "Lichen planus pemphigoides" ], "gold_answer": "Blepharitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07946", "question": "What is associated with REN-related autosomal dominant tubulointerstitial kidney disease?", "seeds": [ "REN-related autosomal dominant tubulointerstitial kidney disease" ], "gold_answer": "REN", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_07947", "question": "What is associated with Panner disease?", "seeds": [ "Panner disease" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07948", "question": "What phenotype is associated with Adams-Oliver syndrome 4?", "seeds": [ "Adams-Oliver syndrome 4" ], "gold_answer": "Patent ductus arteriosus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07949", "question": "What is associated with Iliac arterial calcification?", "seeds": [ "Iliac arterial calcification" ], "gold_answer": "Lower extremity peripheral arterial calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07950", "question": "What is associated with Hypoplasia of the capital femoral epiphysis?", "seeds": [ "Hypoplasia of the capital femoral epiphysis" ], "gold_answer": "Abnormal femoral head morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07951", "question": "What is associated with Atypical nevus?", "seeds": [ "Atypical nevus" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07952", "question": "What is associated with EEG with photoparoxysmal response grade IV?", "seeds": [ "EEG with photoparoxysmal response grade IV" ], "gold_answer": "EEG with photoparoxysmal response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07953", "question": "What is associated with Bone marrow failure syndrome 2?", "seeds": [ "Bone marrow failure syndrome 2" ], "gold_answer": "Abnormal bone marrow cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07954", "question": "What is associated with Multiple central nervous system lipomas?", "seeds": [ "Multiple central nervous system lipomas" ], "gold_answer": "Neoplasm of the central nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07955", "question": "What phenotype is associated with Toriello-Carey syndrome?", "seeds": [ "Toriello-Carey syndrome" ], "gold_answer": "Hypoplastic left heart", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07956", "question": "What is associated with Multiple pulmonary cysts?", "seeds": [ "Multiple pulmonary cysts" ], "gold_answer": "Pulmonary cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07957", "question": "What is associated with Decreased circulating alkaline phosphatase activity?", "seeds": [ "Decreased circulating alkaline phosphatase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07958", "question": "What is associated with Sonographic renal salt and pepper pattern?", "seeds": [ "Sonographic renal salt and pepper pattern" ], "gold_answer": "Abnormal renal echogenicity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07959", "question": "What is associated with Intolerance to protein?", "seeds": [ "Intolerance to protein" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07960", "question": "What is associated with Beta-alaninuria?", "seeds": [ "Beta-alaninuria" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07961", "question": "What is associated with Lissencephaly 2?", "seeds": [ "Lissencephaly 2" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07962", "question": "What is associated with Glycosylphosphatidylinositol biosynthesis defect 16?", "seeds": [ "Glycosylphosphatidylinositol biosynthesis defect 16" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07963", "question": "What phenotype is associated with Ring chromosome 13 syndrome?", "seeds": [ "Ring chromosome 13 syndrome" ], "gold_answer": "Vitreous hemorrhage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07964", "question": "What is associated with Erythrokeratodermia veriabilis et progressiva 6?", "seeds": [ "Erythrokeratodermia veriabilis et progressiva 6" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07965", "question": "What is associated with Delayed early-childhood social milestone development?", "seeds": [ "Delayed early-childhood social milestone development" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07966", "question": "What is associated with Pyruvate carboxylase deficiency?", "seeds": [ "Pyruvate carboxylase deficiency" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07967", "question": "What is associated with Episodic?", "seeds": [ "Episodic" ], "gold_answer": "Recurrent", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07968", "question": "What is associated with Elevated creatine kinase after exercise?", "seeds": [ "Elevated creatine kinase after exercise" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07969", "question": "What is associated with Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, impaired intellectual development, and recurrent inflammatory episodes?", "seeds": [ "Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, impaired intellectual development, and recurrent inflammatory episodes" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07970", "question": "What is associated with Secondary vesicoureteral reflux?", "seeds": [ "Secondary vesicoureteral reflux" ], "gold_answer": "Vesicoureteral reflux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07971", "question": "What is associated with Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type?", "seeds": [ "Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07972", "question": "What is associated with Narrow nose?", "seeds": [ "Narrow nose" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07973", "question": "What is associated with Absent nail of hallux?", "seeds": [ "Absent nail of hallux" ], "gold_answer": "Anonychia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07974", "question": "What is associated with 17q24.2 microdeletion syndrome?", "seeds": [ "17q24.2 microdeletion syndrome" ], "gold_answer": "Abnormal affect regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07975", "question": "What is associated with Immunodeficiency 112?", "seeds": [ "Immunodeficiency 112" ], "gold_answer": "IL17RC", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_07976", "question": "What is associated with Diminished MLH1 expression?", "seeds": [ "Diminished MLH1 expression" ], "gold_answer": "Abnormal marker expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07977", "question": "What is associated with Hydrocephalus-obesity-hypogonadism syndrome?", "seeds": [ "Hydrocephalus-obesity-hypogonadism syndrome" ], "gold_answer": "Short long bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07978", "question": "What is associated with Maldevelopment of radioulnar joint?", "seeds": [ "Maldevelopment of radioulnar joint" ], "gold_answer": "Abnormality of the radioulnar joints", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07979", "question": "What is associated with Maternal anticardiolipin antibody positive?", "seeds": [ "Maternal anticardiolipin antibody positive" ], "gold_answer": "Pregnancy history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07980", "question": "What is associated with Pain in head and neck region?", "seeds": [ "Pain in head and neck region" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07981", "question": "What phenotype is associated with Spastic paraplegia-nephritis-deafness syndrome?", "seeds": [ "Spastic paraplegia-nephritis-deafness syndrome" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07982", "question": "What is associated with Bronchitis?", "seeds": [ "Bronchitis" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07983", "question": "What is associated with Spinocerebellar ataxia type 20?", "seeds": [ "Spinocerebellar ataxia type 20" ], "gold_answer": "Long-tract sign", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07984", "question": "What phenotype is associated with Pituitary dermoid and epidermoid cysts?", "seeds": [ "Pituitary dermoid and epidermoid cysts" ], "gold_answer": "Meningitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_07985", "question": "What is associated with Bleeding disorder, platelet-type, 11?", "seeds": [ "Bleeding disorder, platelet-type, 11" ], "gold_answer": "Impaired platelet aggregation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07986", "question": "What is associated with Frequent falls?", "seeds": [ "Frequent falls" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07987", "question": "What is associated with Spinocerebellar degeneration and corneal dystrophy?", "seeds": [ "Spinocerebellar degeneration and corneal dystrophy" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07988", "question": "What is associated with Reduced tissue carnitine O-palmitoyltransferase 2 activity?", "seeds": [ "Reduced tissue carnitine O-palmitoyltransferase 2 activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_07989", "question": "What is associated with Pressure-induced localized lipoatrophy?", "seeds": [ "Pressure-induced localized lipoatrophy" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07990", "question": "What is associated with Dilatation of the renal pelvis?", "seeds": [ "Dilatation of the renal pelvis" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07991", "question": "What is associated with Os trigonum?", "seeds": [ "Os trigonum" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07992", "question": "What is associated with EEG with periodic complexes?", "seeds": [ "EEG with periodic complexes" ], "gold_answer": "EEG with generalized polymorphic epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07993", "question": "What is associated with Vasculitis?", "seeds": [ "Vasculitis" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07994", "question": "What is associated with Bleeding disorder, platelet-type, 13, susceptibility to?", "seeds": [ "Bleeding disorder, platelet-type, 13, susceptibility to" ], "gold_answer": "Abnormal platelet aggregation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07995", "question": "What is associated with Osteosclerosis-ichthyosis-premature ovarian failure syndrome?", "seeds": [ "Osteosclerosis-ichthyosis-premature ovarian failure syndrome" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07996", "question": "What is associated with Podocytic mitochondrial proliferation?", "seeds": [ "Podocytic mitochondrial proliferation" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07997", "question": "What is associated with Benign chronic pemphigus?", "seeds": [ "Benign chronic pemphigus" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_07998", "question": "What is associated with Spurred ulnar metaphysis?", "seeds": [ "Spurred ulnar metaphysis" ], "gold_answer": "Metaphyseal spurs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_07999", "question": "What is associated with Mandibular prognathia?", "seeds": [ "Mandibular prognathia" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08000", "question": "What is associated with Split-Hand/foot malformation 1?", "seeds": [ "Split-Hand/foot malformation 1" ], "gold_answer": "Aplasia/Hypoplasia of toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08001", "question": "What is associated with Axillary epidermoid cyst?", "seeds": [ "Axillary epidermoid cyst" ], "gold_answer": "Epidermoid cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08002", "question": "What is associated with Absent spinous processes of lower thoracic and lumbar vertebrae?", "seeds": [ "Absent spinous processes of lower thoracic and lumbar vertebrae" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08003", "question": "What is associated with Neurodevelopmental disorder with seizures and brain abnormalities?", "seeds": [ "Neurodevelopmental disorder with seizures and brain abnormalities" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08004", "question": "What is associated with Abnormal nervous system morphology?", "seeds": [ "Abnormal nervous system morphology" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08005", "question": "What is associated with Familial renal glucosuria?", "seeds": [ "Familial renal glucosuria" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08006", "question": "What phenotype is associated with Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome?", "seeds": [ "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome" ], "gold_answer": "Cryptorchidism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08007", "question": "What is associated with Monoclonal elevation of circulating IgA?", "seeds": [ "Monoclonal elevation of circulating IgA" ], "gold_answer": "Abnormal circulating IgA concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08008", "question": "What phenotype is associated with Deafness, congenital neurosensory, autosomal recessive 39?", "seeds": [ "Deafness, congenital neurosensory, autosomal recessive 39" ], "gold_answer": "Prelingual sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08009", "question": "What is associated with Volvulus?", "seeds": [ "Volvulus" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08010", "question": "What is associated with Tympanic membrane bulging?", "seeds": [ "Tympanic membrane bulging" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08011", "question": "What is associated with Inverted CD4:CD8 ratio?", "seeds": [ "Inverted CD4:CD8 ratio" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08012", "question": "What is associated with Pontocerebellar hypoplasia type 3?", "seeds": [ "Pontocerebellar hypoplasia type 3" ], "gold_answer": "PCLO", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08013", "question": "What is associated with Dihydrolipoamide dehydrogenase deficiency?", "seeds": [ "Dihydrolipoamide dehydrogenase deficiency" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08014", "question": "What is associated with Generalized?", "seeds": [ "Generalized" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08015", "question": "What is associated with EPHB4-related lymphatic-related hydrops fetalis?", "seeds": [ "EPHB4-related lymphatic-related hydrops fetalis" ], "gold_answer": "EPHB4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08016", "question": "What is associated with Steroid-sensitive nephrotic syndrome with frequent relapses?", "seeds": [ "Steroid-sensitive nephrotic syndrome with frequent relapses" ], "gold_answer": "Steroid-sensitive nephrotic syndrome", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08017", "question": "What is associated with Tropical calcific pancreatitis?", "seeds": [ "Tropical calcific pancreatitis" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08018", "question": "What is associated with Enterocutaneous fistula?", "seeds": [ "Enterocutaneous fistula" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08019", "question": "What is associated with Non-motor seizure?", "seeds": [ "Non-motor seizure" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08020", "question": "What is associated with Multiminicore myopathy?", "seeds": [ "Multiminicore myopathy" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08021", "question": "What phenotype is associated with NPHP3-related Meckel-like syndrome?", "seeds": [ "NPHP3-related Meckel-like syndrome" ], "gold_answer": "Oligohydramnios", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08022", "question": "What phenotype is associated with Short sleep, familial natural, 2?", "seeds": [ "Short sleep, familial natural, 2" ], "gold_answer": "Shortened sleep phase", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08023", "question": "What is associated with Cyclophoria?", "seeds": [ "Cyclophoria" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08024", "question": "What is associated with Cerebral hemorrhage?", "seeds": [ "Cerebral hemorrhage" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08025", "question": "What is associated with Catecholaminergic polymorphic ventricular tachycardia?", "seeds": [ "Catecholaminergic polymorphic ventricular tachycardia" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08026", "question": "What is associated with Jumping frenchman of maine?", "seeds": [ "Jumping frenchman of maine" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08027", "question": "What is associated with Peroneus tertius muscle, absence of?", "seeds": [ "Peroneus tertius muscle, absence of" ], "gold_answer": "Limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08028", "question": "What is associated with Decreased CD69 upregulation upon TCR activation?", "seeds": [ "Decreased CD69 upregulation upon TCR activation" ], "gold_answer": "Abnormal T cell activation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08029", "question": "What is associated with Ureterocele?", "seeds": [ "Ureterocele" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08030", "question": "What is associated with Hoyeraal-Hreidarsson syndrome?", "seeds": [ "Hoyeraal-Hreidarsson syndrome" ], "gold_answer": "Atrophy/Degeneration affecting the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08031", "question": "What is associated with Ophthalmic artery occlusion?", "seeds": [ "Ophthalmic artery occlusion" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08032", "question": "What is associated with Spurred ulnar metaphysis?", "seeds": [ "Spurred ulnar metaphysis" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08033", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 17?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 17" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08034", "question": "What is associated with Precocious puberty, central?", "seeds": [ "Precocious puberty, central" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08035", "question": "What is associated with Deafness, X-linked 3?", "seeds": [ "Deafness, X-linked 3" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08036", "question": "What is associated with Chin with vertical crease?", "seeds": [ "Chin with vertical crease" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08037", "question": "What is associated with Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome?", "seeds": [ "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08038", "question": "What is associated with Spastic paraplegia with associated extrapyramidal signs?", "seeds": [ "Spastic paraplegia with associated extrapyramidal signs" ], "gold_answer": "Paraplegia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08039", "question": "What is associated with Mitochondrial DNA depletion syndrome 18?", "seeds": [ "Mitochondrial DNA depletion syndrome 18" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08040", "question": "What is associated with Abnormal interpretation of external stimuli?", "seeds": [ "Abnormal interpretation of external stimuli" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08041", "question": "What is associated with Renal-hepatic-pancreatic dysplasia 1?", "seeds": [ "Renal-hepatic-pancreatic dysplasia 1" ], "gold_answer": "Abnormality of the hepatic vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08042", "question": "What is associated with Congenital disorder of glycosylation, type In?", "seeds": [ "Congenital disorder of glycosylation, type In" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08043", "question": "What is associated with Deafness-vitiligo-achalasia syndrome?", "seeds": [ "Deafness-vitiligo-achalasia syndrome" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08044", "question": "What phenotype is associated with Ohdo syndrome?", "seeds": [ "Ohdo syndrome" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08045", "question": "What is associated with Soft skin?", "seeds": [ "Soft skin" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08046", "question": "What phenotype is associated with Hemoglobin C-beta-thalassemia syndrome?", "seeds": [ "Hemoglobin C-beta-thalassemia syndrome" ], "gold_answer": "Microcytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08047", "question": "What is associated with Abnormal limb epiphysis morphology?", "seeds": [ "Abnormal limb epiphysis morphology" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08048", "question": "What is associated with Prolonged use of tightly fitting footwear?", "seeds": [ "Prolonged use of tightly fitting footwear" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08049", "question": "What is associated with Nodular subcortical heterotopia in peritrigonal regions?", "seeds": [ "Nodular subcortical heterotopia in peritrigonal regions" ], "gold_answer": "Subcortical heterotopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08050", "question": "What is associated with Abnormality of the hairline?", "seeds": [ "Abnormality of the hairline" ], "gold_answer": "Abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08051", "question": "What is associated with Autism, susceptibility to, X-linked 6?", "seeds": [ "Autism, susceptibility to, X-linked 6" ], "gold_answer": "Autistic behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08052", "question": "What is associated with Decreased circulating T4 concentration?", "seeds": [ "Decreased circulating T4 concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08053", "question": "What is associated with Woolly hair nevus?", "seeds": [ "Woolly hair nevus" ], "gold_answer": "Abnormal pupil morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08054", "question": "What is associated with Microscopic polyangiitis?", "seeds": [ "Microscopic polyangiitis" ], "gold_answer": "Abnormality of blood circulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08055", "question": "What is associated with Decreased CSF N-acetyl-aspartyl-glutamate concentration?", "seeds": [ "Decreased CSF N-acetyl-aspartyl-glutamate concentration" ], "gold_answer": "Abnormal CSF protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08056", "question": "What is associated with Cerebellar calcifications?", "seeds": [ "Cerebellar calcifications" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08057", "question": "What is associated with Anorectal abscess?", "seeds": [ "Anorectal abscess" ], "gold_answer": "Abscess", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08058", "question": "What is associated with Saccadic oscillation?", "seeds": [ "Saccadic oscillation" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08059", "question": "What is associated with Nodular melanoma?", "seeds": [ "Nodular melanoma" ], "gold_answer": "Cutaneous melanoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08060", "question": "What is associated with Absence of intrinsic factor?", "seeds": [ "Absence of intrinsic factor" ], "gold_answer": "Abnormal stomach morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08061", "question": "What is associated with Interstitial nephritis, karyomegalic?", "seeds": [ "Interstitial nephritis, karyomegalic" ], "gold_answer": "Abnormal urine cytology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08062", "question": "What is associated with Focal hyperpigmented area associated with subretinal scar tissue?", "seeds": [ "Focal hyperpigmented area associated with subretinal scar tissue" ], "gold_answer": "Abnormal fundus pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08063", "question": "What is associated with Folate-responsive megaloblastic anemia?", "seeds": [ "Folate-responsive megaloblastic anemia" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08064", "question": "What is associated with Alazami syndrome?", "seeds": [ "Alazami syndrome" ], "gold_answer": "Abnormality of mouth size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08065", "question": "What phenotype is associated with Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities?", "seeds": [ "Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08066", "question": "What is associated with Medial arterial calcification?", "seeds": [ "Medial arterial calcification" ], "gold_answer": "Arterial calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08067", "question": "What is associated with Venous malformations, multiple cutaneous and mucosal?", "seeds": [ "Venous malformations, multiple cutaneous and mucosal" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08068", "question": "What is associated with Glycogen accumulation in muscle fiber lysosomes?", "seeds": [ "Glycogen accumulation in muscle fiber lysosomes" ], "gold_answer": "Abnormal muscle tissue metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08069", "question": "What is associated with Spermatogenic failure 66?", "seeds": [ "Spermatogenic failure 66" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08070", "question": "What phenotype is associated with Circumvallate placenta syndrome?", "seeds": [ "Circumvallate placenta syndrome" ], "gold_answer": "Intracranial hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08071", "question": "What is associated with Vitreous floaters?", "seeds": [ "Vitreous floaters" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08072", "question": "What is associated with Platelet antibody positive?", "seeds": [ "Platelet antibody positive" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08073", "question": "What is associated with Bicoronal synostosis?", "seeds": [ "Bicoronal synostosis" ], "gold_answer": "Coronal craniosynostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08074", "question": "What is associated with Primary CD59 deficiency?", "seeds": [ "Primary CD59 deficiency" ], "gold_answer": "CD59", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08075", "question": "What is associated with Membranous ventricular septal aneurysm?", "seeds": [ "Membranous ventricular septal aneurysm" ], "gold_answer": "Abnormal cardiac septum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08076", "question": "What is associated with Cylindruria?", "seeds": [ "Cylindruria" ], "gold_answer": "Abnormal urine cytology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08077", "question": "What is associated with Spastic paraplegia 82, autosomal recessive?", "seeds": [ "Spastic paraplegia 82, autosomal recessive" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08078", "question": "What phenotype is associated with DYSTELEPHALANGY?", "seeds": [ "DYSTELEPHALANGY" ], "gold_answer": "Curved distal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08079", "question": "What phenotype is associated with Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia?", "seeds": [ "Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" ], "gold_answer": "Metaphyseal irregularity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08080", "question": "What phenotype is associated with Spastic ataxia 1, autosomal dominant?", "seeds": [ "Spastic ataxia 1, autosomal dominant" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08081", "question": "What is associated with Gonadotropin deficiency?", "seeds": [ "Gonadotropin deficiency" ], "gold_answer": "Anterior hypopituitarism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08082", "question": "What is associated with Developmental and epileptic encephalopathy 89?", "seeds": [ "Developmental and epileptic encephalopathy 89" ], "gold_answer": "Micrognathia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08083", "question": "What is associated with Mulberry molar?", "seeds": [ "Mulberry molar" ], "gold_answer": "Supernumerary cusp", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08084", "question": "What is associated with Prenatal double bubble sign?", "seeds": [ "Prenatal double bubble sign" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08085", "question": "What is associated with Regional left ventricular wall motion abnormality?", "seeds": [ "Regional left ventricular wall motion abnormality" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08086", "question": "What is associated with Greig cephalopolysyndactyly syndrome?", "seeds": [ "Greig cephalopolysyndactyly syndrome" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08087", "question": "What is associated with Autosomal dominant severe congenital neutropenia?", "seeds": [ "Autosomal dominant severe congenital neutropenia" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08088", "question": "What is associated with Stippling of the epiphysis of the distal phalanx of the thumb?", "seeds": [ "Stippling of the epiphysis of the distal phalanx of the thumb" ], "gold_answer": "Stippling of the epiphyses of the distal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08089", "question": "What is associated with Elevated circulating apolipoprotein A-IV concentration?", "seeds": [ "Elevated circulating apolipoprotein A-IV concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08090", "question": "What is associated with Synophrys?", "seeds": [ "Synophrys" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08091", "question": "What is associated with Short stature, optic nerve atrophy, and pelger-huet anomaly?", "seeds": [ "Short stature, optic nerve atrophy, and pelger-huet anomaly" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08092", "question": "What is associated with Attention deficit-hyperactivity disorder?", "seeds": [ "Attention deficit-hyperactivity disorder" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08093", "question": "What phenotype is associated with Bilateral parasagittal parieto-occipital polymicrogyria?", "seeds": [ "Bilateral parasagittal parieto-occipital polymicrogyria" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08094", "question": "What is associated with Luo-Schoch-Yamamoto syndrome?", "seeds": [ "Luo-Schoch-Yamamoto syndrome" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08095", "question": "What is associated with Myocardial fibrosis?", "seeds": [ "Myocardial fibrosis" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08096", "question": "What is associated with Cochlear nerve aplasia?", "seeds": [ "Cochlear nerve aplasia" ], "gold_answer": "Abnormal inner ear nerve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08097", "question": "What phenotype is associated with Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2?", "seeds": [ "Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2" ], "gold_answer": "Exocrine pancreatic insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08098", "question": "What phenotype is associated with Absent radius-anogenital anomalies syndrome?", "seeds": [ "Absent radius-anogenital anomalies syndrome" ], "gold_answer": "Ectrodactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08099", "question": "What is associated with 1-minute APGAR score of 4?", "seeds": [ "1-minute APGAR score of 4" ], "gold_answer": "Low APGAR score", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08100", "question": "What is associated with Diarrhea?", "seeds": [ "Diarrhea" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08101", "question": "What is associated with Oocyte maturation defect 12?", "seeds": [ "Oocyte maturation defect 12" ], "gold_answer": "Abnormal embryonic development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08102", "question": "What is associated with Unfavorable response of muscle weakness to acetylcholine esterase inhibitors?", "seeds": [ "Unfavorable response of muscle weakness to acetylcholine esterase inhibitors" ], "gold_answer": "Response to drugs acting on neuromuscular transmission", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08103", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 73?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 73" ], "gold_answer": "Hypoglycemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08104", "question": "What is associated with Congenital disorder of glycosylation, type IIr?", "seeds": [ "Congenital disorder of glycosylation, type IIr" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08105", "question": "What is associated with Progressive vitiligo?", "seeds": [ "Progressive vitiligo" ], "gold_answer": "Vitiligo", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08106", "question": "What phenotype is associated with Hemochromatosis, type 2B?", "seeds": [ "Hemochromatosis, type 2B" ], "gold_answer": "Congestive heart failure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08107", "question": "What is associated with Meconium aspiration syndrome?", "seeds": [ "Meconium aspiration syndrome" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08108", "question": "What phenotype is associated with EPICANTHUS?", "seeds": [ "EPICANTHUS" ], "gold_answer": "Epicanthus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08109", "question": "What phenotype is associated with Hypodontia-dysplasia of nails syndrome?", "seeds": [ "Hypodontia-dysplasia of nails syndrome" ], "gold_answer": "Polycystic ovaries", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08110", "question": "What phenotype is associated with Leg, absence deformity of, with congenital cataract?", "seeds": [ "Leg, absence deformity of, with congenital cataract" ], "gold_answer": "Developmental cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08111", "question": "What is associated with Subependymal giant-cell astrocytoma?", "seeds": [ "Subependymal giant-cell astrocytoma" ], "gold_answer": "Abnormal glial cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08112", "question": "What is associated with KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome?", "seeds": [ "KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome" ], "gold_answer": "KLHL7", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08113", "question": "What is associated with Tibiotalar synostosis?", "seeds": [ "Tibiotalar synostosis" ], "gold_answer": "Synostosis involving the fibula", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08114", "question": "What is associated with Cataract-hypertrichosis-intellectual disability syndrome?", "seeds": [ "Cataract-hypertrichosis-intellectual disability syndrome" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08115", "question": "What is associated with Craniofacial asymmetry?", "seeds": [ "Craniofacial asymmetry" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08116", "question": "What is associated with Hypernatriuria?", "seeds": [ "Hypernatriuria" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08117", "question": "What is associated with Malrotation of colon?", "seeds": [ "Malrotation of colon" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08118", "question": "What is associated with Focal impaired awareness manual automatism seizure?", "seeds": [ "Focal impaired awareness manual automatism seizure" ], "gold_answer": "Focal automatism seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08119", "question": "What is associated with Unusual gastrointestinal infection?", "seeds": [ "Unusual gastrointestinal infection" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08120", "question": "What phenotype is associated with Myoclonic epilepsy, juvenile, 2?", "seeds": [ "Myoclonic epilepsy, juvenile, 2" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08121", "question": "What phenotype is associated with AICA-ribosiduria?", "seeds": [ "AICA-ribosiduria" ], "gold_answer": "Low-set ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08122", "question": "What is associated with Anti-factor VII antibody positivity?", "seeds": [ "Anti-factor VII antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08123", "question": "What is associated with Indifference to pain, congenital, autosomal recessive?", "seeds": [ "Indifference to pain, congenital, autosomal recessive" ], "gold_answer": "Abnormality of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08124", "question": "What is associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency?", "seeds": [ "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08125", "question": "What is associated with Reduced beta-hexosaminidase B activity?", "seeds": [ "Reduced beta-hexosaminidase B activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08126", "question": "What is associated with Scoliosis?", "seeds": [ "Scoliosis" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08127", "question": "What is associated with Continuous heart murmur?", "seeds": [ "Continuous heart murmur" ], "gold_answer": "Abnormal heart sound", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08128", "question": "What is associated with Aplasia/Hypoplasia of the distal phalanx of the hallux?", "seeds": [ "Aplasia/Hypoplasia of the distal phalanx of the hallux" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08129", "question": "What is associated with Symmetric great toe depigmentation?", "seeds": [ "Symmetric great toe depigmentation" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08130", "question": "What phenotype is associated with Chromosome 14q11-q22 deletion syndrome?", "seeds": [ "Chromosome 14q11-q22 deletion syndrome" ], "gold_answer": "Barrett esophagus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08131", "question": "What is associated with Thyroid atypical adenoma?", "seeds": [ "Thyroid atypical adenoma" ], "gold_answer": "Neoplasm of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08132", "question": "What is associated with Short 4th metacarpal?", "seeds": [ "Short 4th metacarpal" ], "gold_answer": "Aplasia/Hypoplasia involving the metacarpal bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08133", "question": "What is associated with Part-solid pulmonary nodule?", "seeds": [ "Part-solid pulmonary nodule" ], "gold_answer": "Abnormal pulmonary thoracic imaging finding", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08134", "question": "What phenotype is associated with Familial congenital mirror movements?", "seeds": [ "Familial congenital mirror movements" ], "gold_answer": "Poor fine motor coordination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08135", "question": "What is associated with Alpha-B crystallin-related late-onset myopathy?", "seeds": [ "Alpha-B crystallin-related late-onset myopathy" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08136", "question": "What is associated with Sudden cardiac failure, alcohol-induced?", "seeds": [ "Sudden cardiac failure, alcohol-induced" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08137", "question": "What is associated with Delayed tarsal ossification?", "seeds": [ "Delayed tarsal ossification" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08138", "question": "What is associated with Decreased circulating complement component 1s concentration?", "seeds": [ "Decreased circulating complement component 1s concentration" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08139", "question": "What is associated with Intratubular hemoglobin casts?", "seeds": [ "Intratubular hemoglobin casts" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08140", "question": "What is associated with Abnormal conjugate eye movement?", "seeds": [ "Abnormal conjugate eye movement" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08141", "question": "What is associated with Bilateral cryptorchidism?", "seeds": [ "Bilateral cryptorchidism" ], "gold_answer": "Cryptorchidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08142", "question": "What is associated with Cerebellar atrophy?", "seeds": [ "Cerebellar atrophy" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08143", "question": "What is associated with Myoclonus-cerebellar ataxia-deafness syndrome?", "seeds": [ "Myoclonus-cerebellar ataxia-deafness syndrome" ], "gold_answer": "EMG abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08144", "question": "What phenotype is associated with Congenital pulmonary lymphangiectasia?", "seeds": [ "Congenital pulmonary lymphangiectasia" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08145", "question": "What is associated with Abnormality of inferior oblique extraocular muscle?", "seeds": [ "Abnormality of inferior oblique extraocular muscle" ], "gold_answer": "Abnormality of the extraocular muscles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08146", "question": "What is associated with Elevated urinary N-tau-ribosylhistidine level?", "seeds": [ "Elevated urinary N-tau-ribosylhistidine level" ], "gold_answer": "Increased urine proteinogenic amino acid derivative level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08147", "question": "What is associated with Quadriceps aplasia?", "seeds": [ "Quadriceps aplasia" ], "gold_answer": "Abnormality of muscle size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08148", "question": "What is associated with Abnormality of the middle ear ossicles?", "seeds": [ "Abnormality of the middle ear ossicles" ], "gold_answer": "Abnormal middle ear morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08149", "question": "What is associated with Focal aware cognitive seizure with expressive dysphasia/aphasia?", "seeds": [ "Focal aware cognitive seizure with expressive dysphasia/aphasia" ], "gold_answer": "Focal aware non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08150", "question": "What is associated with Plantar telangiectasia?", "seeds": [ "Plantar telangiectasia" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08151", "question": "What is associated with Primary condylar hyperplasia?", "seeds": [ "Primary condylar hyperplasia" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08152", "question": "What is associated with Elevated urine 2-methylacetoacetic acid level?", "seeds": [ "Elevated urine 2-methylacetoacetic acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08153", "question": "What is associated with Increased proportion of CD8+ TEMRA T cells?", "seeds": [ "Increased proportion of CD8+ TEMRA T cells" ], "gold_answer": "Abnormal memory CD8+ T cell proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08154", "question": "What is associated with Gombo syndrome?", "seeds": [ "Gombo syndrome" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08155", "question": "What is associated with Elevated circulating hyaluronic acid concentration?", "seeds": [ "Elevated circulating hyaluronic acid concentration" ], "gold_answer": "Abnormal circulating polysaccharide concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08156", "question": "What is associated with Hemoglobin Barts?", "seeds": [ "Hemoglobin Barts" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08157", "question": "What phenotype is associated with Chromosome 15q11.2 deletion syndrome?", "seeds": [ "Chromosome 15q11.2 deletion syndrome" ], "gold_answer": "Elevated circulating C-reactive protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08158", "question": "What is associated with Subcutaneous ossification?", "seeds": [ "Subcutaneous ossification" ], "gold_answer": "Ectopic ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08159", "question": "What is associated with Developmental dysplasia of the hip 3?", "seeds": [ "Developmental dysplasia of the hip 3" ], "gold_answer": "Abnormal hip joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08160", "question": "What is associated with Acute otitis media?", "seeds": [ "Acute otitis media" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08161", "question": "What is associated with Bronchial neoplasm?", "seeds": [ "Bronchial neoplasm" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08162", "question": "What is associated with Niemann-Pick disease type C, severe perinatal form?", "seeds": [ "Niemann-Pick disease type C, severe perinatal form" ], "gold_answer": "NPC2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08163", "question": "What is associated with Urethral fistula?", "seeds": [ "Urethral fistula" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08164", "question": "What is associated with Beta-thalassemia intermedia?", "seeds": [ "Beta-thalassemia intermedia" ], "gold_answer": "Pre-capillary pulmonary hypertension", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08165", "question": "What is associated with Chronic bronchitis?", "seeds": [ "Chronic bronchitis" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08166", "question": "What is associated with Polydactyly, postaxial, type A7?", "seeds": [ "Polydactyly, postaxial, type A7" ], "gold_answer": "Abnormal fifth toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08167", "question": "What is associated with Hypoplasia of the epiglottis?", "seeds": [ "Hypoplasia of the epiglottis" ], "gold_answer": "Abnormal epiglottis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08168", "question": "What is associated with Stippled calcification of hand bones?", "seeds": [ "Stippled calcification of hand bones" ], "gold_answer": "Irregular ossification of hand bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08169", "question": "What phenotype is associated with Torticollis, keloids, cryptorchidism, and renal dysplasia?", "seeds": [ "Torticollis, keloids, cryptorchidism, and renal dysplasia" ], "gold_answer": "Unilateral renal atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08170", "question": "What is associated with Eosinophilic lymph node infiltration?", "seeds": [ "Eosinophilic lymph node infiltration" ], "gold_answer": "Abnormal lymph node cell composition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08171", "question": "What is associated with Abnormal subungual morphology?", "seeds": [ "Abnormal subungual morphology" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08172", "question": "What is associated with Fragmented finger phalanx epiphysis?", "seeds": [ "Fragmented finger phalanx epiphysis" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08173", "question": "What is associated with Autosomal recessive bestrophinopathy?", "seeds": [ "Autosomal recessive bestrophinopathy" ], "gold_answer": "BEST1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08174", "question": "What is associated with Cerebral calcification?", "seeds": [ "Cerebral calcification" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08175", "question": "What is associated with 46,XX difference of sex development-skeletal anomalies syndrome?", "seeds": [ "46,XX difference of sex development-skeletal anomalies syndrome" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08176", "question": "What is associated with Olivopontocerebellar atrophy?", "seeds": [ "Olivopontocerebellar atrophy" ], "gold_answer": "Abnormal hindbrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08177", "question": "What is associated with Emphysema, congenital lobar?", "seeds": [ "Emphysema, congenital lobar" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08178", "question": "What is associated with 9q33.3q34.11 microdeletion syndrome?", "seeds": [ "9q33.3q34.11 microdeletion syndrome" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08179", "question": "What is associated with Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant?", "seeds": [ "Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant" ], "gold_answer": "Bilateral tonic-clonic seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08180", "question": "What is associated with Familial porphyria cutanea tarda?", "seeds": [ "Familial porphyria cutanea tarda" ], "gold_answer": "UROD", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_08181", "question": "What is associated with Delayed ability to roll over?", "seeds": [ "Delayed ability to roll over" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08182", "question": "What phenotype is associated with Epidermolysis bullosa simplex, Dowling-Meara type?", "seeds": [ "Epidermolysis bullosa simplex, Dowling-Meara type" ], "gold_answer": "Milia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08183", "question": "What is associated with Increased RBC distribution width?", "seeds": [ "Increased RBC distribution width" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08184", "question": "What is associated with Small epiphyses of the 2nd finger?", "seeds": [ "Small epiphyses of the 2nd finger" ], "gold_answer": "Small epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08185", "question": "What is associated with Maturity-onset diabetes of the young, type 13?", "seeds": [ "Maturity-onset diabetes of the young, type 13" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08186", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the 2nd finger?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the 2nd finger" ], "gold_answer": "Patchy sclerosis of 2nd finger phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08187", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 38?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 38" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08188", "question": "What is associated with Renal interstitial xanthogranulomatous inflammation?", "seeds": [ "Renal interstitial xanthogranulomatous inflammation" ], "gold_answer": "Abnormal renal interstitial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08189", "question": "What phenotype is associated with Skraban-Deardorff syndrome?", "seeds": [ "Skraban-Deardorff syndrome" ], "gold_answer": "Small hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08190", "question": "What is associated with Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts?", "seeds": [ "Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts" ], "gold_answer": "Abnormal enzyme activity in cultured fibroblasts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08191", "question": "What is associated with Focal aware motor seizure with dysarthria/anarthria?", "seeds": [ "Focal aware motor seizure with dysarthria/anarthria" ], "gold_answer": "Focal aware motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08192", "question": "What phenotype is associated with Renpenning syndrome?", "seeds": [ "Renpenning syndrome" ], "gold_answer": "Narrow foot", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08193", "question": "What phenotype is associated with Chromosome 20q11-q12 deletion syndrome?", "seeds": [ "Chromosome 20q11-q12 deletion syndrome" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08194", "question": "What is associated with Fusiform cerebral aneurysm?", "seeds": [ "Fusiform cerebral aneurysm" ], "gold_answer": "Abnormal cerebral artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08195", "question": "What is associated with Abnormal aortic valve cusp morphology?", "seeds": [ "Abnormal aortic valve cusp morphology" ], "gold_answer": "Abnormal aortic valve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08196", "question": "What is associated with Fractured fibula?", "seeds": [ "Fractured fibula" ], "gold_answer": "Fractured hindlimb bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08197", "question": "What is associated with Aniridia 2?", "seeds": [ "Aniridia 2" ], "gold_answer": "Abnormal optic disc morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08198", "question": "What is associated with Malar prominence?", "seeds": [ "Malar prominence" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08199", "question": "What is associated with Reduced haptoglobin level?", "seeds": [ "Reduced haptoglobin level" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08200", "question": "What is associated with PR segment depression?", "seeds": [ "PR segment depression" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08201", "question": "What is associated with Positive blood lead test?", "seeds": [ "Positive blood lead test" ], "gold_answer": "Blood xenobiotic", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08202", "question": "What is associated with Multiple rib fractures?", "seeds": [ "Multiple rib fractures" ], "gold_answer": "Abnormal rib morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08203", "question": "What is associated with Square-wave jerks?", "seeds": [ "Square-wave jerks" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08204", "question": "What is associated with Unilateral renal atrophy?", "seeds": [ "Unilateral renal atrophy" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08205", "question": "What is associated with Abnormal palate morphology?", "seeds": [ "Abnormal palate morphology" ], "gold_answer": "Abnormality of the mouth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08206", "question": "What phenotype is associated with Lacrimoauriculodentodigital syndrome-2?", "seeds": [ "Lacrimoauriculodentodigital syndrome-2" ], "gold_answer": "Deeply set eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08207", "question": "What is associated with Cortical sclerosis?", "seeds": [ "Cortical sclerosis" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08208", "question": "What is associated with Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome?", "seeds": [ "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08209", "question": "What phenotype is associated with Cerebellar hypoplasia-tapetoretinal degeneration syndrome?", "seeds": [ "Cerebellar hypoplasia-tapetoretinal degeneration syndrome" ], "gold_answer": "Abnormal electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08210", "question": "What phenotype is associated with Doyne honeycomb retinal dystrophy?", "seeds": [ "Doyne honeycomb retinal dystrophy" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08211", "question": "What is associated with Osteosclerosis of the ulna?", "seeds": [ "Osteosclerosis of the ulna" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08212", "question": "What is associated with Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis?", "seeds": [ "Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08213", "question": "What is associated with Triangular epiphysis of the proximal phalanx of the 4th toe?", "seeds": [ "Triangular epiphysis of the proximal phalanx of the 4th toe" ], "gold_answer": "Abnormality of the epiphyses of the 4th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08214", "question": "What is associated with Menke-Hennekam syndrome 1?", "seeds": [ "Menke-Hennekam syndrome 1" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08215", "question": "What is associated with Amelogenesis imperfecta, hypomaturation type, iia3?", "seeds": [ "Amelogenesis imperfecta, hypomaturation type, iia3" ], "gold_answer": "Abnormal oral physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08216", "question": "What is associated with Bleeding disorder in hemophilia A carriers?", "seeds": [ "Bleeding disorder in hemophilia A carriers" ], "gold_answer": "Abnormality of the menstrual cycle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08217", "question": "What is associated with Abnormal coronary artery course?", "seeds": [ "Abnormal coronary artery course" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08218", "question": "What phenotype is associated with Zttk syndrome?", "seeds": [ "Zttk syndrome" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08219", "question": "What is associated with Impaired ability to organize?", "seeds": [ "Impaired ability to organize" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08220", "question": "What is associated with Neurodevelopmental disorder with hyperkinetic movements and dyskinesia?", "seeds": [ "Neurodevelopmental disorder with hyperkinetic movements and dyskinesia" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08221", "question": "What is associated with Synostosis involving the 1st metatarsal?", "seeds": [ "Synostosis involving the 1st metatarsal" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08222", "question": "What is associated with Combined oxidative phosphorylation deficiency 7?", "seeds": [ "Combined oxidative phosphorylation deficiency 7" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08223", "question": "What is associated with Cerebral berry aneurysm?", "seeds": [ "Cerebral berry aneurysm" ], "gold_answer": "Abnormal cerebral artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08224", "question": "What is associated with Ectopic accessory toe-like appendage?", "seeds": [ "Ectopic accessory toe-like appendage" ], "gold_answer": "Foot polydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08225", "question": "What is associated with Urachal diverticulum?", "seeds": [ "Urachal diverticulum" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08226", "question": "What is associated with Supernumerary lacrimal punctum?", "seeds": [ "Supernumerary lacrimal punctum" ], "gold_answer": "Abnormal lacrimal punctum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08227", "question": "What is associated with Bidirectional ventricular ectopy?", "seeds": [ "Bidirectional ventricular ectopy" ], "gold_answer": "Premature ventricular contraction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08228", "question": "What is associated with Poliosis?", "seeds": [ "Poliosis" ], "gold_answer": "Abnormality of hair pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08229", "question": "What is associated with Ciliary dyskinesia, primary, 19?", "seeds": [ "Ciliary dyskinesia, primary, 19" ], "gold_answer": "Decreased fertility in males", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08230", "question": "What is associated with Lymphatic malformation 1?", "seeds": [ "Lymphatic malformation 1" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08231", "question": "What is associated with Cone-Rod dystrophy 2?", "seeds": [ "Cone-Rod dystrophy 2" ], "gold_answer": "Retinal atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08232", "question": "What is associated with Anti-Ma1 antibody positivity?", "seeds": [ "Anti-Ma1 antibody positivity" ], "gold_answer": "Anti-Ma antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08233", "question": "What is associated with Oocyte maturation defect 11?", "seeds": [ "Oocyte maturation defect 11" ], "gold_answer": "Infertility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08234", "question": "What is associated with Absent epiphyses of the 2nd finger?", "seeds": [ "Absent epiphyses of the 2nd finger" ], "gold_answer": "Absent epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08235", "question": "What phenotype is associated with Transketolase deficiency?", "seeds": [ "Transketolase deficiency" ], "gold_answer": "Type I diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08236", "question": "What is associated with Weiss-Kruszka syndrome?", "seeds": [ "Weiss-Kruszka syndrome" ], "gold_answer": "Abnormality of the metopic suture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08237", "question": "What is associated with Vaginal foreign body sensation?", "seeds": [ "Vaginal foreign body sensation" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08238", "question": "What is associated with Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease?", "seeds": [ "Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08239", "question": "What is associated with Abnormality of intracranial pressure?", "seeds": [ "Abnormality of intracranial pressure" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08240", "question": "What is associated with Fibroadenoma of the breast?", "seeds": [ "Fibroadenoma of the breast" ], "gold_answer": "Sarcoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08241", "question": "What is associated with Platelet antibody positive?", "seeds": [ "Platelet antibody positive" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08242", "question": "What is associated with Dystonia 22, adult-onset?", "seeds": [ "Dystonia 22, adult-onset" ], "gold_answer": "Tremor by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08243", "question": "What is associated with Vestibulocochlear dysfunction, progressive?", "seeds": [ "Vestibulocochlear dysfunction, progressive" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08244", "question": "What is associated with Sickle cell-beta plus-thalassemia?", "seeds": [ "Sickle cell-beta plus-thalassemia" ], "gold_answer": "HBB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08245", "question": "What is associated with Breath-holding spell?", "seeds": [ "Breath-holding spell" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08246", "question": "What is associated with Tetraamelia?", "seeds": [ "Tetraamelia" ], "gold_answer": "Aplasia/hypoplasia of the extremities", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08247", "question": "What is associated with Absent lower eyelashes?", "seeds": [ "Absent lower eyelashes" ], "gold_answer": "Absent hair", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08248", "question": "What is associated with Priapism?", "seeds": [ "Priapism" ], "gold_answer": "Male sexual dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08249", "question": "What is associated with Increased total neutrophil count?", "seeds": [ "Increased total neutrophil count" ], "gold_answer": "Abnormal neutrophil morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08250", "question": "What is associated with Developmental and epileptic encephalopathy with spike-wave activation in sleep?", "seeds": [ "Developmental and epileptic encephalopathy with spike-wave activation in sleep" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08251", "question": "What phenotype is associated with Alpha-B crystallin-related late-onset myopathy?", "seeds": [ "Alpha-B crystallin-related late-onset myopathy" ], "gold_answer": "Dysphonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08252", "question": "What is associated with Gonadal dysgenesis, male?", "seeds": [ "Gonadal dysgenesis, male" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08253", "question": "What is associated with Giant cell hepatitis?", "seeds": [ "Giant cell hepatitis" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08254", "question": "What is associated with Increased cardiac output?", "seeds": [ "Increased cardiac output" ], "gold_answer": "Abnormal cardiac output", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08255", "question": "What is associated with Decreased RV/TLC ratio?", "seeds": [ "Decreased RV/TLC ratio" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08256", "question": "What is associated with Eyelid fasciculation?", "seeds": [ "Eyelid fasciculation" ], "gold_answer": "Abnormal eyelid movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08257", "question": "What is associated with Lymph node xanthomatosis?", "seeds": [ "Lymph node xanthomatosis" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08258", "question": "What phenotype is associated with Isolated hemihyperplasia?", "seeds": [ "Isolated hemihyperplasia" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08259", "question": "What is associated with Abnormal mitochondrial number?", "seeds": [ "Abnormal mitochondrial number" ], "gold_answer": "Abnormal mitochondrial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08260", "question": "What is associated with Elevated circulating interleukin 1 receptor antagonist concentration?", "seeds": [ "Elevated circulating interleukin 1 receptor antagonist concentration" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08261", "question": "What is associated with Asymmetry of the position of the ears?", "seeds": [ "Asymmetry of the position of the ears" ], "gold_answer": "Asymmetry of the ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08262", "question": "What is associated with Elevated urine suberylglycine level?", "seeds": [ "Elevated urine suberylglycine level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08263", "question": "What is associated with Ichthyosis vulgaris?", "seeds": [ "Ichthyosis vulgaris" ], "gold_answer": "Abnormal epidermis stratum granulosum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08264", "question": "What phenotype is associated with Monosomy 9q22.3 syndrome?", "seeds": [ "Monosomy 9q22.3 syndrome" ], "gold_answer": "Delayed eruption of teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08265", "question": "What is associated with Increased circulating metamyelocyte count?", "seeds": [ "Increased circulating metamyelocyte count" ], "gold_answer": "Increased circulating immature neutrophil count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08266", "question": "What phenotype is associated with Osteoarthritis with mild chondrodysplasia?", "seeds": [ "Osteoarthritis with mild chondrodysplasia" ], "gold_answer": "Joint stiffness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08267", "question": "What is associated with Immunodeficiency 14?", "seeds": [ "Immunodeficiency 14" ], "gold_answer": "Abnormal transitional B cell proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08268", "question": "What is associated with Black pigment gallstones?", "seeds": [ "Black pigment gallstones" ], "gold_answer": "Pigment gallstones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08269", "question": "What is associated with Abnormality of superoxide metabolism?", "seeds": [ "Abnormality of superoxide metabolism" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08270", "question": "What is associated with Ataxia-Oculomotor apraxia 3?", "seeds": [ "Ataxia-Oculomotor apraxia 3" ], "gold_answer": "Peripheral axonal degeneration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08271", "question": "What is associated with CSF anti-myelin oligodendrocyte glycoprotein antibody positivity?", "seeds": [ "CSF anti-myelin oligodendrocyte glycoprotein antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08272", "question": "What phenotype is associated with Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis?", "seeds": [ "Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" ], "gold_answer": "Knee flexion contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08273", "question": "What is associated with Bifid first metacarpal?", "seeds": [ "Bifid first metacarpal" ], "gold_answer": "Duplication of the 1st metacarpal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08274", "question": "What is associated with Abnormal muscle physiology?", "seeds": [ "Abnormal muscle physiology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08275", "question": "What is associated with Colonic eosinophilia?", "seeds": [ "Colonic eosinophilia" ], "gold_answer": "Inflammation of the large intestine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08276", "question": "What is associated with Diabetes mellitus, transient neonatal, 1?", "seeds": [ "Diabetes mellitus, transient neonatal, 1" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08277", "question": "What is associated with Type I truncus arteriosus?", "seeds": [ "Type I truncus arteriosus" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08278", "question": "What is associated with Abnormal endocrine physiology?", "seeds": [ "Abnormal endocrine physiology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08279", "question": "What is associated with Cone-shaped epiphyses of the phalanges of the hand?", "seeds": [ "Cone-shaped epiphyses of the phalanges of the hand" ], "gold_answer": "Abnormal hand epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08280", "question": "What is associated with Secondary non-traumatic avascular necrosis?", "seeds": [ "Secondary non-traumatic avascular necrosis" ], "gold_answer": "TNIP1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_08281", "question": "What is associated with Eggshell calcification of lymph nodes?", "seeds": [ "Eggshell calcification of lymph nodes" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08282", "question": "What is associated with Hyperbilirubinemia, familial transient neonatal?", "seeds": [ "Hyperbilirubinemia, familial transient neonatal" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08283", "question": "What is associated with Peripheral schwannoma?", "seeds": [ "Peripheral schwannoma" ], "gold_answer": "Schwannoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08284", "question": "What is associated with Transillumination test shows high light transmission?", "seeds": [ "Transillumination test shows high light transmission" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08285", "question": "What is associated with Pretibial blistering?", "seeds": [ "Pretibial blistering" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08286", "question": "What is associated with Abnormality of the hypothenar eminence?", "seeds": [ "Abnormality of the hypothenar eminence" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08287", "question": "What phenotype is associated with Opticocochleodentate degeneration?", "seeds": [ "Opticocochleodentate degeneration" ], "gold_answer": "Visual loss", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08288", "question": "What is associated with Carey-Fineman-Ziter syndrome 2?", "seeds": [ "Carey-Fineman-Ziter syndrome 2" ], "gold_answer": "Narrow palate", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08289", "question": "What is associated with Thyrotoxicosis with diffuse goiter?", "seeds": [ "Thyrotoxicosis with diffuse goiter" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08290", "question": "What is associated with Spastic paraparesis and deafness?", "seeds": [ "Spastic paraparesis and deafness" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08291", "question": "What is associated with Cervix cancer?", "seeds": [ "Cervix cancer" ], "gold_answer": "Cervical neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08292", "question": "What phenotype is associated with Hypotrichosis 12?", "seeds": [ "Hypotrichosis 12" ], "gold_answer": "Sparse axillary hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08293", "question": "What is associated with Everted upper lip vermilion?", "seeds": [ "Everted upper lip vermilion" ], "gold_answer": "Abnormality of upper lip vermillion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08294", "question": "What is associated with Alport syndrome, X-linked?", "seeds": [ "Alport syndrome, X-linked" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08295", "question": "What is associated with Abnormal dura mater morphology?", "seeds": [ "Abnormal dura mater morphology" ], "gold_answer": "Abnormal meningeal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08296", "question": "What is associated with Complete breech presentation?", "seeds": [ "Complete breech presentation" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08297", "question": "What phenotype is associated with Drug reaction with eosinophilia and systemic symptoms?", "seeds": [ "Drug reaction with eosinophilia and systemic symptoms" ], "gold_answer": "Weight loss", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08298", "question": "What is associated with Anti-GM4 antibody positivity?", "seeds": [ "Anti-GM4 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08299", "question": "What is associated with Hypogonadotropic hypogonadism 22 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 22 with or without anosmia" ], "gold_answer": "External genital hypoplasia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08300", "question": "What is associated with Costovertebral angle tenderness?", "seeds": [ "Costovertebral angle tenderness" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08301", "question": "What is associated with Ultra-low vision with no light perception?", "seeds": [ "Ultra-low vision with no light perception" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08302", "question": "What is associated with Abnormality of the urethra?", "seeds": [ "Abnormality of the urethra" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08303", "question": "What is associated with Moyamoya disease 7?", "seeds": [ "Moyamoya disease 7" ], "gold_answer": "Weakness due to upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08304", "question": "What is associated with Neuritis?", "seeds": [ "Neuritis" ], "gold_answer": "Abnormal peripheral nervous system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08305", "question": "What phenotype is associated with TMEM70-related mitochondrial encephalo-cardio-myopathy?", "seeds": [ "TMEM70-related mitochondrial encephalo-cardio-myopathy" ], "gold_answer": "Abnormal aortic valve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08306", "question": "What is associated with Cold-Induced sweating syndrome 2?", "seeds": [ "Cold-Induced sweating syndrome 2" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08307", "question": "What is associated with Myopathy with exercise intolerance, Swedish type?", "seeds": [ "Myopathy with exercise intolerance, Swedish type" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08308", "question": "What is associated with ACTH-independent macronodular adrenal hyperplasia?", "seeds": [ "ACTH-independent macronodular adrenal hyperplasia" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08309", "question": "What is associated with Recurrent cystitis?", "seeds": [ "Recurrent cystitis" ], "gold_answer": "Recurrent urinary tract infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08310", "question": "What phenotype is associated with Dystonia 32?", "seeds": [ "Dystonia 32" ], "gold_answer": "Limb dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08311", "question": "What is associated with Focal impaired awareness head nodding automatism seizure?", "seeds": [ "Focal impaired awareness head nodding automatism seizure" ], "gold_answer": "Focal impaired awareness seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08312", "question": "What is associated with Curvilinear subcortical heterotopia?", "seeds": [ "Curvilinear subcortical heterotopia" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08313", "question": "What is associated with Decreased platelet glycoprotein Ib-IX-V?", "seeds": [ "Decreased platelet glycoprotein Ib-IX-V" ], "gold_answer": "Abnormality of thrombocytes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08314", "question": "What is associated with Congenital disorder of glycosylation, type IIh?", "seeds": [ "Congenital disorder of glycosylation, type IIh" ], "gold_answer": "Abnormal femoral neck morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08315", "question": "What is associated with Juvenile temporal arteritis?", "seeds": [ "Juvenile temporal arteritis" ], "gold_answer": "Immunologic hypersensitivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08316", "question": "What is associated with Isolated atrial standstill?", "seeds": [ "Isolated atrial standstill" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08317", "question": "What phenotype is associated with Autosomal dominant mitochondrial myopathy with exercise intolerance?", "seeds": [ "Autosomal dominant mitochondrial myopathy with exercise intolerance" ], "gold_answer": "Neck flexor weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08318", "question": "What is associated with Entamoeba histolytica antibody positive in stool?", "seeds": [ "Entamoeba histolytica antibody positive in stool" ], "gold_answer": "Positive stool infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08319", "question": "What is associated with Aplasia of the proximal phalanx of the 2nd finger?", "seeds": [ "Aplasia of the proximal phalanx of the 2nd finger" ], "gold_answer": "Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08320", "question": "What is associated with Absent radius-anogenital anomalies syndrome?", "seeds": [ "Absent radius-anogenital anomalies syndrome" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08321", "question": "What is associated with Reduced granulocyte CD59 level?", "seeds": [ "Reduced granulocyte CD59 level" ], "gold_answer": "Reduced granulocyte surface marker level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08322", "question": "What is associated with Benign Samaritan congenital myopathy?", "seeds": [ "Benign Samaritan congenital myopathy" ], "gold_answer": "Abnormality of mouth size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08323", "question": "What is associated with Proximal tubulopathy?", "seeds": [ "Proximal tubulopathy" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08324", "question": "What is associated with Neuronopathy, distal hereditary motor, type IID?", "seeds": [ "Neuronopathy, distal hereditary motor, type IID" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08325", "question": "What phenotype is associated with Spinocerebellar ataxia type 41?", "seeds": [ "Spinocerebellar ataxia type 41" ], "gold_answer": "Gait ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08326", "question": "What phenotype is associated with Immunodeficiency 59 and hypoglycemia?", "seeds": [ "Immunodeficiency 59 and hypoglycemia" ], "gold_answer": "Arteritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08327", "question": "What is associated with Absent epiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Absent epiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Abnormality of the epiphysis of the middle phalanx of the 4th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08328", "question": "What is associated with Autosomal recessive cutis laxa type 2A?", "seeds": [ "Autosomal recessive cutis laxa type 2A" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08329", "question": "What is associated with Functional motor deficit?", "seeds": [ "Functional motor deficit" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08330", "question": "What is associated with Postexertional symptom exacerbation?", "seeds": [ "Postexertional symptom exacerbation" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08331", "question": "What is associated with Localized to the lower eyelid?", "seeds": [ "Localized to the lower eyelid" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08332", "question": "What is associated with Flexion contracture?", "seeds": [ "Flexion contracture" ], "gold_answer": "Joint contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08333", "question": "What phenotype is associated with Kaposiform lymphangiomatosis?", "seeds": [ "Kaposiform lymphangiomatosis" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08334", "question": "What is associated with Abnormal antitragus morphology?", "seeds": [ "Abnormal antitragus morphology" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08335", "question": "What is associated with Arterial calcification?", "seeds": [ "Arterial calcification" ], "gold_answer": "Cardiovascular calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08336", "question": "What is associated with Triangular epiphyses of the 4th finger?", "seeds": [ "Triangular epiphyses of the 4th finger" ], "gold_answer": "Triangular epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08337", "question": "What is associated with Fibromatosis, gingival, 1?", "seeds": [ "Fibromatosis, gingival, 1" ], "gold_answer": "Soft tissue sarcoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08338", "question": "What phenotype is associated with Spastic paraplegia 9B, autosomal recessive?", "seeds": [ "Spastic paraplegia 9B, autosomal recessive" ], "gold_answer": "Absent speech", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08339", "question": "What is associated with Abnormality of the epiphysis of the middle phalanx of the 2nd toe?", "seeds": [ "Abnormality of the epiphysis of the middle phalanx of the 2nd toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08340", "question": "What is associated with Open comedo?", "seeds": [ "Open comedo" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08341", "question": "What is associated with Triangular shaped proximal phalanx of the 2nd finger?", "seeds": [ "Triangular shaped proximal phalanx of the 2nd finger" ], "gold_answer": "Triangular shaped proximal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08342", "question": "What is associated with Abnormal liver sonography?", "seeds": [ "Abnormal liver sonography" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08343", "question": "What is associated with Abnormal ventricular filling?", "seeds": [ "Abnormal ventricular filling" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08344", "question": "What is associated with Syndactyly-Polydactyly-Earlobe syndrome?", "seeds": [ "Syndactyly-Polydactyly-Earlobe syndrome" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08345", "question": "What is associated with Facial expressions not directed to others?", "seeds": [ "Facial expressions not directed to others" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08346", "question": "What phenotype is associated with Tatton-Brown-Rahman syndrome?", "seeds": [ "Tatton-Brown-Rahman syndrome" ], "gold_answer": "Short toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08347", "question": "What is associated with Abnormal septum pellucidum morphology?", "seeds": [ "Abnormal septum pellucidum morphology" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08348", "question": "What is associated with Abnormality of the thyroid gland?", "seeds": [ "Abnormality of the thyroid gland" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08349", "question": "What is associated with Sonographic non-visualized fetal bladder?", "seeds": [ "Sonographic non-visualized fetal bladder" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08350", "question": "What phenotype is associated with Amyloidosis, cutaneous bullous?", "seeds": [ "Amyloidosis, cutaneous bullous" ], "gold_answer": "Amyloid deposition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08351", "question": "What is associated with Migratory erythematous plaque?", "seeds": [ "Migratory erythematous plaque" ], "gold_answer": "Erythema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08352", "question": "What is associated with Gombo syndrome?", "seeds": [ "Gombo syndrome" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08353", "question": "What is associated with Increased CSF D-threitol concentration?", "seeds": [ "Increased CSF D-threitol concentration" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08354", "question": "What is associated with Hypoplasia of facial musculature?", "seeds": [ "Hypoplasia of facial musculature" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08355", "question": "What phenotype is associated with NTHL1-related polyposis?", "seeds": [ "NTHL1-related polyposis" ], "gold_answer": "Non-Hodgkin lymphoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08356", "question": "What is associated with Abnormality of the epiphysis of the middle phalanx of the 3rd toe?", "seeds": [ "Abnormality of the epiphysis of the middle phalanx of the 3rd toe" ], "gold_answer": "Abnormality of the epiphyses of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08357", "question": "What phenotype is associated with Triphalangeal thumb-polysyndactyly syndrome?", "seeds": [ "Triphalangeal thumb-polysyndactyly syndrome" ], "gold_answer": "Preaxial hand polydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08358", "question": "What is associated with Abnormal ventriculoarterial connection?", "seeds": [ "Abnormal ventriculoarterial connection" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08359", "question": "What phenotype is associated with Fetal valproate spectrum disorder?", "seeds": [ "Fetal valproate spectrum disorder" ], "gold_answer": "Narrow mouth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08360", "question": "What is associated with Partial absence of specific antibody response to unconjugated pneumococcus vaccine?", "seeds": [ "Partial absence of specific antibody response to unconjugated pneumococcus vaccine" ], "gold_answer": "Decreased specific antibody response to polysaccharide vaccine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08361", "question": "What is associated with Abnormal ulnar epiphysis morphology?", "seeds": [ "Abnormal ulnar epiphysis morphology" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08362", "question": "What is associated with Squamous metaplasia?", "seeds": [ "Squamous metaplasia" ], "gold_answer": "Histopathological abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08363", "question": "What is associated with Ameliorated by acetazolamide?", "seeds": [ "Ameliorated by acetazolamide" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08364", "question": "What is associated with Abnormal total natural killer cell count?", "seeds": [ "Abnormal total natural killer cell count" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08365", "question": "What is associated with Fulminant hepatitis?", "seeds": [ "Fulminant hepatitis" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08366", "question": "What is associated with Nonossified fifth metatarsal?", "seeds": [ "Nonossified fifth metatarsal" ], "gold_answer": "Abnormal metatarsal ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08367", "question": "What is associated with Splenic hemophagocytosis?", "seeds": [ "Splenic hemophagocytosis" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08368", "question": "What is associated with Congenital tricuspid valve dysplasia?", "seeds": [ "Congenital tricuspid valve dysplasia" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08369", "question": "What is associated with Cervical (neck)?", "seeds": [ "Cervical (neck)" ], "gold_answer": "Localized", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08370", "question": "What is associated with Broad 3rd toe?", "seeds": [ "Broad 3rd toe" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08371", "question": "What phenotype is associated with Macular dystrophy, vitelliform, 4?", "seeds": [ "Macular dystrophy, vitelliform, 4" ], "gold_answer": "Drusen", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08372", "question": "What is associated with Premature epimetaphyseal fusion in fibula?", "seeds": [ "Premature epimetaphyseal fusion in fibula" ], "gold_answer": "Premature epimetaphyseal fusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08373", "question": "What is associated with Ectopic respiratory mucosa?", "seeds": [ "Ectopic respiratory mucosa" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08374", "question": "What phenotype is associated with Flat face-microstomia-ear anomaly syndrome?", "seeds": [ "Flat face-microstomia-ear anomaly syndrome" ], "gold_answer": "Inguinal hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08375", "question": "What phenotype is associated with Immunodeficiency 19?", "seeds": [ "Immunodeficiency 19" ], "gold_answer": "Decreased total T cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08376", "question": "What is associated with Velo-facial-skeletal syndrome?", "seeds": [ "Velo-facial-skeletal syndrome" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08377", "question": "What is associated with Recurrent bacterial skin infections?", "seeds": [ "Recurrent bacterial skin infections" ], "gold_answer": "Recurrent skin infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08378", "question": "What is associated with Sloping forehead?", "seeds": [ "Sloping forehead" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08379", "question": "What is associated with Highly elevated creatine kinase?", "seeds": [ "Highly elevated creatine kinase" ], "gold_answer": "Elevated circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08380", "question": "What is associated with Histiocytosis-lymphadenopathy plus syndrome?", "seeds": [ "Histiocytosis-lymphadenopathy plus syndrome" ], "gold_answer": "Hypopituitarism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08381", "question": "What is associated with Open neural tube defect?", "seeds": [ "Open neural tube defect" ], "gold_answer": "Abnormal neural tube morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08382", "question": "What is associated with Deviation of finger?", "seeds": [ "Deviation of finger" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08383", "question": "What is associated with Unilateral radial aplasia?", "seeds": [ "Unilateral radial aplasia" ], "gold_answer": "Abnormal morphology of the radius", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08384", "question": "What is associated with Primary dystonia, DYT21 type?", "seeds": [ "Primary dystonia, DYT21 type" ], "gold_answer": "Dysphonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08385", "question": "What is associated with Absent zona pellucida?", "seeds": [ "Absent zona pellucida" ], "gold_answer": "Abnormal cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08386", "question": "What is associated with Centronuclear myopathy 1?", "seeds": [ "Centronuclear myopathy 1" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08387", "question": "What is associated with Epidermolytic palmoplantar keratoderma?", "seeds": [ "Epidermolytic palmoplantar keratoderma" ], "gold_answer": "Abnormality of the plantar skin of foot", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08388", "question": "What is associated with Preauricular skin tag?", "seeds": [ "Preauricular skin tag" ], "gold_answer": "Abnormal periauricular region morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08389", "question": "What is associated with Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome?", "seeds": [ "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08390", "question": "What is associated with Spermatogenic failure, X-linked, 5?", "seeds": [ "Spermatogenic failure, X-linked, 5" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08391", "question": "What is associated with Short distal phalanx of the 4th finger?", "seeds": [ "Short distal phalanx of the 4th finger" ], "gold_answer": "Abnormal 4th finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08392", "question": "What is associated with Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion?", "seeds": [ "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion" ], "gold_answer": "Abnormality of the philtrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08393", "question": "What is associated with Increased circulating very long-chain fatty acid concentration?", "seeds": [ "Increased circulating very long-chain fatty acid concentration" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08394", "question": "What is associated with Protruding tongue?", "seeds": [ "Protruding tongue" ], "gold_answer": "Abnormality of the tongue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08395", "question": "What is associated with Alzheimer disease 2?", "seeds": [ "Alzheimer disease 2" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08396", "question": "What is associated with Shukla-Vernon syndrome?", "seeds": [ "Shukla-Vernon syndrome" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08397", "question": "What is associated with Lipomas of eyelids?", "seeds": [ "Lipomas of eyelids" ], "gold_answer": "Lipoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08398", "question": "What is associated with Cardiofaciocutaneous syndrome 1?", "seeds": [ "Cardiofaciocutaneous syndrome 1" ], "gold_answer": "Hemangioma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08399", "question": "What is associated with Abnormal Humphrey SITA 10-2 perimetry test?", "seeds": [ "Abnormal Humphrey SITA 10-2 perimetry test" ], "gold_answer": "Abnormal static automated perimetry test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08400", "question": "What is associated with Xeroderma pigmentosum, variant type?", "seeds": [ "Xeroderma pigmentosum, variant type" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08401", "question": "What is associated with Intestinal lymphoid nodular hyperplasia?", "seeds": [ "Intestinal lymphoid nodular hyperplasia" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08402", "question": "What is associated with Abnormal CSF branched chain amino acid concentration?", "seeds": [ "Abnormal CSF branched chain amino acid concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08403", "question": "What is associated with Palate telangiectasia?", "seeds": [ "Palate telangiectasia" ], "gold_answer": "Telangiectasia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08404", "question": "What is associated with Unilateral facial palsy?", "seeds": [ "Unilateral facial palsy" ], "gold_answer": "Facial palsy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08405", "question": "What is associated with Enlarged epiphysis of the proximal phalanx of the 2nd finger?", "seeds": [ "Enlarged epiphysis of the proximal phalanx of the 2nd finger" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08406", "question": "What is associated with Abnormal gamma-delta T cell proportion?", "seeds": [ "Abnormal gamma-delta T cell proportion" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08407", "question": "What is associated with Lipoatrophy?", "seeds": [ "Lipoatrophy" ], "gold_answer": "Lipodystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08408", "question": "What is associated with Aplasia of the vestibular nerve?", "seeds": [ "Aplasia of the vestibular nerve" ], "gold_answer": "Abnormal inner ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08409", "question": "What is associated with Anti-MAP1B antibody?", "seeds": [ "Anti-MAP1B antibody" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08410", "question": "What is associated with Duplication of the proximal phalanx of the 2nd finger?", "seeds": [ "Duplication of the proximal phalanx of the 2nd finger" ], "gold_answer": "Mesoaxial hand polydactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08411", "question": "What is associated with Combined oxidative phosphorylation deficiency 43?", "seeds": [ "Combined oxidative phosphorylation deficiency 43" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08412", "question": "What is associated with Decreased biparietal diameter?", "seeds": [ "Decreased biparietal diameter" ], "gold_answer": "Abnormal biparietal diameter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08413", "question": "What is associated with Dyslexia, susceptibility to, 8?", "seeds": [ "Dyslexia, susceptibility to, 8" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08414", "question": "What is associated with Aortic aneurysm, familial thoracic 10?", "seeds": [ "Aortic aneurysm, familial thoracic 10" ], "gold_answer": "Aortic aneurysm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08415", "question": "What is associated with Cyanotic episode?", "seeds": [ "Cyanotic episode" ], "gold_answer": "Cyanosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08416", "question": "What is associated with Thought echo?", "seeds": [ "Thought echo" ], "gold_answer": "Disordered formal thought process", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08417", "question": "What is associated with Foveal degeneration?", "seeds": [ "Foveal degeneration" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08418", "question": "What is associated with Elevated brain glutamine level by MRS?", "seeds": [ "Elevated brain glutamine level by MRS" ], "gold_answer": "Abnormal metabolic brain imaging by MRS", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08419", "question": "What phenotype is associated with Schizophrenia 3?", "seeds": [ "Schizophrenia 3" ], "gold_answer": "Schizophrenia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08420", "question": "What is associated with Decreased circulating vitamin B8 concentration?", "seeds": [ "Decreased circulating vitamin B8 concentration" ], "gold_answer": "Abnormality of vitamin metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08421", "question": "What is associated with Parotitis?", "seeds": [ "Parotitis" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08422", "question": "What is associated with Pancreatic cancer, susceptibility to, 1?", "seeds": [ "Pancreatic cancer, susceptibility to, 1" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08423", "question": "What is associated with Hereditary painful callosities?", "seeds": [ "Hereditary painful callosities" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08424", "question": "What is associated with Dystrophic epidermolysis bullosa pruriginosa?", "seeds": [ "Dystrophic epidermolysis bullosa pruriginosa" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08425", "question": "What is associated with Reduced MHC II cell surface expression?", "seeds": [ "Reduced MHC II cell surface expression" ], "gold_answer": "Abnormal MHC surface expression", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08426", "question": "What is associated with Sebaceous gland hyperplasia, familial presenile?", "seeds": [ "Sebaceous gland hyperplasia, familial presenile" ], "gold_answer": "Abnormal sebaceous gland morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08427", "question": "What is associated with Congenital lobar overinflation?", "seeds": [ "Congenital lobar overinflation" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08428", "question": "What is associated with Spondyloepiphyseal dysplasia congenita?", "seeds": [ "Spondyloepiphyseal dysplasia congenita" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08429", "question": "What is associated with Progressive leg bowing?", "seeds": [ "Progressive leg bowing" ], "gold_answer": "Bowing of the long bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08430", "question": "What phenotype is associated with Heme oxygenase-1 deficiency?", "seeds": [ "Heme oxygenase-1 deficiency" ], "gold_answer": "Hepatomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08431", "question": "What is associated with Fragmentation of the epiphysis of the middle phalanx of the 2nd finger?", "seeds": [ "Fragmentation of the epiphysis of the middle phalanx of the 2nd finger" ], "gold_answer": "Fragmentation of the epiphyses of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08432", "question": "What is associated with 17q11 microdeletion syndrome?", "seeds": [ "17q11 microdeletion syndrome" ], "gold_answer": "JAG1", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08433", "question": "What is associated with Deafness, autosomal dominant nonsyndromic sensorineural 49?", "seeds": [ "Deafness, autosomal dominant nonsyndromic sensorineural 49" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08434", "question": "What is associated with Idiopathic bilateral vestibulopathy?", "seeds": [ "Idiopathic bilateral vestibulopathy" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08435", "question": "What is associated with Triphalangeal thumb with double phalanges?", "seeds": [ "Triphalangeal thumb with double phalanges" ], "gold_answer": "Complete duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08436", "question": "What is associated with Increased airway neuroendocrine cells?", "seeds": [ "Increased airway neuroendocrine cells" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08437", "question": "What is associated with Anti-Epstein-Barr virus-specific antibody positivity?", "seeds": [ "Anti-Epstein-Barr virus-specific antibody positivity" ], "gold_answer": "Bloodstream virus-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08438", "question": "What phenotype is associated with Developmental delay with short stature, dysmorphic facial features, and sparse hair 2?", "seeds": [ "Developmental delay with short stature, dysmorphic facial features, and sparse hair 2" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08439", "question": "What is associated with Hypertrichotic hyperpigmented patch?", "seeds": [ "Hypertrichotic hyperpigmented patch" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08440", "question": "What is associated with Abnormal sacral segmentation?", "seeds": [ "Abnormal sacral segmentation" ], "gold_answer": "Vertebral segmentation defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08441", "question": "What is associated with Autosomal dominant adult-onset proximal spinal muscular atrophy?", "seeds": [ "Autosomal dominant adult-onset proximal spinal muscular atrophy" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08442", "question": "What is associated with Primary dystonia, DYT27 type?", "seeds": [ "Primary dystonia, DYT27 type" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08443", "question": "What is associated with Thin corpus callosum?", "seeds": [ "Thin corpus callosum" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08444", "question": "What phenotype is associated with Deafness, autosomal recessive 18B?", "seeds": [ "Deafness, autosomal recessive 18B" ], "gold_answer": "Vestibular hyporeflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08445", "question": "What is associated with Ectopic thymus tissue?", "seeds": [ "Ectopic thymus tissue" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08446", "question": "What is associated with Ureteral polyp?", "seeds": [ "Ureteral polyp" ], "gold_answer": "Neoplasm of the genitourinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08447", "question": "What is associated with Hyperchromasia of renal tubular epithelial cells?", "seeds": [ "Hyperchromasia of renal tubular epithelial cells" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08448", "question": "What is associated with Decreased circulating hydroxyproline concentration?", "seeds": [ "Decreased circulating hydroxyproline concentration" ], "gold_answer": "Abnormal circulating proline concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08449", "question": "What is associated with Appendiceal mucinous neoplasm?", "seeds": [ "Appendiceal mucinous neoplasm" ], "gold_answer": "Glandular cell neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08450", "question": "What is associated with Holocarboxylase synthetase deficiency?", "seeds": [ "Holocarboxylase synthetase deficiency" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08451", "question": "What is associated with Fetal cyclophosphamide exposure?", "seeds": [ "Fetal cyclophosphamide exposure" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08452", "question": "What is associated with Increased urinary zinc level?", "seeds": [ "Increased urinary zinc level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08453", "question": "What is associated with Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset?", "seeds": [ "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08454", "question": "What is associated with Skin tenting due to fracture?", "seeds": [ "Skin tenting due to fracture" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08455", "question": "What is associated with Abnormality of glycosaminoglycan metabolism?", "seeds": [ "Abnormality of glycosaminoglycan metabolism" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08456", "question": "What is associated with Tan-Almurshedi syndrome?", "seeds": [ "Tan-Almurshedi syndrome" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08457", "question": "What is associated with Hypotrichosis-intellectual disability, Lopes type?", "seeds": [ "Hypotrichosis-intellectual disability, Lopes type" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08458", "question": "What is associated with Acrorenal syndrome?", "seeds": [ "Acrorenal syndrome" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08459", "question": "What is associated with Asymmetric blood pressure between arms?", "seeds": [ "Asymmetric blood pressure between arms" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08460", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, X-linked dominant, 6?", "seeds": [ "Charcot-Marie-Tooth disease, X-linked dominant, 6" ], "gold_answer": "Distal lower limb amyotrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08461", "question": "What phenotype is associated with Myopathy, sarcoplasmic body?", "seeds": [ "Myopathy, sarcoplasmic body" ], "gold_answer": "Weakness of the intrinsic hand muscles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08462", "question": "What is associated with Edema?", "seeds": [ "Edema" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08463", "question": "What phenotype is associated with Hypoparathyroidism-sensorineural deafness-renal disease syndrome?", "seeds": [ "Hypoparathyroidism-sensorineural deafness-renal disease syndrome" ], "gold_answer": "Vaginal atresia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08464", "question": "What is associated with Ankle swelling?", "seeds": [ "Ankle swelling" ], "gold_answer": "Abnormality of the ankle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08465", "question": "What is associated with Alaninuria?", "seeds": [ "Alaninuria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08466", "question": "What is associated with Decreased iduronate sulfatase level?", "seeds": [ "Decreased iduronate sulfatase level" ], "gold_answer": "Abnormal iduronate sulfatase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08467", "question": "What is associated with Profound hearing impairment?", "seeds": [ "Profound hearing impairment" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08468", "question": "What phenotype is associated with Cranial nerves, congenital paresis of?", "seeds": [ "Cranial nerves, congenital paresis of" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08469", "question": "What is associated with Mycobacterial and viral infections, susceptibility to, autosomal recessive?", "seeds": [ "Mycobacterial and viral infections, susceptibility to, autosomal recessive" ], "gold_answer": "Infectious encephalitis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08470", "question": "What is associated with Cone-shaped epiphyses of the hallux?", "seeds": [ "Cone-shaped epiphyses of the hallux" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08471", "question": "What phenotype is associated with Mitochondrial DNA depletion syndrome 2 (myopathic type)?", "seeds": [ "Mitochondrial DNA depletion syndrome 2 (myopathic type)" ], "gold_answer": "Decreased activity of mitochondrial ATP synthase complex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08472", "question": "What is associated with Recurrent infection of the gastrointestinal tract?", "seeds": [ "Recurrent infection of the gastrointestinal tract" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08473", "question": "What is associated with Widened cerebellar subarachnoid space?", "seeds": [ "Widened cerebellar subarachnoid space" ], "gold_answer": "Widened subarachnoid space", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08474", "question": "What is associated with Spastic ataxia 11, autosomal dominant?", "seeds": [ "Spastic ataxia 11, autosomal dominant" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08475", "question": "What is associated with Spinocerebellar ataxia 23?", "seeds": [ "Spinocerebellar ataxia 23" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08476", "question": "What is associated with Bifid antitragus?", "seeds": [ "Bifid antitragus" ], "gold_answer": "Abnormal antitragus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08477", "question": "What is associated with Short stature-delayed bone age due to thyroid hormone metabolism deficiency?", "seeds": [ "Short stature-delayed bone age due to thyroid hormone metabolism deficiency" ], "gold_answer": "Proximal muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08478", "question": "What is associated with Posterior corneal stroma punctiform multicolored opacities?", "seeds": [ "Posterior corneal stroma punctiform multicolored opacities" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08479", "question": "What is associated with Ciliary dyskinesia, primary, 28?", "seeds": [ "Ciliary dyskinesia, primary, 28" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08480", "question": "What is associated with Increased mean platelet volume?", "seeds": [ "Increased mean platelet volume" ], "gold_answer": "Abnormality of thrombocytes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08481", "question": "What is associated with Abnormality of coordination?", "seeds": [ "Abnormality of coordination" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08482", "question": "What phenotype is associated with Autosomal recessive palmoplantar keratoderma and congenital alopecia?", "seeds": [ "Autosomal recessive palmoplantar keratoderma and congenital alopecia" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08483", "question": "What is associated with Nemaline myopathy 5C, autosomal dominant?", "seeds": [ "Nemaline myopathy 5C, autosomal dominant" ], "gold_answer": "Abnormal scapula morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08484", "question": "What phenotype is associated with Macrocephaly, alopecia, cutis laxa, and scoliosis?", "seeds": [ "Macrocephaly, alopecia, cutis laxa, and scoliosis" ], "gold_answer": "Palpebral edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08485", "question": "What is associated with Pulmonary situs ambiguus with bilateral morphologic left lungs?", "seeds": [ "Pulmonary situs ambiguus with bilateral morphologic left lungs" ], "gold_answer": "Abnormal pulmonary situs morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08486", "question": "What is associated with Prominent nasolabial fold?", "seeds": [ "Prominent nasolabial fold" ], "gold_answer": "Abnormal nasolabial region morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08487", "question": "What is associated with Diaphragmatic eventration?", "seeds": [ "Diaphragmatic eventration" ], "gold_answer": "Abnormality of the diaphragm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08488", "question": "What is associated with Isolated focal cortical dysplasia type IIb?", "seeds": [ "Isolated focal cortical dysplasia type IIb" ], "gold_answer": "TSC2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_08489", "question": "What phenotype is associated with Deafness, autosomal recessive 53?", "seeds": [ "Deafness, autosomal recessive 53" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08490", "question": "What is associated with Abnormality of the epiphysis of the distal phalanx of the 3rd finger?", "seeds": [ "Abnormality of the epiphysis of the distal phalanx of the 3rd finger" ], "gold_answer": "Abnormal 3rd finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08491", "question": "What is associated with Warburg micro syndrome 3?", "seeds": [ "Warburg micro syndrome 3" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08492", "question": "What is associated with Postprandial fullness?", "seeds": [ "Postprandial fullness" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08493", "question": "What is associated with DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION?", "seeds": [ "DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION" ], "gold_answer": "Abnormal duodenum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08494", "question": "What is associated with Osteogenesis imperfecta, type XXIII?", "seeds": [ "Osteogenesis imperfecta, type XXIII" ], "gold_answer": "Abnormal femoral head morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08495", "question": "What is associated with Increased circulating interleukin 1beta concentration?", "seeds": [ "Increased circulating interleukin 1beta concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08496", "question": "What is associated with Abnormal HLA DR+ CD8+ T cell proportion?", "seeds": [ "Abnormal HLA DR+ CD8+ T cell proportion" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08497", "question": "What is associated with Poliomyelitis?", "seeds": [ "Poliomyelitis" ], "gold_answer": "Abnormal nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08498", "question": "What is associated with Neonatal multifocal clonic seizure?", "seeds": [ "Neonatal multifocal clonic seizure" ], "gold_answer": "Neonatal electro-clinical motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08499", "question": "What is associated with Thyroid atypical adenoma?", "seeds": [ "Thyroid atypical adenoma" ], "gold_answer": "Neoplasm of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08500", "question": "What is associated with Cataract 13 with adult i phenotype?", "seeds": [ "Cataract 13 with adult i phenotype" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08501", "question": "What is associated with Comedo?", "seeds": [ "Comedo" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08502", "question": "What phenotype is associated with Van den bosch syndrome?", "seeds": [ "Van den bosch syndrome" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08503", "question": "What is associated with Asymmetry of the position of the ears?", "seeds": [ "Asymmetry of the position of the ears" ], "gold_answer": "Asymmetry of the ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08504", "question": "What is associated with Hyperserinemia?", "seeds": [ "Hyperserinemia" ], "gold_answer": "Abnormal circulating serine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08505", "question": "What is associated with Pulmonary artery hypoplasia?", "seeds": [ "Pulmonary artery hypoplasia" ], "gold_answer": "Abnormality of the pulmonary vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08506", "question": "What is associated with Histiocytosis-lymphadenopathy plus syndrome?", "seeds": [ "Histiocytosis-lymphadenopathy plus syndrome" ], "gold_answer": "Abnormal morphology of the nasal alae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08507", "question": "What is associated with Subretinal hemorrhage?", "seeds": [ "Subretinal hemorrhage" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08508", "question": "What phenotype is associated with Hyperparathyroidism, neonatal severe?", "seeds": [ "Hyperparathyroidism, neonatal severe" ], "gold_answer": "Hypercalciuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08509", "question": "What is associated with Chronic recurrent multifocal osteomyelitis?", "seeds": [ "Chronic recurrent multifocal osteomyelitis" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08510", "question": "What is associated with Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome?", "seeds": [ "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08511", "question": "What is associated with Vascular dilatation?", "seeds": [ "Vascular dilatation" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08512", "question": "What is associated with Indomethacin embryofetopathy?", "seeds": [ "Indomethacin embryofetopathy" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08513", "question": "What is associated with Vesicoallantoic abdominal wall defect?", "seeds": [ "Vesicoallantoic abdominal wall defect" ], "gold_answer": "Abnormal bladder morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08514", "question": "What is associated with Bronchogenic cyst?", "seeds": [ "Bronchogenic cyst" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08515", "question": "What is associated with Idiopathic aplastic anemia?", "seeds": [ "Idiopathic aplastic anemia" ], "gold_answer": "TERT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_08516", "question": "What is associated with Intellectual disability?", "seeds": [ "Intellectual disability" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08517", "question": "What is associated with Nasal flaring?", "seeds": [ "Nasal flaring" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08518", "question": "What is associated with Vaginal birth after Caesarean?", "seeds": [ "Vaginal birth after Caesarean" ], "gold_answer": "Abnormal delivery", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08519", "question": "What phenotype is associated with Dopamine beta-hydroxylase deficiency?", "seeds": [ "Dopamine beta-hydroxylase deficiency" ], "gold_answer": "Hypoglycemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08520", "question": "What is associated with Ichthyosis, follicular, with atrichia and photophobia syndrome 2?", "seeds": [ "Ichthyosis, follicular, with atrichia and photophobia syndrome 2" ], "gold_answer": "Ichthyosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08521", "question": "What is associated with Aplastic/hypoplastic lacrimal glands?", "seeds": [ "Aplastic/hypoplastic lacrimal glands" ], "gold_answer": "Abnormal lacrimal gland morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08522", "question": "What is associated with Retinal dystrophy and microvillus inclusion disease?", "seeds": [ "Retinal dystrophy and microvillus inclusion disease" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08523", "question": "What is associated with Delusion?", "seeds": [ "Delusion" ], "gold_answer": "Abnormal cognitive process", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08524", "question": "What is associated with Infratentorial superficial CNS hemosiderin deposition?", "seeds": [ "Infratentorial superficial CNS hemosiderin deposition" ], "gold_answer": "Superficial CNS hemosiderin deposition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08525", "question": "What phenotype is associated with Saethre-Chotzen syndrome?", "seeds": [ "Saethre-Chotzen syndrome" ], "gold_answer": "Flat forehead", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08526", "question": "What is associated with Diminishment of relationship seeking?", "seeds": [ "Diminishment of relationship seeking" ], "gold_answer": "Abnormal change in social behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08527", "question": "What is associated with Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy?", "seeds": [ "Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08528", "question": "What phenotype is associated with Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation?", "seeds": [ "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08529", "question": "What is associated with Spinocerebellar ataxia type 19/22?", "seeds": [ "Spinocerebellar ataxia type 19/22" ], "gold_answer": "Impaired vibratory sensation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08530", "question": "What is associated with Aplasia of the proximal phalanx of the 2nd finger?", "seeds": [ "Aplasia of the proximal phalanx of the 2nd finger" ], "gold_answer": "Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08531", "question": "What is associated with Abnormal arcuate vein intima/media morphology?", "seeds": [ "Abnormal arcuate vein intima/media morphology" ], "gold_answer": "Abnormal arcuate vein morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08532", "question": "What is associated with Abnormal muscle fiber laminin beta 1?", "seeds": [ "Abnormal muscle fiber laminin beta 1" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08533", "question": "What is associated with Large radial epiphyses?", "seeds": [ "Large radial epiphyses" ], "gold_answer": "Enlarged epiphyses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08534", "question": "What is associated with Low neutrophil alkaline phosphatase?", "seeds": [ "Low neutrophil alkaline phosphatase" ], "gold_answer": "Abnormality of alkaline phosphatase level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08535", "question": "What is associated with Fractured epiphysis of third metacarpal bone?", "seeds": [ "Fractured epiphysis of third metacarpal bone" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08536", "question": "What is associated with Reverse typical atrial flutter?", "seeds": [ "Reverse typical atrial flutter" ], "gold_answer": "Atrial arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08537", "question": "What is associated with Pain at the medial aspect of the knee?", "seeds": [ "Pain at the medial aspect of the knee" ], "gold_answer": "Knee pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08538", "question": "What is associated with Diabetes mellitus, insulin-dependent, 2?", "seeds": [ "Diabetes mellitus, insulin-dependent, 2" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08539", "question": "What is associated with Deafness, autosomal recessive 1B?", "seeds": [ "Deafness, autosomal recessive 1B" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08540", "question": "What is associated with Abnormality of the pulmonary veins?", "seeds": [ "Abnormality of the pulmonary veins" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08541", "question": "What is associated with Severe giardiasis?", "seeds": [ "Severe giardiasis" ], "gold_answer": "Unusual protozoan infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08542", "question": "What is associated with Septic embolism?", "seeds": [ "Septic embolism" ], "gold_answer": "Abnormal thrombosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08543", "question": "What is associated with Increased fetal movement?", "seeds": [ "Increased fetal movement" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08544", "question": "What phenotype is associated with Verrucous hemangioma?", "seeds": [ "Verrucous hemangioma" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08545", "question": "What is associated with Temple syndrome due to paternal 14q32.2 microdeletion?", "seeds": [ "Temple syndrome due to paternal 14q32.2 microdeletion" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08546", "question": "What is associated with Obesity and hypopigmentation?", "seeds": [ "Obesity and hypopigmentation" ], "gold_answer": "Abnormal consumption behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08547", "question": "What is associated with Microtia with meatal atresia and conductive deafness?", "seeds": [ "Microtia with meatal atresia and conductive deafness" ], "gold_answer": "Functional abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08548", "question": "What is associated with High-frequency hearing impairment?", "seeds": [ "High-frequency hearing impairment" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08549", "question": "What is associated with Peripheral arteriovenous fistula?", "seeds": [ "Peripheral arteriovenous fistula" ], "gold_answer": "Arteriovenous malformation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08550", "question": "What is associated with Small epiphysis of the middle phalanx of the 2nd finger?", "seeds": [ "Small epiphysis of the middle phalanx of the 2nd finger" ], "gold_answer": "Small epiphyses of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08551", "question": "What is associated with Urethral stricture?", "seeds": [ "Urethral stricture" ], "gold_answer": "Abnormality of the urethra", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08552", "question": "What is associated with Abnormal alpha granule content?", "seeds": [ "Abnormal alpha granule content" ], "gold_answer": "Abnormal alpha granules", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08553", "question": "What phenotype is associated with Dyskeratosis congenita, digenic?", "seeds": [ "Dyskeratosis congenita, digenic" ], "gold_answer": "Esophageal neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08554", "question": "What is associated with Increased CD8+ T cell proportion?", "seeds": [ "Increased CD8+ T cell proportion" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08555", "question": "What is associated with Keratosis palmoplantaris striata I?", "seeds": [ "Keratosis palmoplantaris striata I" ], "gold_answer": "Abnormality of skin adnexa physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08556", "question": "What is associated with Arthropathy?", "seeds": [ "Arthropathy" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08557", "question": "What is associated with Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration?", "seeds": [ "Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration" ], "gold_answer": "Focal aware non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08558", "question": "What is associated with Muscular dystrophy, limb-girdle, autosomal recessive 10?", "seeds": [ "Muscular dystrophy, limb-girdle, autosomal recessive 10" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08559", "question": "What is associated with Increased circulating interleukin 2 concentration?", "seeds": [ "Increased circulating interleukin 2 concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08560", "question": "What is associated with L-looping of the right ventricle?", "seeds": [ "L-looping of the right ventricle" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08561", "question": "What phenotype is associated with Neuroendocrine tumor of anal canal?", "seeds": [ "Neuroendocrine tumor of anal canal" ], "gold_answer": "Protracted diarrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08562", "question": "What is associated with Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb?", "seeds": [ "Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08563", "question": "What is associated with Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration?", "seeds": [ "Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08564", "question": "What is associated with Decreased DLCO?", "seeds": [ "Decreased DLCO" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08565", "question": "What phenotype is associated with MEDULLOBLASTOMA?", "seeds": [ "MEDULLOBLASTOMA" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08566", "question": "What is associated with Aplasia of the proximal phalanx of the 4th finger?", "seeds": [ "Aplasia of the proximal phalanx of the 4th finger" ], "gold_answer": "Finger aplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08567", "question": "What is associated with Frontotemporal dementia and/or amyotrophic lateral sclerosis 5?", "seeds": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 5" ], "gold_answer": "Abnormal superficial reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08568", "question": "What is associated with Heyn-Sproul-Jackson syndrome?", "seeds": [ "Heyn-Sproul-Jackson syndrome" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08569", "question": "What is associated with Bacteremia?", "seeds": [ "Bacteremia" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08570", "question": "What phenotype is associated with Epilepsy with auditory features?", "seeds": [ "Epilepsy with auditory features" ], "gold_answer": "Auditory hallucinations", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08571", "question": "What is associated with Abnormality of the phalanges of the 5th toe?", "seeds": [ "Abnormality of the phalanges of the 5th toe" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08572", "question": "What is associated with Bilateral basal ganglia lesions?", "seeds": [ "Bilateral basal ganglia lesions" ], "gold_answer": "Abnormal basal ganglia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08573", "question": "What is associated with Chondrodysplasia punctata, Tibia-Metacarpal type?", "seeds": [ "Chondrodysplasia punctata, Tibia-Metacarpal type" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08574", "question": "What phenotype is associated with Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies?", "seeds": [ "Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" ], "gold_answer": "Hyperactivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08575", "question": "What is associated with Sternocleidomastoid amyotrophy?", "seeds": [ "Sternocleidomastoid amyotrophy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08576", "question": "What phenotype is associated with Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome?", "seeds": [ "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" ], "gold_answer": "Wide nasal bridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08577", "question": "What is associated with Mild receptive language delay?", "seeds": [ "Mild receptive language delay" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08578", "question": "What is associated with Decreased circulating adenosylcobalamin concentration?", "seeds": [ "Decreased circulating adenosylcobalamin concentration" ], "gold_answer": "Abnormality of vitamin B12 metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08579", "question": "What is associated with Thick hair?", "seeds": [ "Thick hair" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08580", "question": "What is associated with Monoclonal elevation of IgG?", "seeds": [ "Monoclonal elevation of IgG" ], "gold_answer": "Increased circulating IgG concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08581", "question": "What is associated with Coronary artery fistula?", "seeds": [ "Coronary artery fistula" ], "gold_answer": "Abnormal coronary artery course", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08582", "question": "What is associated with Focal aware cognitive seizure with deja vu/jamais vu?", "seeds": [ "Focal aware cognitive seizure with deja vu/jamais vu" ], "gold_answer": "Focal aware non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08583", "question": "What phenotype is associated with Leukodystrophy, childhood-onset, remitting?", "seeds": [ "Leukodystrophy, childhood-onset, remitting" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08584", "question": "What is associated with Olivopontocerebellar atrophy?", "seeds": [ "Olivopontocerebellar atrophy" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08585", "question": "What is associated with Class I obesity?", "seeds": [ "Class I obesity" ], "gold_answer": "Increased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08586", "question": "What is associated with Iris nevus?", "seeds": [ "Iris nevus" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08587", "question": "What is associated with Hyperemesis gravidarum?", "seeds": [ "Hyperemesis gravidarum" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08588", "question": "What is associated with Increased circulating octadecanoate level?", "seeds": [ "Increased circulating octadecanoate level" ], "gold_answer": "Abnormal circulating long-chain fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08589", "question": "What is associated with Spastic paraplegia 12, autosomal dominant?", "seeds": [ "Spastic paraplegia 12, autosomal dominant" ], "gold_answer": "Limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08590", "question": "What is associated with Renal medullary pyramid hypoplasia?", "seeds": [ "Renal medullary pyramid hypoplasia" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08591", "question": "What phenotype is associated with Retinopathy of prematurity stage 1?", "seeds": [ "Retinopathy of prematurity stage 1" ], "gold_answer": "Blindness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08592", "question": "What is associated with Anomalous origin of left coronary artery from the pulmonary artery?", "seeds": [ "Anomalous origin of left coronary artery from the pulmonary artery" ], "gold_answer": "Anomalous origin of coronary artery from the pulmonary artery", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08593", "question": "What is associated with Abnormal memory B cell proportion?", "seeds": [ "Abnormal memory B cell proportion" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08594", "question": "What is associated with Cementum hypoplasia?", "seeds": [ "Cementum hypoplasia" ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08595", "question": "What is associated with Alfadhel syndrome?", "seeds": [ "Alfadhel syndrome" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08596", "question": "What is associated with Anti-beta fodrin antibody positivity?", "seeds": [ "Anti-beta fodrin antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08597", "question": "What is associated with Hordeolum internum?", "seeds": [ "Hordeolum internum" ], "gold_answer": "Hordeolum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08598", "question": "What is associated with Antimitochondrial antibody positivity?", "seeds": [ "Antimitochondrial antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08599", "question": "What phenotype is associated with Spastic paraplegia-Paget disease of bone syndrome?", "seeds": [ "Spastic paraplegia-Paget disease of bone syndrome" ], "gold_answer": "Tongue fasciculations", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08600", "question": "What is associated with Ureteric stricture?", "seeds": [ "Ureteric stricture" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08601", "question": "What is associated with Myopathy, congenital proximal, with minicore lesions?", "seeds": [ "Myopathy, congenital proximal, with minicore lesions" ], "gold_answer": "Abnormality of the tongue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08602", "question": "What phenotype is associated with Distal deletion 3p syndrome?", "seeds": [ "Distal deletion 3p syndrome" ], "gold_answer": "Abnormal vestibulo-ocular reflex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08603", "question": "What is associated with Cone-shaped epiphysis of the distal phalanx of the 3rd finger?", "seeds": [ "Cone-shaped epiphysis of the distal phalanx of the 3rd finger" ], "gold_answer": "Abnormal 3rd finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08604", "question": "What is associated with Myelocystocele?", "seeds": [ "Myelocystocele" ], "gold_answer": "Closed neural tube defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08605", "question": "What is associated with Decreased specific antibody response to protein-conjugated polysaccharide vaccine?", "seeds": [ "Decreased specific antibody response to protein-conjugated polysaccharide vaccine" ], "gold_answer": "Decreased circulating level of specific antibody", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08606", "question": "What is associated with Decreased total monocyte count?", "seeds": [ "Decreased total monocyte count" ], "gold_answer": "Abnormal monocyte count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08607", "question": "What is associated with Renal tubular karyomegaly?", "seeds": [ "Renal tubular karyomegaly" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08608", "question": "What is associated with Uterine rupture?", "seeds": [ "Uterine rupture" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08609", "question": "What phenotype is associated with Spermatogenic failure 49?", "seeds": [ "Spermatogenic failure 49" ], "gold_answer": "Absent sperm flagella", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08610", "question": "What is associated with Oculovertebral syndrome?", "seeds": [ "Oculovertebral syndrome" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08611", "question": "What is associated with Hypotension?", "seeds": [ "Hypotension" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08612", "question": "What is associated with Dyskinesia, seizures, and intellectual developmental disorder?", "seeds": [ "Dyskinesia, seizures, and intellectual developmental disorder" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08613", "question": "What is associated with Myxoid liposarcoma?", "seeds": [ "Myxoid liposarcoma" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08614", "question": "What is associated with Spermatogenic failure 82?", "seeds": [ "Spermatogenic failure 82" ], "gold_answer": "Decreased fertility in males", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08615", "question": "What is associated with Non-restrictive ventricular septal defect?", "seeds": [ "Non-restrictive ventricular septal defect" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08616", "question": "What is associated with Deformed humeral heads?", "seeds": [ "Deformed humeral heads" ], "gold_answer": "Deformed humerus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08617", "question": "What is associated with Polyneuritis?", "seeds": [ "Polyneuritis" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08618", "question": "What is associated with Decreased total granulocyte count?", "seeds": [ "Decreased total granulocyte count" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08619", "question": "What is associated with Myasthenic syndrome, congenital, 4A, slow-channel?", "seeds": [ "Myasthenic syndrome, congenital, 4A, slow-channel" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08620", "question": "What is associated with Bacteria allergy?", "seeds": [ "Bacteria allergy" ], "gold_answer": "Immunologic hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08621", "question": "What phenotype is associated with Schuurs-Hoeijmakers syndrome?", "seeds": [ "Schuurs-Hoeijmakers syndrome" ], "gold_answer": "Single transverse palmar crease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08622", "question": "What is associated with Increased mean corpuscular hemoglobin concentration?", "seeds": [ "Increased mean corpuscular hemoglobin concentration" ], "gold_answer": "Abnormal mean corpuscular hemoglobin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08623", "question": "What is associated with Necrolytic migratory erythema?", "seeds": [ "Necrolytic migratory erythema" ], "gold_answer": "Erythema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08624", "question": "What is associated with Abnormal lymph-node lymphocyte cytoplasm morphology?", "seeds": [ "Abnormal lymph-node lymphocyte cytoplasm morphology" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08625", "question": "What is associated with Hyaline casts?", "seeds": [ "Hyaline casts" ], "gold_answer": "Cylindruria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08626", "question": "What phenotype is associated with ICF syndrome?", "seeds": [ "ICF syndrome" ], "gold_answer": "Umbilical hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08627", "question": "What is associated with Pleomorphic xanthoastrocytoma?", "seeds": [ "Pleomorphic xanthoastrocytoma" ], "gold_answer": "Abnormal astrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08628", "question": "What is associated with Hypoketotic hypoglycemia?", "seeds": [ "Hypoketotic hypoglycemia" ], "gold_answer": "Hypoglycemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08629", "question": "What is associated with Familial cold autoinflammatory syndrome 3?", "seeds": [ "Familial cold autoinflammatory syndrome 3" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08630", "question": "What is associated with Direct antiglobulin test positive for IgM?", "seeds": [ "Direct antiglobulin test positive for IgM" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08631", "question": "What is associated with Facial palsy?", "seeds": [ "Facial palsy" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08632", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, axonal, type 2W?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2W" ], "gold_answer": "Absent Achilles reflex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08633", "question": "What is associated with Abnormal skull base morphology?", "seeds": [ "Abnormal skull base morphology" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08634", "question": "What phenotype is associated with Pompe disease, late-onset?", "seeds": [ "Pompe disease, late-onset" ], "gold_answer": "Elevated circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08635", "question": "What is associated with Enlarged thalamic volume?", "seeds": [ "Enlarged thalamic volume" ], "gold_answer": "Abnormal thalamic size", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08636", "question": "What is associated with Tropical calcific pancreatitis?", "seeds": [ "Tropical calcific pancreatitis" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08637", "question": "What is associated with Total absence of the pericardium?", "seeds": [ "Total absence of the pericardium" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08638", "question": "What is associated with Focal aware emotional seizure with paranoia?", "seeds": [ "Focal aware emotional seizure with paranoia" ], "gold_answer": "Focal aware non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08639", "question": "What phenotype is associated with Spinocerebellar ataxia, X-linked 2?", "seeds": [ "Spinocerebellar ataxia, X-linked 2" ], "gold_answer": "Abnormality of extrapyramidal motor function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08640", "question": "What is associated with Arthrogryposis, distal, type 4?", "seeds": [ "Arthrogryposis, distal, type 4" ], "gold_answer": "Talipes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08641", "question": "What is associated with Progressive familial heart block, type IB?", "seeds": [ "Progressive familial heart block, type IB" ], "gold_answer": "Reduced consciousness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08642", "question": "What phenotype is associated with Rothmund-Thomson syndrome type 1?", "seeds": [ "Rothmund-Thomson syndrome type 1" ], "gold_answer": "Abnormality of the radial head", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08643", "question": "What is associated with Abnormality of the thenar eminence?", "seeds": [ "Abnormality of the thenar eminence" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08644", "question": "What is associated with Cerebral germinoma?", "seeds": [ "Cerebral germinoma" ], "gold_answer": "Neoplasm of the central nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08645", "question": "What is associated with Abnormal fetal genitourinary system morphology?", "seeds": [ "Abnormal fetal genitourinary system morphology" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08646", "question": "What is associated with Abnormal lens capsule morphology?", "seeds": [ "Abnormal lens capsule morphology" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08647", "question": "What is associated with Li-Campeau syndrome?", "seeds": [ "Li-Campeau syndrome" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08648", "question": "What is associated with Prominent tragus?", "seeds": [ "Prominent tragus" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08649", "question": "What phenotype is associated with SCHIZENCEPHALY?", "seeds": [ "SCHIZENCEPHALY" ], "gold_answer": "Agenesis of corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08650", "question": "What is associated with Renal intimal/medial arteriolitis?", "seeds": [ "Renal intimal/medial arteriolitis" ], "gold_answer": "Abnormal renal arteriole morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08651", "question": "What is associated with Broad proximal phalanx of the thumb?", "seeds": [ "Broad proximal phalanx of the thumb" ], "gold_answer": "Abnormal middle phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08652", "question": "What is associated with Aneurysm, intracranial berry, 1?", "seeds": [ "Aneurysm, intracranial berry, 1" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08653", "question": "What phenotype is associated with Camptodactyly-joint contractures-facial skeletal defects syndrome?", "seeds": [ "Camptodactyly-joint contractures-facial skeletal defects syndrome" ], "gold_answer": "Abnormality of the hip bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08654", "question": "What is associated with Scalloped appearance of liver surface?", "seeds": [ "Scalloped appearance of liver surface" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08655", "question": "What phenotype is associated with 17q24.2 microdeletion syndrome?", "seeds": [ "17q24.2 microdeletion syndrome" ], "gold_answer": "Median cleft palate", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08656", "question": "What is associated with Retrocollis?", "seeds": [ "Retrocollis" ], "gold_answer": "Abnormal morphology of the musculature of the neck", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08657", "question": "What phenotype is associated with Hereditary bullous dystrophy, macular type?", "seeds": [ "Hereditary bullous dystrophy, macular type" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08658", "question": "What is associated with Abnormal B cell physiology?", "seeds": [ "Abnormal B cell physiology" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08659", "question": "What is associated with Focal segmental glomerulosclerosis 10?", "seeds": [ "Focal segmental glomerulosclerosis 10" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08660", "question": "What is associated with Decreased CSF lysine concentration?", "seeds": [ "Decreased CSF lysine concentration" ], "gold_answer": "Abnormal CSF aspartate family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08661", "question": "What phenotype is associated with Immune-mediated necrotizing myopathy?", "seeds": [ "Immune-mediated necrotizing myopathy" ], "gold_answer": "Elevated circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08662", "question": "What is associated with Pelizaeus-Merzbacher-like disease due to HSPD1 mutation?", "seeds": [ "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" ], "gold_answer": "HSPD1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08663", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 13?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 13" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08664", "question": "What is associated with Vestibular nystagmus?", "seeds": [ "Vestibular nystagmus" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08665", "question": "What is associated with Hyperkinetic movements?", "seeds": [ "Hyperkinetic movements" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08666", "question": "What phenotype is associated with Complement component 4B deficiency?", "seeds": [ "Complement component 4B deficiency" ], "gold_answer": "Meningitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08667", "question": "What is associated with Testicular tumor, somatic?", "seeds": [ "Testicular tumor, somatic" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08668", "question": "What is associated with Gastric pseudomass?", "seeds": [ "Gastric pseudomass" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08669", "question": "What is associated with Patchy sclerosis of 3rd finger phalanx?", "seeds": [ "Patchy sclerosis of 3rd finger phalanx" ], "gold_answer": "Abnormal 3rd finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08670", "question": "What is associated with Paracentral hyper-autofluorecence?", "seeds": [ "Paracentral hyper-autofluorecence" ], "gold_answer": "Abnormal posterior segment imaging", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08671", "question": "What is associated with Periorbital hyperpigmentation?", "seeds": [ "Periorbital hyperpigmentation" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08672", "question": "What is associated with Motion sickness?", "seeds": [ "Motion sickness" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08673", "question": "What is associated with Hypermethioninemia due to glycine N-methyltransferase deficiency?", "seeds": [ "Hypermethioninemia due to glycine N-methyltransferase deficiency" ], "gold_answer": "GNMT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_08674", "question": "What is associated with Exacerbated by tobacco use?", "seeds": [ "Exacerbated by tobacco use" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08675", "question": "What is associated with Woolly scalp hair?", "seeds": [ "Woolly scalp hair" ], "gold_answer": "Abnormality of hair texture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08676", "question": "What is associated with Arrhythmogenic right ventricular dysplasia 1?", "seeds": [ "Arrhythmogenic right ventricular dysplasia 1" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08677", "question": "What is associated with Abnormal heart valve physiology?", "seeds": [ "Abnormal heart valve physiology" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08678", "question": "What is associated with Exudative pleural effusion?", "seeds": [ "Exudative pleural effusion" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08679", "question": "What is associated with Restrictive external ophthalmoplegia?", "seeds": [ "Restrictive external ophthalmoplegia" ], "gold_answer": "Ophthalmoplegia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08680", "question": "What is associated with Loss of gluteal subcutaneous adipose tissue?", "seeds": [ "Loss of gluteal subcutaneous adipose tissue" ], "gold_answer": "Adipose tissue loss", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08681", "question": "What is associated with Atypical Rett syndrome?", "seeds": [ "Atypical Rett syndrome" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08682", "question": "What is associated with Metaphyseal striations?", "seeds": [ "Metaphyseal striations" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08683", "question": "What is associated with Transthyretin amyloid deposition?", "seeds": [ "Transthyretin amyloid deposition" ], "gold_answer": "Amyloid deposition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08684", "question": "What is associated with Abnormal dental morphology?", "seeds": [ "Abnormal dental morphology" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08685", "question": "What is associated with Abnormal knee physiology?", "seeds": [ "Abnormal knee physiology" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08686", "question": "What is associated with Small epiphysis of the proximal phalanx of the 3rd toe?", "seeds": [ "Small epiphysis of the proximal phalanx of the 3rd toe" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08687", "question": "What is associated with Dyscalculia?", "seeds": [ "Dyscalculia" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08688", "question": "What is associated with Abnormal circulating adrenocorticotropin concentration?", "seeds": [ "Abnormal circulating adrenocorticotropin concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08689", "question": "What is associated with Oculocerebrofacial syndrome, Kaufman type?", "seeds": [ "Oculocerebrofacial syndrome, Kaufman type" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08690", "question": "What is associated with Short toe?", "seeds": [ "Short toe" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08691", "question": "What is associated with Uninodular goiter?", "seeds": [ "Uninodular goiter" ], "gold_answer": "Nodular goiter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08692", "question": "What is associated with Waardenburg syndrome, type 4B?", "seeds": [ "Waardenburg syndrome, type 4B" ], "gold_answer": "Megacolon", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08693", "question": "What is associated with Chromosome 10q26 deletion syndrome?", "seeds": [ "Chromosome 10q26 deletion syndrome" ], "gold_answer": "Deviation of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08694", "question": "What is associated with Iron overload, susceptibility to?", "seeds": [ "Iron overload, susceptibility to" ], "gold_answer": "Abnormal hepatic iron concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08695", "question": "What is associated with Hemolacria?", "seeds": [ "Hemolacria" ], "gold_answer": "Lacrimation abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08696", "question": "What is associated with CSF polymorphonuclear pleocytosis?", "seeds": [ "CSF polymorphonuclear pleocytosis" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08697", "question": "What is associated with Sparse or absent eyelashes?", "seeds": [ "Sparse or absent eyelashes" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08698", "question": "What is associated with Intrauterine fetal demise of one twin after midgestation?", "seeds": [ "Intrauterine fetal demise of one twin after midgestation" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08699", "question": "What is associated with Pelvic bone exostoses?", "seeds": [ "Pelvic bone exostoses" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08700", "question": "What phenotype is associated with X-linked intellectual disability, Snyder type?", "seeds": [ "X-linked intellectual disability, Snyder type" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08701", "question": "What is associated with Bowman capsular hyaline drops?", "seeds": [ "Bowman capsular hyaline drops" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08702", "question": "What is associated with Abnormality of the pancreas?", "seeds": [ "Abnormality of the pancreas" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08703", "question": "What is associated with Absent epiphysis of the middle phalanx of the 3rd toe?", "seeds": [ "Absent epiphysis of the middle phalanx of the 3rd toe" ], "gold_answer": "Absent epiphyses", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08704", "question": "What phenotype is associated with Neuronopathy, distal hereditary motor, autosomal dominant 15?", "seeds": [ "Neuronopathy, distal hereditary motor, autosomal dominant 15" ], "gold_answer": "Fiber type grouping", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08705", "question": "What is associated with Autosomal recessive spastic paraplegia type 26?", "seeds": [ "Autosomal recessive spastic paraplegia type 26" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08706", "question": "What is associated with Autosomal dominant hypocalcemia?", "seeds": [ "Autosomal dominant hypocalcemia" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08707", "question": "What is associated with Severe recurrent varicella?", "seeds": [ "Severe recurrent varicella" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08708", "question": "What is associated with Elevated erythrocyte AICA-ribotide concentration?", "seeds": [ "Elevated erythrocyte AICA-ribotide concentration" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08709", "question": "What is associated with Achondrogenesis, type II?", "seeds": [ "Achondrogenesis, type II" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08710", "question": "What is associated with Abnormal antihelix morphology?", "seeds": [ "Abnormal antihelix morphology" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08711", "question": "What phenotype is associated with Osteopetrosis, autosomal dominant 1?", "seeds": [ "Osteopetrosis, autosomal dominant 1" ], "gold_answer": "Mandibular pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08712", "question": "What is associated with Thyroid nodule?", "seeds": [ "Thyroid nodule" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08713", "question": "What phenotype is associated with Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency?", "seeds": [ "Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" ], "gold_answer": "Failure to thrive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08714", "question": "What is associated with Orbital craniosynostosis?", "seeds": [ "Orbital craniosynostosis" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08715", "question": "What is associated with Spastic paraplegia 90B, autosomal recessive?", "seeds": [ "Spastic paraplegia 90B, autosomal recessive" ], "gold_answer": "Excessive salivation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08716", "question": "What is associated with Lower limb amyotrophy?", "seeds": [ "Lower limb amyotrophy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08717", "question": "What is associated with Temporal bossing?", "seeds": [ "Temporal bossing" ], "gold_answer": "Abnormal temporal bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08718", "question": "What is associated with Abnormality of the epiphyses of the distal phalanx of finger?", "seeds": [ "Abnormality of the epiphyses of the distal phalanx of finger" ], "gold_answer": "Abnormal distal phalanx morphology of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08719", "question": "What is associated with Hypoprolinemia?", "seeds": [ "Hypoprolinemia" ], "gold_answer": "Abnormal circulating glutamine family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08720", "question": "What is associated with Elevated circulating alpha-ketoglutarate concentration?", "seeds": [ "Elevated circulating alpha-ketoglutarate concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08721", "question": "What is associated with Minor finding?", "seeds": [ "Minor finding" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08722", "question": "What is associated with CSF infectious agent?", "seeds": [ "CSF infectious agent" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08723", "question": "What is associated with Blepharospasm?", "seeds": [ "Blepharospasm" ], "gold_answer": "Craniofacial dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08724", "question": "What is associated with Atypical sorting?", "seeds": [ "Atypical sorting" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08725", "question": "What is associated with Decreased fumarate hydratase activity?", "seeds": [ "Decreased fumarate hydratase activity" ], "gold_answer": "Abnormality of Krebs cycle metabolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08726", "question": "What is associated with Duplication of the distal phalanx of the 4th finger?", "seeds": [ "Duplication of the distal phalanx of the 4th finger" ], "gold_answer": "Abnormal 4th finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08727", "question": "What is associated with Cerebral cortex with spongiform changes?", "seeds": [ "Cerebral cortex with spongiform changes" ], "gold_answer": "Abnormal cerebral cortex morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08728", "question": "What is associated with Focal aware cognitive seizure with neglect?", "seeds": [ "Focal aware cognitive seizure with neglect" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08729", "question": "What is associated with Focal aware tonic seizure?", "seeds": [ "Focal aware tonic seizure" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08730", "question": "What is associated with Lobular carcinoma in situ?", "seeds": [ "Lobular carcinoma in situ" ], "gold_answer": "Abnormality of the breast", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08731", "question": "What is associated with Thin upper lip vermilion?", "seeds": [ "Thin upper lip vermilion" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08732", "question": "What is associated with Total anosmia?", "seeds": [ "Total anosmia" ], "gold_answer": "Anosmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08733", "question": "What is associated with Duodenal atrophy?", "seeds": [ "Duodenal atrophy" ], "gold_answer": "Abnormal small intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08734", "question": "What is associated with Microscopic polyangiitis?", "seeds": [ "Microscopic polyangiitis" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08735", "question": "What is associated with Neuralgia?", "seeds": [ "Neuralgia" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08736", "question": "What is associated with Metaphyseal chondromatosis of radius?", "seeds": [ "Metaphyseal chondromatosis of radius" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08737", "question": "What is associated with Lower extremity peripheral arterial calcification?", "seeds": [ "Lower extremity peripheral arterial calcification" ], "gold_answer": "Peripheral arterial calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08738", "question": "What is associated with Large sternal ossification centers?", "seeds": [ "Large sternal ossification centers" ], "gold_answer": "Abnormal sternal ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08739", "question": "What phenotype is associated with Glycerol kinase deficiency?", "seeds": [ "Glycerol kinase deficiency" ], "gold_answer": "Increased circulating lactate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08740", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the thumb?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the thumb" ], "gold_answer": "Patchy osteosclerosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08741", "question": "What is associated with Hypoplastic distal radial epiphyses?", "seeds": [ "Hypoplastic distal radial epiphyses" ], "gold_answer": "Abnormal radial epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08742", "question": "What phenotype is associated with Anauxetic dysplasia 1?", "seeds": [ "Anauxetic dysplasia 1" ], "gold_answer": "Flared metaphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08743", "question": "What is associated with EEG with temporal slowing?", "seeds": [ "EEG with temporal slowing" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08744", "question": "What is associated with Cardiac conduction disease with or without cardiomyopathy 2?", "seeds": [ "Cardiac conduction disease with or without cardiomyopathy 2" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08745", "question": "What is associated with Focal epithelial hyperplasia of oral mucosa?", "seeds": [ "Focal epithelial hyperplasia of oral mucosa" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08746", "question": "What is associated with Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome?", "seeds": [ "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome" ], "gold_answer": "NFE2L2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08747", "question": "What is associated with Abnormality of the epiphysis of the proximal phalanx of the 3rd toe?", "seeds": [ "Abnormality of the epiphysis of the proximal phalanx of the 3rd toe" ], "gold_answer": "Abnormal third toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08748", "question": "What is associated with Deafness, autosomal recessive 93?", "seeds": [ "Deafness, autosomal recessive 93" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08749", "question": "What is associated with Cupped radial metaphyses?", "seeds": [ "Cupped radial metaphyses" ], "gold_answer": "Metaphyseal cupping", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08750", "question": "What is associated with Atrial fibrillation, familial, 11?", "seeds": [ "Atrial fibrillation, familial, 11" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08751", "question": "What is associated with Meconium aspiration syndrome?", "seeds": [ "Meconium aspiration syndrome" ], "gold_answer": "Abnormal blood gas level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08752", "question": "What is associated with Bulging epiphyses?", "seeds": [ "Bulging epiphyses" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08753", "question": "What is associated with Gait instability, worse in the dark?", "seeds": [ "Gait instability, worse in the dark" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08754", "question": "What phenotype is associated with Myoclonic epilepsy of Lafora 2?", "seeds": [ "Myoclonic epilepsy of Lafora 2" ], "gold_answer": "Progressive neurologic deterioration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08755", "question": "What is associated with Medium chain acyl-CoA dehydrogenase deficiency?", "seeds": [ "Medium chain acyl-CoA dehydrogenase deficiency" ], "gold_answer": "Seizure precipitated by febrile infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08756", "question": "What is associated with Abnormal muscle fiber morphology?", "seeds": [ "Abnormal muscle fiber morphology" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08757", "question": "What is associated with Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome?", "seeds": [ "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08758", "question": "What phenotype is associated with Young syndrome?", "seeds": [ "Young syndrome" ], "gold_answer": "Reduced forced vital capacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08759", "question": "What is associated with Reduced tissue gamma-glutamyltransferase activity?", "seeds": [ "Reduced tissue gamma-glutamyltransferase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08760", "question": "What is associated with Abnormal elbow epiphysis morphology?", "seeds": [ "Abnormal elbow epiphysis morphology" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08761", "question": "What is associated with Bifid nail?", "seeds": [ "Bifid nail" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08762", "question": "What phenotype is associated with Multiple congenital anomalies-neurodevelopmental syndrome, X-linked?", "seeds": [ "Multiple congenital anomalies-neurodevelopmental syndrome, X-linked" ], "gold_answer": "Talipes equinovarus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08763", "question": "What is associated with X-linked inheritance?", "seeds": [ "X-linked inheritance" ], "gold_answer": "Mendelian inheritance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08764", "question": "What is associated with Enlarged proximal interphalangeal joints?", "seeds": [ "Enlarged proximal interphalangeal joints" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08765", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 38?", "seeds": [ "Ciliary dyskinesia, primary, 38" ], "gold_answer": "Intestinal malrotation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08766", "question": "What is associated with Reduced blood folate concentration?", "seeds": [ "Reduced blood folate concentration" ], "gold_answer": "Abnormality of folate metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08767", "question": "What is associated with Nephrotic syndrome, type 26?", "seeds": [ "Nephrotic syndrome, type 26" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08768", "question": "What is associated with Renal cyst?", "seeds": [ "Renal cyst" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08769", "question": "What is associated with Schwannomatosis?", "seeds": [ "Schwannomatosis" ], "gold_answer": "Neoplasm of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08770", "question": "What phenotype is associated with Leukocyte nuclear appendages, hereditary prevalence of?", "seeds": [ "Leukocyte nuclear appendages, hereditary prevalence of" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08771", "question": "What is associated with Absent Bell phenomenon?", "seeds": [ "Absent Bell phenomenon" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08772", "question": "What is associated with Bracket epiphyses of the middle phalanges of the hand?", "seeds": [ "Bracket epiphyses of the middle phalanges of the hand" ], "gold_answer": "Abnormal middle phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08773", "question": "What is associated with Abnormal pancreatic duct morphology?", "seeds": [ "Abnormal pancreatic duct morphology" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08774", "question": "What is associated with Iridescent posterior subcapsular cataract?", "seeds": [ "Iridescent posterior subcapsular cataract" ], "gold_answer": "Posterior subcapsular cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08775", "question": "What is associated with Recurrent fungal infections?", "seeds": [ "Recurrent fungal infections" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08776", "question": "What is associated with Abnormal finger phalanx morphology?", "seeds": [ "Abnormal finger phalanx morphology" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08777", "question": "What is associated with Abnormal paranasal sinus morphology?", "seeds": [ "Abnormal paranasal sinus morphology" ], "gold_answer": "Abnormality of the upper respiratory tract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08778", "question": "What is associated with Hyperpigmented papule?", "seeds": [ "Hyperpigmented papule" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08779", "question": "What is associated with Decreased circulating mannose-binding protein concentration?", "seeds": [ "Decreased circulating mannose-binding protein concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08780", "question": "What is associated with Osteolytic defects of the middle phalanx of the 2nd toe?", "seeds": [ "Osteolytic defects of the middle phalanx of the 2nd toe" ], "gold_answer": "Osteolysis involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08781", "question": "What phenotype is associated with Pallister-Hall syndrome?", "seeds": [ "Pallister-Hall syndrome" ], "gold_answer": "Intestinal malrotation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08782", "question": "What is associated with Developmental and epileptic encephalopathy 48?", "seeds": [ "Developmental and epileptic encephalopathy 48" ], "gold_answer": "Abnormal eye contact", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08783", "question": "What phenotype is associated with Neurodevelopmental disorder with seizures and gingival overgrowth?", "seeds": [ "Neurodevelopmental disorder with seizures and gingival overgrowth" ], "gold_answer": "Slurred speech", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08784", "question": "What is associated with Adenocarcinoma of the small intestine?", "seeds": [ "Adenocarcinoma of the small intestine" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08785", "question": "What is associated with Ectrodactyly-polydactyly syndrome?", "seeds": [ "Ectrodactyly-polydactyly syndrome" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08786", "question": "What phenotype is associated with Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4?", "seeds": [ "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4" ], "gold_answer": "Corpus callosum atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08787", "question": "What is associated with Delusion of love?", "seeds": [ "Delusion of love" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08788", "question": "What is associated with Hereditary myopathy with early respiratory failure?", "seeds": [ "Hereditary myopathy with early respiratory failure" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08789", "question": "What is associated with Epiphyseal dysplasia, multiple, with myopia and conductive deafness?", "seeds": [ "Epiphyseal dysplasia, multiple, with myopia and conductive deafness" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08790", "question": "What is associated with Exostoses of the ulna?", "seeds": [ "Exostoses of the ulna" ], "gold_answer": "Exostoses of the forearm bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08791", "question": "What is associated with DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION?", "seeds": [ "DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08792", "question": "What is associated with Left Isomerism?", "seeds": [ "Left Isomerism" ], "gold_answer": "Heterotaxy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08793", "question": "What is associated with Bleeding into skin lesions?", "seeds": [ "Bleeding into skin lesions" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08794", "question": "What is associated with Pleural mass?", "seeds": [ "Pleural mass" ], "gold_answer": "Mass on thoracic imaging", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08795", "question": "What is associated with Maxillonasal dysplasia, Binder type?", "seeds": [ "Maxillonasal dysplasia, Binder type" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08796", "question": "What is associated with Multiflagellar spermatozoa?", "seeds": [ "Multiflagellar spermatozoa" ], "gold_answer": "Abnormal sperm tail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08797", "question": "What is associated with Prekallikrein deficiency?", "seeds": [ "Prekallikrein deficiency" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08798", "question": "What is associated with Focal impaired awareness hemifacial clonic seizure?", "seeds": [ "Focal impaired awareness hemifacial clonic seizure" ], "gold_answer": "Clonic seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08799", "question": "What is associated with Insulin-Like growth factor I, resistance to?", "seeds": [ "Insulin-Like growth factor I, resistance to" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08800", "question": "What phenotype is associated with Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay?", "seeds": [ "Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay" ], "gold_answer": "Myoclonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08801", "question": "What is associated with Autoinflammation with infantile enterocolitis?", "seeds": [ "Autoinflammation with infantile enterocolitis" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08802", "question": "What is associated with Freckled genitalia?", "seeds": [ "Freckled genitalia" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08803", "question": "What is associated with Decreased skull base length?", "seeds": [ "Decreased skull base length" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08804", "question": "What is associated with Ivory epiphysis of the proximal phalanx of the thumb?", "seeds": [ "Ivory epiphysis of the proximal phalanx of the thumb" ], "gold_answer": "Abnormality of the epiphyses of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08805", "question": "What is associated with Phosphoglycerate mutase, muscle, deficiency of?", "seeds": [ "Phosphoglycerate mutase, muscle, deficiency of" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08806", "question": "What is associated with Decreased circulating beta-mannosidase activity?", "seeds": [ "Decreased circulating beta-mannosidase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08807", "question": "What is associated with Aplasia/Hypoplasia of the brainstem?", "seeds": [ "Aplasia/Hypoplasia of the brainstem" ], "gold_answer": "Abnormal brainstem morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08808", "question": "What is associated with Proximal placement of hallux?", "seeds": [ "Proximal placement of hallux" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08809", "question": "What is associated with Abnormal CSF urate concentration?", "seeds": [ "Abnormal CSF urate concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08810", "question": "What is associated with Follicular lymphoma?", "seeds": [ "Follicular lymphoma" ], "gold_answer": "HLA-DRB1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_08811", "question": "What is associated with Autoimmunity?", "seeds": [ "Autoimmunity" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08812", "question": "What phenotype is associated with Distal 7q11.23 microdeletion syndrome?", "seeds": [ "Distal 7q11.23 microdeletion syndrome" ], "gold_answer": "Attention deficit hyperactivity disorder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08813", "question": "What is associated with DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF?", "seeds": [ "DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08814", "question": "What is associated with Abnormal lower-limb metaphysis morphology?", "seeds": [ "Abnormal lower-limb metaphysis morphology" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08815", "question": "What is associated with Anti-contactin-associated protein 1 antibody positivity?", "seeds": [ "Anti-contactin-associated protein 1 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08816", "question": "What is associated with Paraspinal neurofibroma?", "seeds": [ "Paraspinal neurofibroma" ], "gold_answer": "Neurofibroma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08817", "question": "What is associated with Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2?", "seeds": [ "Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08818", "question": "What phenotype is associated with Hypothyroidism, congenital, nongoitrous, 1?", "seeds": [ "Hypothyroidism, congenital, nongoitrous, 1" ], "gold_answer": "Jaundice", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08819", "question": "What phenotype is associated with 46XY sex reversal 5?", "seeds": [ "46XY sex reversal 5" ], "gold_answer": "Sex reversal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08820", "question": "What is associated with Carotid sinus syncope?", "seeds": [ "Carotid sinus syncope" ], "gold_answer": "Reduced consciousness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08821", "question": "What is associated with Cataract 3, multiple types?", "seeds": [ "Cataract 3, multiple types" ], "gold_answer": "CRYBB1", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08822", "question": "What is associated with Mandibular cyst?", "seeds": [ "Mandibular cyst" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08823", "question": "What phenotype is associated with Drug metabolism, altered, CES1-related?", "seeds": [ "Drug metabolism, altered, CES1-related" ], "gold_answer": "Abnormal drug response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08824", "question": "What is associated with Abnormal high-mannose N-glycan level?", "seeds": [ "Abnormal high-mannose N-glycan level" ], "gold_answer": "Abnormal protein N-linked glycosylation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08825", "question": "What is associated with Clavicular pseudarthrosis?", "seeds": [ "Clavicular pseudarthrosis" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08826", "question": "What is associated with Bone marrow maturation arrest?", "seeds": [ "Bone marrow maturation arrest" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08827", "question": "What is associated with Deafness, autosomal recessive 55?", "seeds": [ "Deafness, autosomal recessive 55" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08828", "question": "What is associated with Convulsive disorder, familial, with prenatal or early onset?", "seeds": [ "Convulsive disorder, familial, with prenatal or early onset" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08829", "question": "What is associated with Rickets?", "seeds": [ "Rickets" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08830", "question": "What is associated with White appearance of duodenal mucosa?", "seeds": [ "White appearance of duodenal mucosa" ], "gold_answer": "Abnormal duodenum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08831", "question": "What is associated with 7p22.1 microduplication syndrome?", "seeds": [ "7p22.1 microduplication syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08832", "question": "What is associated with Fetal tetracycline exposure?", "seeds": [ "Fetal tetracycline exposure" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08833", "question": "What is associated with Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity?", "seeds": [ "Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity" ], "gold_answer": "Anti-islet antigen-2 antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08834", "question": "What is associated with Increased CSF uracil concentration?", "seeds": [ "Increased CSF uracil concentration" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08835", "question": "What is associated with Humeral pseudarthrosis?", "seeds": [ "Humeral pseudarthrosis" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08836", "question": "What is associated with Hyperinsulinism due to HNF1A deficiency?", "seeds": [ "Hyperinsulinism due to HNF1A deficiency" ], "gold_answer": "Abnormal eating behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08837", "question": "What is associated with Lower limb amyotrophy?", "seeds": [ "Lower limb amyotrophy" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08838", "question": "What is associated with Maternal teratogenic exposure?", "seeds": [ "Maternal teratogenic exposure" ], "gold_answer": "Pregnancy exposure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08839", "question": "What is associated with Decreased proportion of HLA DR+ CD4+ T cells?", "seeds": [ "Decreased proportion of HLA DR+ CD4+ T cells" ], "gold_answer": "Abnormal CD4+ T cell subset proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08840", "question": "What is associated with Carpometacarpal thumb joint contracture?", "seeds": [ "Carpometacarpal thumb joint contracture" ], "gold_answer": "Thumb contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08841", "question": "What is associated with Prolonged N1 sleep?", "seeds": [ "Prolonged N1 sleep" ], "gold_answer": "Abnormal sleep architecture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08842", "question": "What is associated with Pulmonary pneumatocele?", "seeds": [ "Pulmonary pneumatocele" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08843", "question": "What phenotype is associated with Infundibulopelvic dysgenesis?", "seeds": [ "Infundibulopelvic dysgenesis" ], "gold_answer": "Abdominal pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08844", "question": "What is associated with Pancreatic fibrosis?", "seeds": [ "Pancreatic fibrosis" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08845", "question": "What is associated with Central nervous system cyst?", "seeds": [ "Central nervous system cyst" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08846", "question": "What is associated with Visual snow syndrome?", "seeds": [ "Visual snow syndrome" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08847", "question": "What is associated with Intellectual developmental disorder, X-linked syndromic, Billuart type?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic, Billuart type" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08848", "question": "What phenotype is associated with Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay?", "seeds": [ "Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay" ], "gold_answer": "Mask-like facies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08849", "question": "What phenotype is associated with Microphthalmia, isolated, with coloboma 9?", "seeds": [ "Microphthalmia, isolated, with coloboma 9" ], "gold_answer": "Narrow palpebral fissure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08850", "question": "What is associated with Acute constipation?", "seeds": [ "Acute constipation" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08851", "question": "What phenotype is associated with Crimean-Congo hemorrhagic fever?", "seeds": [ "Crimean-Congo hemorrhagic fever" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08852", "question": "What is associated with Lytic defects of radial diaphysis?", "seeds": [ "Lytic defects of radial diaphysis" ], "gold_answer": "Abnormal morphology of the radius", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08853", "question": "What is associated with Abnormal interest?", "seeds": [ "Abnormal interest" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08854", "question": "What is associated with Hartnup disorder?", "seeds": [ "Hartnup disorder" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08855", "question": "What is associated with Penis uncircumcised?", "seeds": [ "Penis uncircumcised" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08856", "question": "What is associated with Amyloid goiter?", "seeds": [ "Amyloid goiter" ], "gold_answer": "Goiter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08857", "question": "What is associated with Abnormality of the incisor?", "seeds": [ "Abnormality of the incisor" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08858", "question": "What is associated with Barking cough?", "seeds": [ "Barking cough" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08859", "question": "What is associated with Macular pseudocoloboma?", "seeds": [ "Macular pseudocoloboma" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08860", "question": "What is associated with Oculoauricular syndrome, Schorderet type?", "seeds": [ "Oculoauricular syndrome, Schorderet type" ], "gold_answer": "HMX1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_08861", "question": "What is associated with Focal autonomic seizure with piloerection?", "seeds": [ "Focal autonomic seizure with piloerection" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08862", "question": "What is associated with Succinic acidemia?", "seeds": [ "Succinic acidemia" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08863", "question": "What is associated with Bladder polyp?", "seeds": [ "Bladder polyp" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08864", "question": "What is associated with Hereditary geniospasm?", "seeds": [ "Hereditary geniospasm" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08865", "question": "What phenotype is associated with Familial digital arthropathy-brachydactyly?", "seeds": [ "Familial digital arthropathy-brachydactyly" ], "gold_answer": "Shortening of all middle phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08866", "question": "What is associated with Cervical C6/C7 vertebrae fusion?", "seeds": [ "Cervical C6/C7 vertebrae fusion" ], "gold_answer": "Vertebral fusion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08867", "question": "What is associated with Limited vertical extraocular movement?", "seeds": [ "Limited vertical extraocular movement" ], "gold_answer": "Limited extraocular movements", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08868", "question": "What is associated with Underdeveloped superior crus of antihelix?", "seeds": [ "Underdeveloped superior crus of antihelix" ], "gold_answer": "Abnormal antihelix morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08869", "question": "What is associated with Dilatation of the bladder?", "seeds": [ "Dilatation of the bladder" ], "gold_answer": "Abnormal bladder morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08870", "question": "What is associated with Abnormal 5th finger morphology?", "seeds": [ "Abnormal 5th finger morphology" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08871", "question": "What is associated with Reduced erythrocyte glutathione peroxidase?", "seeds": [ "Reduced erythrocyte glutathione peroxidase" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08872", "question": "What is associated with Oppenheim reflex?", "seeds": [ "Oppenheim reflex" ], "gold_answer": "Long-tract sign", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08873", "question": "What is associated with Ivory epiphyses of the 3rd toe?", "seeds": [ "Ivory epiphyses of the 3rd toe" ], "gold_answer": "Ivory epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08874", "question": "What is associated with Ciliary dyskinesia, primary, 45?", "seeds": [ "Ciliary dyskinesia, primary, 45" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08875", "question": "What is associated with Abnormality of the proximal phalanx of the 2nd finger?", "seeds": [ "Abnormality of the proximal phalanx of the 2nd finger" ], "gold_answer": "Abnormal 2nd finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08876", "question": "What is associated with Elevated CSF myelin basic protein concentration?", "seeds": [ "Elevated CSF myelin basic protein concentration" ], "gold_answer": "Abnormal CSF protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08877", "question": "What is associated with Renal tubular viral cytopathic changes?", "seeds": [ "Renal tubular viral cytopathic changes" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08878", "question": "What is associated with Streak ovary?", "seeds": [ "Streak ovary" ], "gold_answer": "Hypoplasia of the ovary", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08879", "question": "What is associated with B Acute Lymphoblastic Leukemia?", "seeds": [ "B Acute Lymphoblastic Leukemia" ], "gold_answer": "Acute lymphoblastic leukemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08880", "question": "What is associated with Neurodevelopmental disorder with language impairment and behavioral abnormalities?", "seeds": [ "Neurodevelopmental disorder with language impairment and behavioral abnormalities" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08881", "question": "What is associated with Pituitary hormone deficiency, combined, 2?", "seeds": [ "Pituitary hormone deficiency, combined, 2" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08882", "question": "What is associated with IMAGe syndrome?", "seeds": [ "IMAGe syndrome" ], "gold_answer": "Abnormal adrenal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08883", "question": "What phenotype is associated with Congenital disorder of glycosylation, type IIO?", "seeds": [ "Congenital disorder of glycosylation, type IIO" ], "gold_answer": "Decreased circulating ceruloplasmin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08884", "question": "What is associated with Abnormal metabolism?", "seeds": [ "Abnormal metabolism" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08885", "question": "What phenotype is associated with Trichohepatoneurodevelopmental syndrome?", "seeds": [ "Trichohepatoneurodevelopmental syndrome" ], "gold_answer": "Curly hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08886", "question": "What is associated with Abnormal ductus choledochus morphology?", "seeds": [ "Abnormal ductus choledochus morphology" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08887", "question": "What phenotype is associated with Thyroid hormonogenesis, genetic defect in, 2A?", "seeds": [ "Thyroid hormonogenesis, genetic defect in, 2A" ], "gold_answer": "Goiter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08888", "question": "What is associated with Iliac artery aneurysm?", "seeds": [ "Iliac artery aneurysm" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08889", "question": "What is associated with Nasolacrimal sac epithelial papillary carcinoma?", "seeds": [ "Nasolacrimal sac epithelial papillary carcinoma" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08890", "question": "What is associated with Morphological central nervous system abnormality?", "seeds": [ "Morphological central nervous system abnormality" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08891", "question": "What phenotype is associated with Hydroxylysinuria?", "seeds": [ "Hydroxylysinuria" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08892", "question": "What is associated with Facial-lingual fasciculations?", "seeds": [ "Facial-lingual fasciculations" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08893", "question": "What is associated with Congenital malformation of the left heart?", "seeds": [ "Congenital malformation of the left heart" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08894", "question": "What is associated with Severe muscular hypotonia?", "seeds": [ "Severe muscular hypotonia" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08895", "question": "What is associated with Charcot-Marie-Tooth disease and deafness?", "seeds": [ "Charcot-Marie-Tooth disease and deafness" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08896", "question": "What is associated with Hyperhistidinemia?", "seeds": [ "Hyperhistidinemia" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08897", "question": "What is associated with Sternocleidomastoid amyotrophy?", "seeds": [ "Sternocleidomastoid amyotrophy" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08898", "question": "What is associated with Bidirectional ventricular ectopy?", "seeds": [ "Bidirectional ventricular ectopy" ], "gold_answer": "Ventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08899", "question": "What is associated with Retinitis pigmentosa 59?", "seeds": [ "Retinitis pigmentosa 59" ], "gold_answer": "Abnormal penis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08900", "question": "What is associated with Kappa Bence Jones proteinuria?", "seeds": [ "Kappa Bence Jones proteinuria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08901", "question": "What is associated with Abnormal septum pellucidum morphology?", "seeds": [ "Abnormal septum pellucidum morphology" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08902", "question": "What phenotype is associated with Gyrate atrophy of choroid and retina?", "seeds": [ "Gyrate atrophy of choroid and retina" ], "gold_answer": "Chorioretinal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08903", "question": "What is associated with Overhydrated hereditary stomatocytosis?", "seeds": [ "Overhydrated hereditary stomatocytosis" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08904", "question": "What is associated with Synovial granuloma?", "seeds": [ "Synovial granuloma" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08905", "question": "What is associated with Cerebellar cyst?", "seeds": [ "Cerebellar cyst" ], "gold_answer": "Intracranial cystic lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08906", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 31?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 31" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08907", "question": "What is associated with Immediate Echolalia?", "seeds": [ "Immediate Echolalia" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08908", "question": "What phenotype is associated with Hypogonadotropic hypogonadism 5 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 5 with or without anosmia" ], "gold_answer": "Hypogonadotropic hypogonadism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08909", "question": "What is associated with Aplasia/Hypoplasia involving the femoral head and neck?", "seeds": [ "Aplasia/Hypoplasia involving the femoral head and neck" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08910", "question": "What is associated with Hypomagnesemia 3, renal?", "seeds": [ "Hypomagnesemia 3, renal" ], "gold_answer": "Abnormal drinking behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08911", "question": "What is associated with Spinocerebellar ataxia type 42?", "seeds": [ "Spinocerebellar ataxia type 42" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08912", "question": "What is associated with Monorchism?", "seeds": [ "Monorchism" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08913", "question": "What is associated with Postmenopausal onset?", "seeds": [ "Postmenopausal onset" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08914", "question": "What is associated with Hypoplastic optic chiasm?", "seeds": [ "Hypoplastic optic chiasm" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08915", "question": "What is associated with Retinal calcification?", "seeds": [ "Retinal calcification" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08916", "question": "What is associated with Premature fusion of phalangeal epiphyses?", "seeds": [ "Premature fusion of phalangeal epiphyses" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08917", "question": "What is associated with Abnormality of premolar?", "seeds": [ "Abnormality of premolar" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08918", "question": "What is associated with Potocki-Lupski syndrome?", "seeds": [ "Potocki-Lupski syndrome" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08919", "question": "What is associated with Abnormality of the epiphyses of the feet?", "seeds": [ "Abnormality of the epiphyses of the feet" ], "gold_answer": "Abnormal lower limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08920", "question": "What is associated with Balanced double aortic arch?", "seeds": [ "Balanced double aortic arch" ], "gold_answer": "Abnormal branching pattern of the aortic arch", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08921", "question": "What phenotype is associated with Earring holes, natural?", "seeds": [ "Earring holes, natural" ], "gold_answer": "Congenital earlobe sinuses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08922", "question": "What is associated with Anterior pituitary dysgenesis?", "seeds": [ "Anterior pituitary dysgenesis" ], "gold_answer": "Abnormality of the anterior pituitary", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08923", "question": "What is associated with Osteoporotic humerus?", "seeds": [ "Osteoporotic humerus" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08924", "question": "What is associated with Microcystic stromal tumor?", "seeds": [ "Microcystic stromal tumor" ], "gold_answer": "CTNNB1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "candidate_gene_tested_in" } }, { "query_id": "orph_train_08925", "question": "What is associated with Common atrium?", "seeds": [ "Common atrium" ], "gold_answer": "Abnormal cardiac atrium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08926", "question": "What is associated with Bullous pemphigoid?", "seeds": [ "Bullous pemphigoid" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08927", "question": "What is associated with Paroxysmal extreme pain disorder?", "seeds": [ "Paroxysmal extreme pain disorder" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08928", "question": "What is associated with Herpetiform?", "seeds": [ "Herpetiform" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08929", "question": "What is associated with Dystonia, early-onset, and/or spastic paraplegia?", "seeds": [ "Dystonia, early-onset, and/or spastic paraplegia" ], "gold_answer": "Dysphonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08930", "question": "What is associated with Deformed tarsal bones?", "seeds": [ "Deformed tarsal bones" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08931", "question": "What is associated with Tarsal synostosis?", "seeds": [ "Tarsal synostosis" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08932", "question": "What phenotype is associated with Arthrogryposis multiplex congenita 3, myogenic type?", "seeds": [ "Arthrogryposis multiplex congenita 3, myogenic type" ], "gold_answer": "Hypermetropia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08933", "question": "What is associated with Abnormality of the cervical spine?", "seeds": [ "Abnormality of the cervical spine" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08934", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 44?", "seeds": [ "Autosomal recessive spastic paraplegia type 44" ], "gold_answer": "CNS hypomyelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08935", "question": "What is associated with Pain at the anterior aspect of the elbow?", "seeds": [ "Pain at the anterior aspect of the elbow" ], "gold_answer": "Limb pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08936", "question": "What is associated with Absent epiphyses of the 4th toe?", "seeds": [ "Absent epiphyses of the 4th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08937", "question": "What is associated with Mitochondrial complex IV deficiency, nuclear type 23?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 23" ], "gold_answer": "Hernia of the abdominal wall", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08938", "question": "What is associated with EEG with focal sharp slow waves?", "seeds": [ "EEG with focal sharp slow waves" ], "gold_answer": "Interictal EEG abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08939", "question": "What is associated with Abnormal tongue physiology?", "seeds": [ "Abnormal tongue physiology" ], "gold_answer": "Abnormal oral physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08940", "question": "What phenotype is associated with Combined immunodeficiency-multiple intestinal atresia?", "seeds": [ "Combined immunodeficiency-multiple intestinal atresia" ], "gold_answer": "Intestinal malrotation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08941", "question": "What is associated with Abnormal glomerular mesangial cellularity?", "seeds": [ "Abnormal glomerular mesangial cellularity" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08942", "question": "What is associated with Reduced tissue fructose-1,6-bisphosphatase activity?", "seeds": [ "Reduced tissue fructose-1,6-bisphosphatase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08943", "question": "What is associated with Weak voice?", "seeds": [ "Weak voice" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08944", "question": "What is associated with Reduced erythrocyte galactokinase activity?", "seeds": [ "Reduced erythrocyte galactokinase activity" ], "gold_answer": "Abnormal erythrocyte enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08945", "question": "What is associated with Blindness?", "seeds": [ "Blindness" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08946", "question": "What is associated with Subsolid pulmonary nodule?", "seeds": [ "Subsolid pulmonary nodule" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08947", "question": "What phenotype is associated with Hand-foot-uterus syndrome?", "seeds": [ "Hand-foot-uterus syndrome" ], "gold_answer": "Micropenis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08948", "question": "What is associated with Organized thrombi within interlobular vein lumen?", "seeds": [ "Organized thrombi within interlobular vein lumen" ], "gold_answer": "Abnormal interlobular vein lumen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08949", "question": "What is associated with Monocular horizontal nystagmus?", "seeds": [ "Monocular horizontal nystagmus" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08950", "question": "What is associated with Abnormal pulmonary artery physiology?", "seeds": [ "Abnormal pulmonary artery physiology" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08951", "question": "What is associated with Tetraphocomelia?", "seeds": [ "Tetraphocomelia" ], "gold_answer": "Phocomelia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08952", "question": "What is associated with Paraseptal?", "seeds": [ "Paraseptal" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08953", "question": "What phenotype is associated with Hypertrophic neuropathy of dejerine-sottas?", "seeds": [ "Hypertrophic neuropathy of dejerine-sottas" ], "gold_answer": "Hyporeflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08954", "question": "What is associated with Glomerular proteinuria?", "seeds": [ "Glomerular proteinuria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08955", "question": "What phenotype is associated with Aniridia-renal agenesis-psychomotor retardation syndrome?", "seeds": [ "Aniridia-renal agenesis-psychomotor retardation syndrome" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08956", "question": "What is associated with Cardiorespiratory arrest?", "seeds": [ "Cardiorespiratory arrest" ], "gold_answer": "Respiratory arrest", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08957", "question": "What is associated with Periorbital hyperpigmentation?", "seeds": [ "Periorbital hyperpigmentation" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08958", "question": "What is associated with Bilateral basilar pulmonary fibrosis?", "seeds": [ "Bilateral basilar pulmonary fibrosis" ], "gold_answer": "Pulmonary fibrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08959", "question": "What is associated with Mitochondrial DNA depletion syndrome, hepatocerebrorenal form?", "seeds": [ "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form" ], "gold_answer": "TWNK", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_08960", "question": "What is associated with EEG with parietal epileptiform discharges?", "seeds": [ "EEG with parietal epileptiform discharges" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08961", "question": "What phenotype is associated with Solitary median maxillary central incisor?", "seeds": [ "Solitary median maxillary central incisor" ], "gold_answer": "Choanal atresia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08962", "question": "What is associated with Richards-Rundle syndrome?", "seeds": [ "Richards-Rundle syndrome" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08963", "question": "What is associated with Xq21 microdeletion syndrome?", "seeds": [ "Xq21 microdeletion syndrome" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08964", "question": "What is associated with Thrombophiliavenous thromboembolism, included?", "seeds": [ "Thrombophiliavenous thromboembolism, included" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08965", "question": "What is associated with Aplasia/Hypoplasia of the tragus?", "seeds": [ "Aplasia/Hypoplasia of the tragus" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08966", "question": "What is associated with Melasma?", "seeds": [ "Melasma" ], "gold_answer": "Hyperpigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08967", "question": "What is associated with Positive meconium methadone test?", "seeds": [ "Positive meconium methadone test" ], "gold_answer": "Stool xenobiotic", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08968", "question": "What is associated with Renal medullary interstitial inflammation?", "seeds": [ "Renal medullary interstitial inflammation" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08969", "question": "What is associated with Aortopulmonary collateral arteries?", "seeds": [ "Aortopulmonary collateral arteries" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08970", "question": "What is associated with Blood group antigen abnormality?", "seeds": [ "Blood group antigen abnormality" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08971", "question": "What is associated with Complete duplication of the middle phalanx of the 5th toe?", "seeds": [ "Complete duplication of the middle phalanx of the 5th toe" ], "gold_answer": "Duplication of the middle phalanx of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08972", "question": "What is associated with Brain malformation-congenital heart disease-postaxial polydactyly syndrome?", "seeds": [ "Brain malformation-congenital heart disease-postaxial polydactyly syndrome" ], "gold_answer": "Hand polydactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08973", "question": "What phenotype is associated with Idiopathic steroid-resistant nephrotic syndrome?", "seeds": [ "Idiopathic steroid-resistant nephrotic syndrome" ], "gold_answer": "Minimal change glomerulonephritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08974", "question": "What is associated with Ureteral obstruction?", "seeds": [ "Ureteral obstruction" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08975", "question": "What phenotype is associated with Bone mineral density QTL 15?", "seeds": [ "Bone mineral density QTL 15" ], "gold_answer": "Recurrent fractures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08976", "question": "What is associated with Increased fecal isocoproporphyrin?", "seeds": [ "Increased fecal isocoproporphyrin" ], "gold_answer": "Increased fecal porphyrin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08977", "question": "What is associated with Fibromuscular dysplasia, multifocal?", "seeds": [ "Fibromuscular dysplasia, multifocal" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08978", "question": "What phenotype is associated with Congenital myopathy 10B, mild variant?", "seeds": [ "Congenital myopathy 10B, mild variant" ], "gold_answer": "Difficulty climbing stairs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08979", "question": "What is associated with Abnormality of the distal phalanx of the 5th toe?", "seeds": [ "Abnormality of the distal phalanx of the 5th toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08980", "question": "What is associated with Atrophodermia vermiculata?", "seeds": [ "Atrophodermia vermiculata" ], "gold_answer": "Scarring", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08981", "question": "What is associated with Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies?", "seeds": [ "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" ], "gold_answer": "Abnormality of the curvature of the cornea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08982", "question": "What is associated with Abnormality of inferior alveolar nerve?", "seeds": [ "Abnormality of inferior alveolar nerve" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08983", "question": "What phenotype is associated with Hyperparathyroidism, transient neonatal?", "seeds": [ "Hyperparathyroidism, transient neonatal" ], "gold_answer": "Subperiosteal bone formation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08984", "question": "What is associated with PRUNE1-related neurological syndrome?", "seeds": [ "PRUNE1-related neurological syndrome" ], "gold_answer": "Cortical dysplasia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08985", "question": "What is associated with Glomerular fibronectin deposits?", "seeds": [ "Glomerular fibronectin deposits" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08986", "question": "What is associated with Glycopeptiduria?", "seeds": [ "Glycopeptiduria" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08987", "question": "What is associated with Subcutaneous emphysema?", "seeds": [ "Subcutaneous emphysema" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08988", "question": "What is associated with Sorsby fundus dystrophy?", "seeds": [ "Sorsby fundus dystrophy" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08989", "question": "What phenotype is associated with Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome?", "seeds": [ "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08990", "question": "What is associated with Frequent Giardia lamblia infestation?", "seeds": [ "Frequent Giardia lamblia infestation" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08991", "question": "What is associated with Generalized clonic seizure?", "seeds": [ "Generalized clonic seizure" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08992", "question": "What is associated with Idiopathic anaphylaxis?", "seeds": [ "Idiopathic anaphylaxis" ], "gold_answer": "Anaphylactic shock", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_08993", "question": "What is associated with Deviation of the hand or of fingers of the hand?", "seeds": [ "Deviation of the hand or of fingers of the hand" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08994", "question": "What is associated with Amelogenesis imperfecta, type IIA5?", "seeds": [ "Amelogenesis imperfecta, type IIA5" ], "gold_answer": "Abnormal dental morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08995", "question": "What is associated with Polyclonal elevated circulating IgE concentration?", "seeds": [ "Polyclonal elevated circulating IgE concentration" ], "gold_answer": "Increased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08996", "question": "What is associated with Renal fibrosis?", "seeds": [ "Renal fibrosis" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_08997", "question": "What phenotype is associated with Alcohol sensitivity, acute?", "seeds": [ "Alcohol sensitivity, acute" ], "gold_answer": "Reduced acetaldehyde dehydrogenase level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_08998", "question": "What is associated with Anal canal squamous cell carcinoma?", "seeds": [ "Anal canal squamous cell carcinoma" ], "gold_answer": "Neoplasm of the large intestine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_08999", "question": "What is associated with Placental abruption?", "seeds": [ "Placental abruption" ], "gold_answer": "Abnormal placenta morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09000", "question": "What is associated with Intellectual developmental disorder, X-linked 90?", "seeds": [ "Intellectual developmental disorder, X-linked 90" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09001", "question": "What phenotype is associated with Rett syndrome?", "seeds": [ "Rett syndrome" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09002", "question": "What is associated with Irregular epiphysis of the middle phalanx of the 5th finger?", "seeds": [ "Irregular epiphysis of the middle phalanx of the 5th finger" ], "gold_answer": "Abnormality of the epiphyses of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09003", "question": "What is associated with Webbed penis?", "seeds": [ "Webbed penis" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09004", "question": "What is associated with IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2?", "seeds": [ "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2" ], "gold_answer": "Abnormal urine cytology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09005", "question": "What is associated with Exudative vitreoretinopathy 3?", "seeds": [ "Exudative vitreoretinopathy 3" ], "gold_answer": "Retinal perforation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09006", "question": "What is associated with Chromosome 3q29 duplication syndrome?", "seeds": [ "Chromosome 3q29 duplication syndrome" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09007", "question": "What phenotype is associated with Microphthalmia, isolated, with coloboma 9?", "seeds": [ "Microphthalmia, isolated, with coloboma 9" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09008", "question": "What is associated with Absent nasal septal cartilage?", "seeds": [ "Absent nasal septal cartilage" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09009", "question": "What phenotype is associated with Leukemia, acute lymphocytic, susceptibility to, 1?", "seeds": [ "Leukemia, acute lymphocytic, susceptibility to, 1" ], "gold_answer": "Acute lymphoblastic leukemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09010", "question": "What is associated with Positive anterior drawer test?", "seeds": [ "Positive anterior drawer test" ], "gold_answer": "Abnormality of the ankle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09011", "question": "What is associated with Odonto-onycho dysplasia-alopecia syndrome?", "seeds": [ "Odonto-onycho dysplasia-alopecia syndrome" ], "gold_answer": "Abnormal toenail morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09012", "question": "What is associated with Coronary cameral fistula to right ventricle?", "seeds": [ "Coronary cameral fistula to right ventricle" ], "gold_answer": "Coronary artery fistula", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09013", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 76?", "seeds": [ "Autosomal recessive spastic paraplegia type 76" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09014", "question": "What is associated with Ambiguous genitalia, male?", "seeds": [ "Ambiguous genitalia, male" ], "gold_answer": "Abnormal external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09015", "question": "What is associated with Jaw contracture?", "seeds": [ "Jaw contracture" ], "gold_answer": "Joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09016", "question": "What is associated with Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities?", "seeds": [ "Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities" ], "gold_answer": "Abnormal cerebral cortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09017", "question": "What is associated with Hydrolethalus syndrome 1?", "seeds": [ "Hydrolethalus syndrome 1" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09018", "question": "What is associated with Spinocerebellar ataxia 13?", "seeds": [ "Spinocerebellar ataxia 13" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09019", "question": "What is associated with Hypodysplasia of the corpus callosum?", "seeds": [ "Hypodysplasia of the corpus callosum" ], "gold_answer": "Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09020", "question": "What is associated with Nematode in retina?", "seeds": [ "Nematode in retina" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09021", "question": "What phenotype is associated with Antithrombin III deficiency?", "seeds": [ "Antithrombin III deficiency" ], "gold_answer": "Recurrent thrombophlebitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09022", "question": "What phenotype is associated with Heterotaxy, visceral, 1, X-linked?", "seeds": [ "Heterotaxy, visceral, 1, X-linked" ], "gold_answer": "Abnormality of pulmonary situs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09023", "question": "What is associated with Decreased renal tubular phosphate excretion?", "seeds": [ "Decreased renal tubular phosphate excretion" ], "gold_answer": "Abnormality of renal excretion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09024", "question": "What phenotype is associated with Immunodeficiency 93 and hypertrophic cardiomyopathy?", "seeds": [ "Immunodeficiency 93 and hypertrophic cardiomyopathy" ], "gold_answer": "Palpitations", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09025", "question": "What is associated with Limb joint contracture?", "seeds": [ "Limb joint contracture" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09026", "question": "What is associated with Marshall-Smith syndrome?", "seeds": [ "Marshall-Smith syndrome" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09027", "question": "What phenotype is associated with Chronic granulomatous disease 2, autosomal recessive?", "seeds": [ "Chronic granulomatous disease 2, autosomal recessive" ], "gold_answer": "Axillary lymphadenopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09028", "question": "What is associated with Physical urticaria?", "seeds": [ "Physical urticaria" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09029", "question": "What is associated with Rest dyspnea?", "seeds": [ "Rest dyspnea" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09030", "question": "What is associated with Abnormality of the testis size?", "seeds": [ "Abnormality of the testis size" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09031", "question": "What is associated with Increased circulating IgD concentration?", "seeds": [ "Increased circulating IgD concentration" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09032", "question": "What is associated with Abnormal pulmonary valve physiology?", "seeds": [ "Abnormal pulmonary valve physiology" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09033", "question": "What is associated with Arthrogryposis, distal, type 1A?", "seeds": [ "Arthrogryposis, distal, type 1A" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09034", "question": "What is associated with Abnormal ulnar styloid process morphology?", "seeds": [ "Abnormal ulnar styloid process morphology" ], "gold_answer": "Abnormal ulnar epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09035", "question": "What is associated with Mandibular condyle hypoplasia?", "seeds": [ "Mandibular condyle hypoplasia" ], "gold_answer": "Micrognathia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09036", "question": "What is associated with Absent lanugo?", "seeds": [ "Absent lanugo" ], "gold_answer": "Abnormal fetal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09037", "question": "What is associated with Microspherophakia?", "seeds": [ "Microspherophakia" ], "gold_answer": "Aplasia/Hypoplasia affecting the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09038", "question": "What is associated with Epilepsy, early-onset, 3, with or without developmental delay?", "seeds": [ "Epilepsy, early-onset, 3, with or without developmental delay" ], "gold_answer": "Infection-related seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09039", "question": "What is associated with Distal symphalangism?", "seeds": [ "Distal symphalangism" ], "gold_answer": "Synostosis of joints", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09040", "question": "What is associated with Social anxiety?", "seeds": [ "Social anxiety" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09041", "question": "What is associated with Renal arteriole medial atrophy?", "seeds": [ "Renal arteriole medial atrophy" ], "gold_answer": "Abnormal renal arteriole intima/media morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09042", "question": "What is associated with Abnormal circulating dicarboxylic acid concentration?", "seeds": [ "Abnormal circulating dicarboxylic acid concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09043", "question": "What is associated with Hyperparathyroidism 1?", "seeds": [ "Hyperparathyroidism 1" ], "gold_answer": "Abnormality of the parathyroid physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09044", "question": "What is associated with Urinary bladder sphincter dysfunction?", "seeds": [ "Urinary bladder sphincter dysfunction" ], "gold_answer": "Abnormality of the lower urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09045", "question": "What is associated with Partial absence of specific antibody response to unconjugated pneumococcus vaccine?", "seeds": [ "Partial absence of specific antibody response to unconjugated pneumococcus vaccine" ], "gold_answer": "Decreased circulating level of specific antibody", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09046", "question": "What is associated with Scheuermann-like vertebral changes?", "seeds": [ "Scheuermann-like vertebral changes" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09047", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 62?", "seeds": [ "Autosomal recessive spastic paraplegia type 62" ], "gold_answer": "Lower limb spasticity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09048", "question": "What is associated with Florid cemento-osseous dysplasia?", "seeds": [ "Florid cemento-osseous dysplasia" ], "gold_answer": "Bone cyst", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09049", "question": "What is associated with Cementum hypoplasia?", "seeds": [ "Cementum hypoplasia" ], "gold_answer": "Abnormal cementum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09050", "question": "What is associated with Facial hemangioma?", "seeds": [ "Facial hemangioma" ], "gold_answer": "Vascular neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09051", "question": "What is associated with Short iliac bones?", "seeds": [ "Short iliac bones" ], "gold_answer": "Abnormal hip bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09052", "question": "What is associated with Reduced contraction of the left ventricular apex?", "seeds": [ "Reduced contraction of the left ventricular apex" ], "gold_answer": "Abnormal cardiac ventricular function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09053", "question": "What is associated with Immunodeficiency 133 with autoimmunity and autoinflammation?", "seeds": [ "Immunodeficiency 133 with autoimmunity and autoinflammation" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09054", "question": "What is associated with Fragile teeth?", "seeds": [ "Fragile teeth" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09055", "question": "What is associated with Vici syndrome?", "seeds": [ "Vici syndrome" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09056", "question": "What is associated with Oral-pharyngeal dysphagia?", "seeds": [ "Oral-pharyngeal dysphagia" ], "gold_answer": "Dysphagia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09057", "question": "What is associated with Abnormality of vitamin metabolism?", "seeds": [ "Abnormality of vitamin metabolism" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09058", "question": "What is associated with Elevated circulating linoleylcarnitine concentration?", "seeds": [ "Elevated circulating linoleylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09059", "question": "What is associated with Anti-tissue transglutaminase antibody positivity?", "seeds": [ "Anti-tissue transglutaminase antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09060", "question": "What is associated with Retinal capillary hemangioma?", "seeds": [ "Retinal capillary hemangioma" ], "gold_answer": "Hemangioblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09061", "question": "What is associated with Fractured manual digit bone?", "seeds": [ "Fractured manual digit bone" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09062", "question": "What is associated with Paraparesis?", "seeds": [ "Paraparesis" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09063", "question": "What phenotype is associated with PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement?", "seeds": [ "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement" ], "gold_answer": "Palmoplantar blistering", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09064", "question": "What phenotype is associated with Arachnoid cyst?", "seeds": [ "Arachnoid cyst" ], "gold_answer": "Respiratory insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09065", "question": "What is associated with Enlarged joints?", "seeds": [ "Enlarged joints" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09066", "question": "What is associated with Splayed fingers?", "seeds": [ "Splayed fingers" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09067", "question": "What is associated with Cold-induced muscle cramps?", "seeds": [ "Cold-induced muscle cramps" ], "gold_answer": "Muscle spasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09068", "question": "What is associated with Bacteria allergy?", "seeds": [ "Bacteria allergy" ], "gold_answer": "Allergy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09069", "question": "What phenotype is associated with Immunodeficiency 48?", "seeds": [ "Immunodeficiency 48" ], "gold_answer": "Chronic diarrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09070", "question": "What is associated with Distal deletion 10p syndrome?", "seeds": [ "Distal deletion 10p syndrome" ], "gold_answer": "Abnormality of the cervical spine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09071", "question": "What is associated with Lip hyperpigmentation?", "seeds": [ "Lip hyperpigmentation" ], "gold_answer": "Abnormal lip pigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09072", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 57?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 57" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09073", "question": "What phenotype is associated with Pentalogy of Cantrell?", "seeds": [ "Pentalogy of Cantrell" ], "gold_answer": "Vesicoureteral reflux", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09074", "question": "What is associated with Recombinant 8 syndrome?", "seeds": [ "Recombinant 8 syndrome" ], "gold_answer": "Abnormality of the gingiva", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09075", "question": "What is associated with Medial humerus epicondyle avulsion fracture?", "seeds": [ "Medial humerus epicondyle avulsion fracture" ], "gold_answer": "Abnormal medial epicondyle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09076", "question": "What is associated with Nephropathy?", "seeds": [ "Nephropathy" ], "gold_answer": "Abnormality of the urinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09077", "question": "What is associated with Abnormal erythroid lineage cell morphology?", "seeds": [ "Abnormal erythroid lineage cell morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09078", "question": "What is associated with Aplasia/Hypoplasia of the distal phalanx of the 3rd toe?", "seeds": [ "Aplasia/Hypoplasia of the distal phalanx of the 3rd toe" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09079", "question": "What phenotype is associated with Arterial dissection-lentiginosis syndrome?", "seeds": [ "Arterial dissection-lentiginosis syndrome" ], "gold_answer": "Hemiparesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09080", "question": "What phenotype is associated with Autism spectrum disorder due to AUTS2 deficiency?", "seeds": [ "Autism spectrum disorder due to AUTS2 deficiency" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09081", "question": "What is associated with Toxemia of pregnancy?", "seeds": [ "Toxemia of pregnancy" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09082", "question": "What is associated with Thyrotoxic periodic paralysis, susceptibility to, 1?", "seeds": [ "Thyrotoxic periodic paralysis, susceptibility to, 1" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09083", "question": "What is associated with Hiker's feet?", "seeds": [ "Hiker's feet" ], "gold_answer": "Abnormality of the plantar skin of foot", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09084", "question": "What is associated with X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency?", "seeds": [ "X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09085", "question": "What is associated with Huriez syndrome?", "seeds": [ "Huriez syndrome" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09086", "question": "What phenotype is associated with Hypogonadotropic hypogonadism 14 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 14 with or without anosmia" ], "gold_answer": "Primary amenorrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09087", "question": "What is associated with Pathological inclusion body by anatomical location?", "seeds": [ "Pathological inclusion body by anatomical location" ], "gold_answer": "Pathological inclusion body", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09088", "question": "What is associated with Diaphyseal medullary stenosis-bone malignancy syndrome?", "seeds": [ "Diaphyseal medullary stenosis-bone malignancy syndrome" ], "gold_answer": "MTAP", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09089", "question": "What is associated with Foveal retinal pigment epithelial loss on macular OCT?", "seeds": [ "Foveal retinal pigment epithelial loss on macular OCT" ], "gold_answer": "Abnormal retinal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09090", "question": "What is associated with Progressive bifocal chorioretinal atrophy?", "seeds": [ "Progressive bifocal chorioretinal atrophy" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09091", "question": "What is associated with Abnormality of the xiphoid process?", "seeds": [ "Abnormality of the xiphoid process" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09092", "question": "What phenotype is associated with CHIME syndrome?", "seeds": [ "CHIME syndrome" ], "gold_answer": "Thin corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09093", "question": "What is associated with Labial adhesion?", "seeds": [ "Labial adhesion" ], "gold_answer": "Abnormal labia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09094", "question": "What phenotype is associated with Spastic paraplegia 36, autosomal dominant?", "seeds": [ "Spastic paraplegia 36, autosomal dominant" ], "gold_answer": "Pes cavus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09095", "question": "What is associated with Panhypopituitarism, X-linked?", "seeds": [ "Panhypopituitarism, X-linked" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09096", "question": "What is associated with Chronic hepatitis due to cryptosporidium infection?", "seeds": [ "Chronic hepatitis due to cryptosporidium infection" ], "gold_answer": "Hepatitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09097", "question": "What is associated with Automatic atrial tachycardia?", "seeds": [ "Automatic atrial tachycardia" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09098", "question": "What is associated with Abnormality of the first metatarsal bone?", "seeds": [ "Abnormality of the first metatarsal bone" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09099", "question": "What is associated with Intestinal perforation?", "seeds": [ "Intestinal perforation" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09100", "question": "What is associated with Anti-annexin-V antibody positivity?", "seeds": [ "Anti-annexin-V antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09101", "question": "What is associated with Spinal cord tumor?", "seeds": [ "Spinal cord tumor" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09102", "question": "What is associated with Fractured thoracic vertebra?", "seeds": [ "Fractured thoracic vertebra" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09103", "question": "What is associated with Methylmalonyl-Coa epimerase deficiency?", "seeds": [ "Methylmalonyl-Coa epimerase deficiency" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09104", "question": "What is associated with Hypothyroidism, congenital, nongoitrous, 7?", "seeds": [ "Hypothyroidism, congenital, nongoitrous, 7" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09105", "question": "What is associated with Mucolipidosis IV?", "seeds": [ "Mucolipidosis IV" ], "gold_answer": "Sensory behavioral abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09106", "question": "What is associated with Myxomatous mitral valve degeneration?", "seeds": [ "Myxomatous mitral valve degeneration" ], "gold_answer": "Abnormal atrioventricular valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09107", "question": "What is associated with Symptomatic seizures?", "seeds": [ "Symptomatic seizures" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09108", "question": "What is associated with Fractured patella?", "seeds": [ "Fractured patella" ], "gold_answer": "Abnormality of the knee", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09109", "question": "What phenotype is associated with Wilms tumor 5?", "seeds": [ "Wilms tumor 5" ], "gold_answer": "Nephroblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09110", "question": "What is associated with Decreased specific anti-polysaccharide antibody level?", "seeds": [ "Decreased specific anti-polysaccharide antibody level" ], "gold_answer": "Decreased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09111", "question": "What is associated with Elevated leukocyte alkaline phosphatase?", "seeds": [ "Elevated leukocyte alkaline phosphatase" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09112", "question": "What phenotype is associated with Mosaic trisomy 15 syndrome?", "seeds": [ "Mosaic trisomy 15 syndrome" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09113", "question": "What is associated with Glomerular subendothelial electron-dense deposits?", "seeds": [ "Glomerular subendothelial electron-dense deposits" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09114", "question": "What is associated with Pustulosis palmaris et plantaris?", "seeds": [ "Pustulosis palmaris et plantaris" ], "gold_answer": "IL36RN", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09115", "question": "What is associated with Limb duplication?", "seeds": [ "Limb duplication" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09116", "question": "What is associated with Dysostosis multiplex?", "seeds": [ "Dysostosis multiplex" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09117", "question": "What is associated with Hypothyroidism due to deficient transcription factors involved in pituitary development or function?", "seeds": [ "Hypothyroidism due to deficient transcription factors involved in pituitary development or function" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09118", "question": "What is associated with High anterior hairline?", "seeds": [ "High anterior hairline" ], "gold_answer": "Abnormality of the hairline", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09119", "question": "What phenotype is associated with Hydrocephalus, endocardial fibroelastosis, and cataracts?", "seeds": [ "Hydrocephalus, endocardial fibroelastosis, and cataracts" ], "gold_answer": "Endocardial fibroelastosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09120", "question": "What is associated with Slender middle phalanx of finger?", "seeds": [ "Slender middle phalanx of finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09121", "question": "What is associated with Increased endomysial connective tissue?", "seeds": [ "Increased endomysial connective tissue" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09122", "question": "What is associated with Hypoplastic ventricle?", "seeds": [ "Hypoplastic ventricle" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09123", "question": "What is associated with Increased serum sorbitol concentration?", "seeds": [ "Increased serum sorbitol concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09124", "question": "What is associated with Japanese encephalitis?", "seeds": [ "Japanese encephalitis" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09125", "question": "What is associated with Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts?", "seeds": [ "Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09126", "question": "What is associated with Short intermamillary distance?", "seeds": [ "Short intermamillary distance" ], "gold_answer": "Abnormal nipple morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09127", "question": "What is associated with Corneal crystals?", "seeds": [ "Corneal crystals" ], "gold_answer": "Opacification of the corneal stroma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09128", "question": "What is associated with Abnormality of hair growth?", "seeds": [ "Abnormality of hair growth" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09129", "question": "What is associated with Metachromatic leukodystrophy, adult form?", "seeds": [ "Metachromatic leukodystrophy, adult form" ], "gold_answer": "ARSA", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_09130", "question": "What is associated with Growth hormone deficiency, isolated, type IB?", "seeds": [ "Growth hormone deficiency, isolated, type IB" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09131", "question": "What is associated with Abnormal distal ulnar epiphysis morphology?", "seeds": [ "Abnormal distal ulnar epiphysis morphology" ], "gold_answer": "Abnormal ulnar epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09132", "question": "What phenotype is associated with Autosomal dominant severe congenital neutropenia?", "seeds": [ "Autosomal dominant severe congenital neutropenia" ], "gold_answer": "Leukemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09133", "question": "What is associated with Fetal distress?", "seeds": [ "Fetal distress" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09134", "question": "What is associated with Metaphyseal undermodelling?", "seeds": [ "Metaphyseal undermodelling" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09135", "question": "What is associated with Pleural plaque?", "seeds": [ "Pleural plaque" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09136", "question": "What is associated with Pinhole visual acuity 1.2 LogMAR?", "seeds": [ "Pinhole visual acuity 1.2 LogMAR" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09137", "question": "What is associated with Infantile LAD-like disease due to RAC2 deficiency?", "seeds": [ "Infantile LAD-like disease due to RAC2 deficiency" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09138", "question": "What phenotype is associated with Lethal hemolytic anemia-genital anomalies syndrome?", "seeds": [ "Lethal hemolytic anemia-genital anomalies syndrome" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09139", "question": "What is associated with Flared metaphysis?", "seeds": [ "Flared metaphysis" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09140", "question": "What is associated with Abnormal pectoral muscle morphology?", "seeds": [ "Abnormal pectoral muscle morphology" ], "gold_answer": "Abnormality of the musculature of the thorax", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09141", "question": "What is associated with Spinocerebellar ataxia 19?", "seeds": [ "Spinocerebellar ataxia 19" ], "gold_answer": "Gaze-evoked nystagmus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09142", "question": "What is associated with Otospondylomegaepiphyseal dysplasia?", "seeds": [ "Otospondylomegaepiphyseal dysplasia" ], "gold_answer": "Abnormality of the mouth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09143", "question": "What is associated with Androgen insufficiency?", "seeds": [ "Androgen insufficiency" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09144", "question": "What is associated with Bifid clitoris?", "seeds": [ "Bifid clitoris" ], "gold_answer": "Abnormal female external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09145", "question": "What is associated with Aplasia/hypoplasia of the proximal phalanx of the 2nd toe?", "seeds": [ "Aplasia/hypoplasia of the proximal phalanx of the 2nd toe" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09146", "question": "What is associated with Broad ischia?", "seeds": [ "Broad ischia" ], "gold_answer": "Abnormal hip bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09147", "question": "What is associated with Undetectable light- and dark-adapted electroretinogram?", "seeds": [ "Undetectable light- and dark-adapted electroretinogram" ], "gold_answer": "Abnormal electroretinogram", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09148", "question": "What is associated with Small finger?", "seeds": [ "Small finger" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09149", "question": "What is associated with Posterior mediastinal mass?", "seeds": [ "Posterior mediastinal mass" ], "gold_answer": "Inferior mediastinal mass", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09150", "question": "What is associated with Elevated circulating medium-chain acylcarnitine concentration?", "seeds": [ "Elevated circulating medium-chain acylcarnitine concentration" ], "gold_answer": "Abnormal circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09151", "question": "What is associated with Glomerular endocapillary leukocyte hypercellularity?", "seeds": [ "Glomerular endocapillary leukocyte hypercellularity" ], "gold_answer": "Abnormal glomerular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09152", "question": "What is associated with Abnormal wrist physiology?", "seeds": [ "Abnormal wrist physiology" ], "gold_answer": "Abnormality of the wrist", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09153", "question": "What is associated with Decreased plasma free carnitine?", "seeds": [ "Decreased plasma free carnitine" ], "gold_answer": "Decreased circulating carnitine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09154", "question": "What is associated with Healthy?", "seeds": [ "Healthy" ], "gold_answer": "Health status", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09155", "question": "What is associated with Pigment incontinence?", "seeds": [ "Pigment incontinence" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09156", "question": "What is associated with Mild hemophilia A?", "seeds": [ "Mild hemophilia A" ], "gold_answer": "F8", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09157", "question": "What is associated with Celiac disease, susceptibility to, 1?", "seeds": [ "Celiac disease, susceptibility to, 1" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09158", "question": "What is associated with Abnormal natural killer cell morphology?", "seeds": [ "Abnormal natural killer cell morphology" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09159", "question": "What is associated with Progressive supranuclear palsy-progressive non-fluent aphasia syndrome?", "seeds": [ "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09160", "question": "What phenotype is associated with Episodic ataxia, type 8?", "seeds": [ "Episodic ataxia, type 8" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09161", "question": "What is associated with Rib gap?", "seeds": [ "Rib gap" ], "gold_answer": "Abnormal rib morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09162", "question": "What is associated with Joubert syndrome 9?", "seeds": [ "Joubert syndrome 9" ], "gold_answer": "Atrophy/Degeneration affecting the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09163", "question": "What is associated with Intra-epidermal blistering?", "seeds": [ "Intra-epidermal blistering" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09164", "question": "What is associated with Hypopigmentation-punctate palmoplantar keratoderma syndrome?", "seeds": [ "Hypopigmentation-punctate palmoplantar keratoderma syndrome" ], "gold_answer": "ENPP1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09165", "question": "What is associated with Optic disc coloboma?", "seeds": [ "Optic disc coloboma" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09166", "question": "What phenotype is associated with Microcephaly, epilepsy, and diabetes syndrome 2?", "seeds": [ "Microcephaly, epilepsy, and diabetes syndrome 2" ], "gold_answer": "Bilateral tonic-clonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09167", "question": "What is associated with Nasal mucosa vasculitis?", "seeds": [ "Nasal mucosa vasculitis" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09168", "question": "What is associated with Cutis laxa, autosomal recessive, type IIB?", "seeds": [ "Cutis laxa, autosomal recessive, type IIB" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09169", "question": "What is associated with Osteogenesis imperfecta, type VI?", "seeds": [ "Osteogenesis imperfecta, type VI" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09170", "question": "What is associated with Spinocerebellar ataxia 31?", "seeds": [ "Spinocerebellar ataxia 31" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09171", "question": "What is associated with Aplasia/Hypoplasia of the vertebrae?", "seeds": [ "Aplasia/Hypoplasia of the vertebrae" ], "gold_answer": "Aplasia/hypoplasia involving the skeleton", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09172", "question": "What is associated with Prolonged bleeding time?", "seeds": [ "Prolonged bleeding time" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09173", "question": "What is associated with Macrophthalmia, colobomatous, with microcornea?", "seeds": [ "Macrophthalmia, colobomatous, with microcornea" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09174", "question": "What is associated with Decreased muscle caveolin-3 level?", "seeds": [ "Decreased muscle caveolin-3 level" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09175", "question": "What is associated with Hyperextensible skin of chest?", "seeds": [ "Hyperextensible skin of chest" ], "gold_answer": "Focal hyperextensible skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09176", "question": "What is associated with Irregular epiphysis of the distal phalanx of the 2nd toe?", "seeds": [ "Irregular epiphysis of the distal phalanx of the 2nd toe" ], "gold_answer": "Irregular epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09177", "question": "What is associated with Mesenteric torsion?", "seeds": [ "Mesenteric torsion" ], "gold_answer": "Abnormal mesentery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09178", "question": "What is associated with Deja vu aura?", "seeds": [ "Deja vu aura" ], "gold_answer": "Psychic epileptic aura", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09179", "question": "What is associated with Yellow-brown discoloration of the teeth?", "seeds": [ "Yellow-brown discoloration of the teeth" ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09180", "question": "What is associated with Dust particle inclusion in alveolar macrophages?", "seeds": [ "Dust particle inclusion in alveolar macrophages" ], "gold_answer": "Abnormal cellular composition of bronchoalveolar fluid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09181", "question": "What is associated with Megalencephaly with dysmyelination?", "seeds": [ "Megalencephaly with dysmyelination" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09182", "question": "What phenotype is associated with Deafness, autosomal recessive 115?", "seeds": [ "Deafness, autosomal recessive 115" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09183", "question": "What phenotype is associated with Congenital alopecia totalis?", "seeds": [ "Congenital alopecia totalis" ], "gold_answer": "Fragile nails", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09184", "question": "What phenotype is associated with Cornelia de Lange syndrome 3?", "seeds": [ "Cornelia de Lange syndrome 3" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09185", "question": "What is associated with Oligoclonal elevation of circulating IgM?", "seeds": [ "Oligoclonal elevation of circulating IgM" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09186", "question": "What is associated with 10q22.3q23.3 microduplication syndrome?", "seeds": [ "10q22.3q23.3 microduplication syndrome" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09187", "question": "What is associated with Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome?", "seeds": [ "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09188", "question": "What is associated with Muscular ventricular septal defect?", "seeds": [ "Muscular ventricular septal defect" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09189", "question": "What is associated with Distal 5th toe symphalangism?", "seeds": [ "Distal 5th toe symphalangism" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09190", "question": "What is associated with Maternal uniparental disomy of chromosome X syndrome?", "seeds": [ "Maternal uniparental disomy of chromosome X syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09191", "question": "What phenotype is associated with Diarrhea 13?", "seeds": [ "Diarrhea 13" ], "gold_answer": "Recurrent hypoglycemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09192", "question": "What is associated with Urethral stricture?", "seeds": [ "Urethral stricture" ], "gold_answer": "Urethral obstruction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09193", "question": "What is associated with Corticospinal tract atrophy?", "seeds": [ "Corticospinal tract atrophy" ], "gold_answer": "Atrophy/Degeneration involving the corticospinal tracts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09194", "question": "What is associated with Abnormal caudate nucleus morphology?", "seeds": [ "Abnormal caudate nucleus morphology" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09195", "question": "What is associated with Elevated urinary thymine level?", "seeds": [ "Elevated urinary thymine level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09196", "question": "What is associated with Generalized bone demineralization?", "seeds": [ "Generalized bone demineralization" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09197", "question": "What phenotype is associated with 3-methylglutaconic aciduria type 9?", "seeds": [ "3-methylglutaconic aciduria type 9" ], "gold_answer": "3-Methylglutaconic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09198", "question": "What is associated with Arthrogryposis multiplex congenita with whistling face?", "seeds": [ "Arthrogryposis multiplex congenita with whistling face" ], "gold_answer": "Abnormality of mouth shape", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09199", "question": "What is associated with Paroxysmal cold hemoglobinuria?", "seeds": [ "Paroxysmal cold hemoglobinuria" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09200", "question": "What is associated with Paroxysmal non-kinesigenic dyskinesia?", "seeds": [ "Paroxysmal non-kinesigenic dyskinesia" ], "gold_answer": "Abnormal neck morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09201", "question": "What is associated with Asymmetry of the breasts?", "seeds": [ "Asymmetry of the breasts" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09202", "question": "What is associated with Muscle fiber actin filament accumulation?", "seeds": [ "Muscle fiber actin filament accumulation" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09203", "question": "What is associated with Jaw swelling?", "seeds": [ "Jaw swelling" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09204", "question": "What is associated with Complex renal cyst?", "seeds": [ "Complex renal cyst" ], "gold_answer": "Renal cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09205", "question": "What is associated with EEG with generalized epileptiform discharges?", "seeds": [ "EEG with generalized epileptiform discharges" ], "gold_answer": "Interictal EEG abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09206", "question": "What is associated with Neoplasm of the genitourinary tract?", "seeds": [ "Neoplasm of the genitourinary tract" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09207", "question": "What is associated with Athabaskan brainstem dysgenesis syndrome?", "seeds": [ "Athabaskan brainstem dysgenesis syndrome" ], "gold_answer": "Hypoventilation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09208", "question": "What is associated with Pear-shaped nose?", "seeds": [ "Pear-shaped nose" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09209", "question": "What phenotype is associated with Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency?", "seeds": [ "Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" ], "gold_answer": "Hemolytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09210", "question": "What is associated with Intraretinal hemorrhage?", "seeds": [ "Intraretinal hemorrhage" ], "gold_answer": "Retinal hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09211", "question": "What is associated with Anterior synechiae of the anterior chamber?", "seeds": [ "Anterior synechiae of the anterior chamber" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09212", "question": "What is associated with Epiphyseal stippling of finger phalanges?", "seeds": [ "Epiphyseal stippling of finger phalanges" ], "gold_answer": "Abnormal hand bone ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09213", "question": "What is associated with Abnormal synovial cavity morphology?", "seeds": [ "Abnormal synovial cavity morphology" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09214", "question": "What phenotype is associated with Tumor predisposition syndrome 2?", "seeds": [ "Tumor predisposition syndrome 2" ], "gold_answer": "Colon cancer", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09215", "question": "What is associated with Dermatitis herpetiformis, familial?", "seeds": [ "Dermatitis herpetiformis, familial" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09216", "question": "What is associated with Binasal hemianopia?", "seeds": [ "Binasal hemianopia" ], "gold_answer": "Hemianopia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09217", "question": "What phenotype is associated with Cutis laxa, autosomal recessive, type IID?", "seeds": [ "Cutis laxa, autosomal recessive, type IID" ], "gold_answer": "Ventricular septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09218", "question": "What is associated with Porokeratosis 6, disseminated superficial Actinic type?", "seeds": [ "Porokeratosis 6, disseminated superficial Actinic type" ], "gold_answer": "Epidermal thickening", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09219", "question": "What is associated with Abnormal oral mucosa morphology?", "seeds": [ "Abnormal oral mucosa morphology" ], "gold_answer": "Abnormality of the mouth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09220", "question": "What is associated with Chromosome 2q37 deletion syndrome?", "seeds": [ "Chromosome 2q37 deletion syndrome" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09221", "question": "What is associated with Osteoglophonic dysplasia?", "seeds": [ "Osteoglophonic dysplasia" ], "gold_answer": "Abnormal neck morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09222", "question": "What is associated with Osteogenesis imperfecta type 2?", "seeds": [ "Osteogenesis imperfecta type 2" ], "gold_answer": "PPIB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09223", "question": "What is associated with Iliac vein compression?", "seeds": [ "Iliac vein compression" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09224", "question": "What is associated with Scrotal hyperpigmentation?", "seeds": [ "Scrotal hyperpigmentation" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09225", "question": "What is associated with Kaposiform hemangioendothelioma?", "seeds": [ "Kaposiform hemangioendothelioma" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09226", "question": "What phenotype is associated with Immunodeficiency 15?", "seeds": [ "Immunodeficiency 15" ], "gold_answer": "Reduced total natural killer cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09227", "question": "What is associated with Lactic acidosis, chronic adult form?", "seeds": [ "Lactic acidosis, chronic adult form" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09228", "question": "What is associated with Unusual infection?", "seeds": [ "Unusual infection" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09229", "question": "What is associated with Short 3rd metacarpal?", "seeds": [ "Short 3rd metacarpal" ], "gold_answer": "Abnormal 3rd metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09230", "question": "What is associated with Distal ulnar epiphyseal stippling?", "seeds": [ "Distal ulnar epiphyseal stippling" ], "gold_answer": "Abnormal ulnar epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09231", "question": "What is associated with Elevated circulating growth hormone concentration?", "seeds": [ "Elevated circulating growth hormone concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09232", "question": "What is associated with Macular dystrophy, butterfly-shaped pigmentary, 2?", "seeds": [ "Macular dystrophy, butterfly-shaped pigmentary, 2" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09233", "question": "What is associated with Benign hereditary chorea?", "seeds": [ "Benign hereditary chorea" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09234", "question": "What is associated with Tented philtrum?", "seeds": [ "Tented philtrum" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09235", "question": "What is associated with Focal aware pedal automatism seizure?", "seeds": [ "Focal aware pedal automatism seizure" ], "gold_answer": "Focal automatism seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09236", "question": "What is associated with Cardiomyopathy, familial hypertrophic 27?", "seeds": [ "Cardiomyopathy, familial hypertrophic 27" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09237", "question": "What is associated with Distal lower limb muscle weakness?", "seeds": [ "Distal lower limb muscle weakness" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09238", "question": "What is associated with Abnormal circulating potassium concentration?", "seeds": [ "Abnormal circulating potassium concentration" ], "gold_answer": "Abnormal blood ion concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09239", "question": "What phenotype is associated with Tetraploidy syndrome?", "seeds": [ "Tetraploidy syndrome" ], "gold_answer": "Cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09240", "question": "What is associated with Atelis syndrome 2?", "seeds": [ "Atelis syndrome 2" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09241", "question": "What is associated with Abnormal brain creatine level by MRS?", "seeds": [ "Abnormal brain creatine level by MRS" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09242", "question": "What is associated with Flattened epiphysis?", "seeds": [ "Flattened epiphysis" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09243", "question": "What phenotype is associated with Peroxisome biogenesis disorder 13A (Zellweger)?", "seeds": [ "Peroxisome biogenesis disorder 13A (Zellweger)" ], "gold_answer": "Dolichocephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09244", "question": "What is associated with Maceration?", "seeds": [ "Maceration" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09245", "question": "What is associated with Abnormal response to ACTH stimulation test?", "seeds": [ "Abnormal response to ACTH stimulation test" ], "gold_answer": "Abnormal endocrine physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09246", "question": "What is associated with Absent epiphysis of the distal phalanx of the 2nd toe?", "seeds": [ "Absent epiphysis of the distal phalanx of the 2nd toe" ], "gold_answer": "Absent epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09247", "question": "What is associated with Abnormal blood cation concentration?", "seeds": [ "Abnormal blood cation concentration" ], "gold_answer": "Abnormal blood ion concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09248", "question": "What is associated with Pituitary gonadotropic cell adenoma?", "seeds": [ "Pituitary gonadotropic cell adenoma" ], "gold_answer": "Neoplasm of the pituitary gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09249", "question": "What phenotype is associated with Cataract, crystalline aculeiform?", "seeds": [ "Cataract, crystalline aculeiform" ], "gold_answer": "Developmental cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09250", "question": "What is associated with Displaced anterior fontanelle?", "seeds": [ "Displaced anterior fontanelle" ], "gold_answer": "Abnormal cranial suture/fontanelle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09251", "question": "What is associated with Recurrent Staphylococcus aureus infections?", "seeds": [ "Recurrent Staphylococcus aureus infections" ], "gold_answer": "Recurrent bacterial infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09252", "question": "What is associated with Abnormal pulmonary valve physiology?", "seeds": [ "Abnormal pulmonary valve physiology" ], "gold_answer": "Abnormal heart valve physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09253", "question": "What is associated with Neurodevelopmental disorder with speech delay and behavioral abnormalities?", "seeds": [ "Neurodevelopmental disorder with speech delay and behavioral abnormalities" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09254", "question": "What is associated with Joubert syndrome 16?", "seeds": [ "Joubert syndrome 16" ], "gold_answer": "Cerebellar cyst", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09255", "question": "What is associated with Anterior rib cupping?", "seeds": [ "Anterior rib cupping" ], "gold_answer": "Cupped ribs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09256", "question": "What is associated with Reduced quantity of Von Willebrand factor?", "seeds": [ "Reduced quantity of Von Willebrand factor" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09257", "question": "What phenotype is associated with Distal hereditary motor neuropathy type 5?", "seeds": [ "Distal hereditary motor neuropathy type 5" ], "gold_answer": "First dorsal interossei muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09258", "question": "What is associated with Abnormality of skin adnexa physiology?", "seeds": [ "Abnormality of skin adnexa physiology" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09259", "question": "What is associated with Malar flattening?", "seeds": [ "Malar flattening" ], "gold_answer": "Abnormal zygomatic bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09260", "question": "What is associated with Laryngeal cleft?", "seeds": [ "Laryngeal cleft" ], "gold_answer": "Abnormal larynx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09261", "question": "What is associated with Cardiomyopathy, dilated, 1QQ?", "seeds": [ "Cardiomyopathy, dilated, 1QQ" ], "gold_answer": "Abnormal left ventricular function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09262", "question": "What is associated with Febrile seizure outside the age of 3 months to 6 years?", "seeds": [ "Febrile seizure outside the age of 3 months to 6 years" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09263", "question": "What is associated with Clumping of elastic fibers in the dermis?", "seeds": [ "Clumping of elastic fibers in the dermis" ], "gold_answer": "Abnormal cutaneous elastic fiber morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09264", "question": "What is associated with Hemochromatosis, type 3?", "seeds": [ "Hemochromatosis, type 3" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09265", "question": "What is associated with Autosomal spastic paraplegia type 30?", "seeds": [ "Autosomal spastic paraplegia type 30" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09266", "question": "What is associated with Myopathic Ehlers-Danlos syndrome?", "seeds": [ "Myopathic Ehlers-Danlos syndrome" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09267", "question": "What is associated with Conjunctival papillae?", "seeds": [ "Conjunctival papillae" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09268", "question": "What is associated with Multifocal neonatal sequential seizure?", "seeds": [ "Multifocal neonatal sequential seizure" ], "gold_answer": "Neonatal electro-clinical seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09269", "question": "What phenotype is associated with Neurodevelopmental disorder with language impairment and behavioral abnormalities?", "seeds": [ "Neurodevelopmental disorder with language impairment and behavioral abnormalities" ], "gold_answer": "Self-injurious behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09270", "question": "What is associated with Bullet-shaped distal phalanges of the hand?", "seeds": [ "Bullet-shaped distal phalanges of the hand" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09271", "question": "What is associated with Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome?", "seeds": [ "Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" ], "gold_answer": "Premature ventricular contraction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09272", "question": "What is associated with Clinodactyly of the 2nd toe?", "seeds": [ "Clinodactyly of the 2nd toe" ], "gold_answer": "Abnormal second toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09273", "question": "What phenotype is associated with Locked-in syndrome?", "seeds": [ "Locked-in syndrome" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09274", "question": "What is associated with Congenital cataracts, facial dysmorphism, and neuropathy?", "seeds": [ "Congenital cataracts, facial dysmorphism, and neuropathy" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09275", "question": "What is associated with White forelock?", "seeds": [ "White forelock" ], "gold_answer": "Patchy hypopigmentation of hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09276", "question": "What is associated with Lower extremity subcutanous fat hypertrophy?", "seeds": [ "Lower extremity subcutanous fat hypertrophy" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09277", "question": "What is associated with Aortic valve calcification?", "seeds": [ "Aortic valve calcification" ], "gold_answer": "Cardiovascular calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09278", "question": "What phenotype is associated with RAPADILINO syndrome?", "seeds": [ "RAPADILINO syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the patella", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09279", "question": "What phenotype is associated with Central incisors, absence of?", "seeds": [ "Central incisors, absence of" ], "gold_answer": "Agenesis of central incisor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09280", "question": "What is associated with Fibrodysplasia ossificans progressiva?", "seeds": [ "Fibrodysplasia ossificans progressiva" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09281", "question": "What is associated with Single coronary artery origin?", "seeds": [ "Single coronary artery origin" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09282", "question": "What is associated with Moderate hearing impairment?", "seeds": [ "Moderate hearing impairment" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09283", "question": "What is associated with Supernumerary tracheal bronchus?", "seeds": [ "Supernumerary tracheal bronchus" ], "gold_answer": "Abnormal bronchus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09284", "question": "What is associated with Anti-Mi2 antibody positivity?", "seeds": [ "Anti-Mi2 antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09285", "question": "What is associated with APUdoma?", "seeds": [ "APUdoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09286", "question": "What is associated with Hypoplastic areola?", "seeds": [ "Hypoplastic areola" ], "gold_answer": "Abnormal areolar morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09287", "question": "What is associated with Glomerular hyaline subepithelial deposits?", "seeds": [ "Glomerular hyaline subepithelial deposits" ], "gold_answer": "Glomerular deposits", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09288", "question": "What is associated with Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation?", "seeds": [ "Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation" ], "gold_answer": "H1-4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09289", "question": "What is associated with Bracket epiphysis of the proximal phalanx of the 5th finger?", "seeds": [ "Bracket epiphysis of the proximal phalanx of the 5th finger" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09290", "question": "What is associated with Amyloidosis, primary localized cutaneous, 3?", "seeds": [ "Amyloidosis, primary localized cutaneous, 3" ], "gold_answer": "Macule", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09291", "question": "What is associated with 46,XX difference of sex development-skeletal anomalies syndrome?", "seeds": [ "46,XX difference of sex development-skeletal anomalies syndrome" ], "gold_answer": "Abnormality of the humeroradial joint", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09292", "question": "What is associated with Axial dystonia?", "seeds": [ "Axial dystonia" ], "gold_answer": "Dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09293", "question": "What is associated with Decreased FOXP3-expressing T cell count?", "seeds": [ "Decreased FOXP3-expressing T cell count" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09294", "question": "What is associated with Avoidance of stimuli associated with traumatic event?", "seeds": [ "Avoidance of stimuli associated with traumatic event" ], "gold_answer": "Abnormal fear-induced behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09295", "question": "What is associated with Cerebral degeneration?", "seeds": [ "Cerebral degeneration" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09296", "question": "What is associated with Radiation proctitis?", "seeds": [ "Radiation proctitis" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09297", "question": "What is associated with Spinocerebellar ataxia type 32?", "seeds": [ "Spinocerebellar ataxia type 32" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09298", "question": "What phenotype is associated with Muscular dystrophy, congenital, with cataracts and intellectual disability?", "seeds": [ "Muscular dystrophy, congenital, with cataracts and intellectual disability" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09299", "question": "What is associated with Difficulty floating in water?", "seeds": [ "Difficulty floating in water" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09300", "question": "What is associated with Formiminotransferase deficiency?", "seeds": [ "Formiminotransferase deficiency" ], "gold_answer": "Abnormal circulating phenylalanine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09301", "question": "What is associated with Peripapillary exudate?", "seeds": [ "Peripapillary exudate" ], "gold_answer": "Retinal exudate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09302", "question": "What is associated with Anti-desmoglein-3 antibody positivity?", "seeds": [ "Anti-desmoglein-3 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09303", "question": "What is associated with Abnormal erythrocyte adenosine deaminase activity?", "seeds": [ "Abnormal erythrocyte adenosine deaminase activity" ], "gold_answer": "Abnormal erythrocyte enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09304", "question": "What phenotype is associated with Deafness, autosomal dominant 3B?", "seeds": [ "Deafness, autosomal dominant 3B" ], "gold_answer": "Adult onset sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09305", "question": "What is associated with Abnormal branching pattern of the aortic arch?", "seeds": [ "Abnormal branching pattern of the aortic arch" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09306", "question": "What is associated with Abnormality of intrinsic muscle of tongue?", "seeds": [ "Abnormality of intrinsic muscle of tongue" ], "gold_answer": "Abnormality of the tongue muscle", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09307", "question": "What phenotype is associated with Dyskeratosis congenita, autosomal dominant 3?", "seeds": [ "Dyskeratosis congenita, autosomal dominant 3" ], "gold_answer": "Esophageal stricture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09308", "question": "What is associated with Hyperconvex nail?", "seeds": [ "Hyperconvex nail" ], "gold_answer": "Nail dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09309", "question": "What is associated with Elevated urinary 3-aminoisobutyric acid?", "seeds": [ "Elevated urinary 3-aminoisobutyric acid" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09310", "question": "What is associated with Bartter syndrome type 5?", "seeds": [ "Bartter syndrome type 5" ], "gold_answer": "MAGED2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09311", "question": "What is associated with Supraumbilical raphe?", "seeds": [ "Supraumbilical raphe" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09312", "question": "What is associated with Secondary vesicoureteral reflux?", "seeds": [ "Secondary vesicoureteral reflux" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09313", "question": "What is associated with Closed fracture?", "seeds": [ "Closed fracture" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09314", "question": "What is associated with Leukodystrophy, hypomyelinating, 24?", "seeds": [ "Leukodystrophy, hypomyelinating, 24" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09315", "question": "What is associated with Acute disseminated encephalomyelitis?", "seeds": [ "Acute disseminated encephalomyelitis" ], "gold_answer": "Infection following live vaccination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09316", "question": "What is associated with Abnormal Esterman grid perimetry test?", "seeds": [ "Abnormal Esterman grid perimetry test" ], "gold_answer": "Abnormal static automated perimetry test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09317", "question": "What is associated with Urethral fistula?", "seeds": [ "Urethral fistula" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09318", "question": "What is associated with Delta-beta-thalassemia?", "seeds": [ "Delta-beta-thalassemia" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09319", "question": "What is associated with Myopia 28, autosomal recessive?", "seeds": [ "Myopia 28, autosomal recessive" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09320", "question": "What is associated with Abnormal distal toe phalanx morphology?", "seeds": [ "Abnormal distal toe phalanx morphology" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09321", "question": "What is associated with 46,XX sex reversal 2?", "seeds": [ "46,XX sex reversal 2" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09322", "question": "What is associated with Triangular epiphysis of the middle phalanx of the 5th finger?", "seeds": [ "Triangular epiphysis of the middle phalanx of the 5th finger" ], "gold_answer": "Triangular epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09323", "question": "What is associated with Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type" ], "gold_answer": "Abnormal tongue morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09324", "question": "What is associated with Tibial arterial calcification?", "seeds": [ "Tibial arterial calcification" ], "gold_answer": "Arterial calcification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09325", "question": "What is associated with Cholestasis, progressive familial intrahepatic 1?", "seeds": [ "Cholestasis, progressive familial intrahepatic 1" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09326", "question": "What phenotype is associated with Chromosome 22q13 duplication syndrome?", "seeds": [ "Chromosome 22q13 duplication syndrome" ], "gold_answer": "Upslanted palpebral fissure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09327", "question": "What is associated with Extraskeletal Ewing sarcoma?", "seeds": [ "Extraskeletal Ewing sarcoma" ], "gold_answer": "FLI1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_09328", "question": "What is associated with Hypoplastic pelvis?", "seeds": [ "Hypoplastic pelvis" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09329", "question": "What is associated with ISPD-related limb-girdle muscular dystrophy R20?", "seeds": [ "ISPD-related limb-girdle muscular dystrophy R20" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09330", "question": "What is associated with Elevated CSF apolipoprotein B concentration?", "seeds": [ "Elevated CSF apolipoprotein B concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09331", "question": "What is associated with Discontinuous ascending root of helix?", "seeds": [ "Discontinuous ascending root of helix" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09332", "question": "What is associated with GM1-gangliosidosis, type II?", "seeds": [ "GM1-gangliosidosis, type II" ], "gold_answer": "Brain atrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09333", "question": "What phenotype is associated with Microphthalmia, syndromic 7?", "seeds": [ "Microphthalmia, syndromic 7" ], "gold_answer": "Premature birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09334", "question": "What is associated with Abnormal hair whorl?", "seeds": [ "Abnormal hair whorl" ], "gold_answer": "Congenital abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09335", "question": "What is associated with Transient hypophosphatemia?", "seeds": [ "Transient hypophosphatemia" ], "gold_answer": "Abnormal blood phosphate concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09336", "question": "What is associated with Elevated circulating 3-hydroxyanthranilic acid concentration?", "seeds": [ "Elevated circulating 3-hydroxyanthranilic acid concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09337", "question": "What is associated with Right ventricular regional dyskinesia?", "seeds": [ "Right ventricular regional dyskinesia" ], "gold_answer": "Abnormal right ventricular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09338", "question": "What is associated with Short proximal phalanx of the 5th toe?", "seeds": [ "Short proximal phalanx of the 5th toe" ], "gold_answer": "Absent toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09339", "question": "What is associated with Right atrial enlargement?", "seeds": [ "Right atrial enlargement" ], "gold_answer": "Abnormal cardiac atrium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09340", "question": "What is associated with Flatulence?", "seeds": [ "Flatulence" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09341", "question": "What phenotype is associated with Hyper-IgE recurrent infection syndrome?", "seeds": [ "Hyper-IgE recurrent infection syndrome" ], "gold_answer": "Abnormal toenail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09342", "question": "What is associated with Polymorphic and polytopic ventricular extrasystoles?", "seeds": [ "Polymorphic and polytopic ventricular extrasystoles" ], "gold_answer": "Ventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09343", "question": "What is associated with Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal?", "seeds": [ "Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal" ], "gold_answer": "Abnormality of the plantar skin of foot", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09344", "question": "What is associated with Positive brain-tissue rabies nucleic acid test?", "seeds": [ "Positive brain-tissue rabies nucleic acid test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09345", "question": "What is associated with Cone-shaped epiphysis of the middle phalanx of the 2nd finger?", "seeds": [ "Cone-shaped epiphysis of the middle phalanx of the 2nd finger" ], "gold_answer": "Phalangeal cone-shaped epiphyses", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09346", "question": "What is associated with Anti-parotid secretory protein antibody positivity?", "seeds": [ "Anti-parotid secretory protein antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09347", "question": "What phenotype is associated with Heart-hand syndrome, Slovenian type?", "seeds": [ "Heart-hand syndrome, Slovenian type" ], "gold_answer": "Aplasia of the middle phalanx of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09348", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 41?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 41" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09349", "question": "What is associated with Arcuate artery intima/media granulomatous arteriitis?", "seeds": [ "Arcuate artery intima/media granulomatous arteriitis" ], "gold_answer": "Abnormal arcuate artery intima/media morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09350", "question": "What is associated with Autism susceptibility 1?", "seeds": [ "Autism susceptibility 1" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09351", "question": "What is associated with Autism spectrum disorder due to AUTS2 deficiency?", "seeds": [ "Autism spectrum disorder due to AUTS2 deficiency" ], "gold_answer": "Abnormal nostril morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09352", "question": "What is associated with Fragmented sleep?", "seeds": [ "Fragmented sleep" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09353", "question": "What is associated with Abnormality of the pancreas?", "seeds": [ "Abnormality of the pancreas" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09354", "question": "What is associated with Grade II vesicoureteral reflux?", "seeds": [ "Grade II vesicoureteral reflux" ], "gold_answer": "Vesicoureteral reflux", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09355", "question": "What is associated with Small epiphyses of the 3rd finger?", "seeds": [ "Small epiphyses of the 3rd finger" ], "gold_answer": "Small epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09356", "question": "What is associated with Abnormal sarcomere morphology?", "seeds": [ "Abnormal sarcomere morphology" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09357", "question": "What phenotype is associated with Microcephaly and chorioretinopathy, autosomal recessive, 2?", "seeds": [ "Microcephaly and chorioretinopathy, autosomal recessive, 2" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09358", "question": "What is associated with Abnormality of frontal process of maxilla?", "seeds": [ "Abnormality of frontal process of maxilla" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09359", "question": "What is associated with Wrist pain?", "seeds": [ "Wrist pain" ], "gold_answer": "Upper limb pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09360", "question": "What is associated with Alsahan-Harris syndrome?", "seeds": [ "Alsahan-Harris syndrome" ], "gold_answer": "Disproportionate short stature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09361", "question": "What phenotype is associated with Epilepsy idiopathic generalized, susceptibility to, 8?", "seeds": [ "Epilepsy idiopathic generalized, susceptibility to, 8" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09362", "question": "What is associated with Telangiectases producing 'marbled' skin?", "seeds": [ "Telangiectases producing 'marbled' skin" ], "gold_answer": "Telangiectasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09363", "question": "What is associated with Syndactyly, mesoaxial synostotic, with phalangeal reduction?", "seeds": [ "Syndactyly, mesoaxial synostotic, with phalangeal reduction" ], "gold_answer": "Abnormality of the phalanges of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09364", "question": "What is associated with Multifocal epileptiform discharges?", "seeds": [ "Multifocal epileptiform discharges" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09365", "question": "What is associated with Shield chest?", "seeds": [ "Shield chest" ], "gold_answer": "Enlarged thorax", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09366", "question": "What phenotype is associated with Hydroxykynureninuria?", "seeds": [ "Hydroxykynureninuria" ], "gold_answer": "Headache", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09367", "question": "What is associated with Mesangial matrix expansion?", "seeds": [ "Mesangial matrix expansion" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09368", "question": "What is associated with Hepatocellular adenoma?", "seeds": [ "Hepatocellular adenoma" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09369", "question": "What phenotype is associated with Marfanoid habitus-autosomal recessive intellectual disability syndrome?", "seeds": [ "Marfanoid habitus-autosomal recessive intellectual disability syndrome" ], "gold_answer": "Broad philtrum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09370", "question": "What is associated with Optic nerve glioma?", "seeds": [ "Optic nerve glioma" ], "gold_answer": "Glioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09371", "question": "What is associated with Diffuse cerebral atrophy?", "seeds": [ "Diffuse cerebral atrophy" ], "gold_answer": "Atrophy/Degeneration affecting the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09372", "question": "What is associated with Rajab interstitial lung disease with brain calcifications 2?", "seeds": [ "Rajab interstitial lung disease with brain calcifications 2" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09373", "question": "What is associated with Pelvic organ prolapse?", "seeds": [ "Pelvic organ prolapse" ], "gold_answer": "Abnormal large intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09374", "question": "What is associated with Diarrhea 9?", "seeds": [ "Diarrhea 9" ], "gold_answer": "Abnormal small intestinal mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09375", "question": "What is associated with Central retinal vessel vascular tortuosity?", "seeds": [ "Central retinal vessel vascular tortuosity" ], "gold_answer": "Retinal arterial tortuosity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09376", "question": "What is associated with Aplasia/Hypoplasia involving the corticospinal tracts?", "seeds": [ "Aplasia/Hypoplasia involving the corticospinal tracts" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09377", "question": "What is associated with Abnormality of renal excretion?", "seeds": [ "Abnormality of renal excretion" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09378", "question": "What phenotype is associated with Fragile site 16q22?", "seeds": [ "Fragile site 16q22" ], "gold_answer": "Infertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09379", "question": "What is associated with Abnormal visual field test?", "seeds": [ "Abnormal visual field test" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09380", "question": "What is associated with EEG with generalized spikes?", "seeds": [ "EEG with generalized spikes" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09381", "question": "What is associated with 48,XYYY syndrome?", "seeds": [ "48,XYYY syndrome" ], "gold_answer": "Impairment in personality functioning", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09382", "question": "What phenotype is associated with Martsolf syndrome 1?", "seeds": [ "Martsolf syndrome 1" ], "gold_answer": "Constipation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09383", "question": "What is associated with Abnormal pelvic girdle bone morphology?", "seeds": [ "Abnormal pelvic girdle bone morphology" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09384", "question": "What is associated with Local paresthesia at bite site?", "seeds": [ "Local paresthesia at bite site" ], "gold_answer": "Paresthesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09385", "question": "What is associated with Ivory epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Ivory epiphysis of the proximal phalanx of the 4th finger" ], "gold_answer": "Ivory epiphyses of the 4th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09386", "question": "What is associated with PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome?", "seeds": [ "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" ], "gold_answer": "Abnormality of the philtrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09387", "question": "What is associated with Neurodevelopmental disorder with progressive spasticity and brain abnormalities?", "seeds": [ "Neurodevelopmental disorder with progressive spasticity and brain abnormalities" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09388", "question": "What is associated with Deficient ossification of hand bones?", "seeds": [ "Deficient ossification of hand bones" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09389", "question": "What is associated with Polydactyly, postaxial, types A1 and B?", "seeds": [ "Polydactyly, postaxial, types A1 and B" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09390", "question": "What is associated with Ichthyosis, congenital, autosomal recessive 4B?", "seeds": [ "Ichthyosis, congenital, autosomal recessive 4B" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09391", "question": "What is associated with Insulin autoimmune syndrome?", "seeds": [ "Insulin autoimmune syndrome" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09392", "question": "What phenotype is associated with Early infantile developmental and epileptic encephalopathy?", "seeds": [ "Early infantile developmental and epileptic encephalopathy" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09393", "question": "What is associated with Abnormal protein N-linked glycosylation?", "seeds": [ "Abnormal protein N-linked glycosylation" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09394", "question": "What phenotype is associated with Immunodeficiency 88?", "seeds": [ "Immunodeficiency 88" ], "gold_answer": "Increased total eosinophil count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09395", "question": "What is associated with Cenani-Lenz syndrome?", "seeds": [ "Cenani-Lenz syndrome" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09396", "question": "What is associated with Premature coronary artery atherosclerosis?", "seeds": [ "Premature coronary artery atherosclerosis" ], "gold_answer": "Arteriosclerosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09397", "question": "What is associated with Olmsted syndrome 2?", "seeds": [ "Olmsted syndrome 2" ], "gold_answer": "Palmar hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09398", "question": "What is associated with Cartilaginous ossification of nose?", "seeds": [ "Cartilaginous ossification of nose" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09399", "question": "What is associated with Microcephaly-seizures-intellectual disability-heart disease syndrome?", "seeds": [ "Microcephaly-seizures-intellectual disability-heart disease syndrome" ], "gold_answer": "Esodeviation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09400", "question": "What phenotype is associated with Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive?", "seeds": [ "Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09401", "question": "What is associated with Hypertropia?", "seeds": [ "Hypertropia" ], "gold_answer": "Hyperdeviation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09402", "question": "What is associated with Elevated circulating thymine concentration?", "seeds": [ "Elevated circulating thymine concentration" ], "gold_answer": "Abnormal circulating pyrimidine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09403", "question": "What phenotype is associated with Orofaciodigital syndrome XIV?", "seeds": [ "Orofaciodigital syndrome XIV" ], "gold_answer": "Holoprosencephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09404", "question": "What is associated with Cluster headache, familial?", "seeds": [ "Cluster headache, familial" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09405", "question": "What is associated with Palmoplantar keratoderma, epidermolytic?", "seeds": [ "Palmoplantar keratoderma, epidermolytic" ], "gold_answer": "Abnormal circulating IgE concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09406", "question": "What is associated with Enlarged metacarpal epiphyses?", "seeds": [ "Enlarged metacarpal epiphyses" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09407", "question": "What is associated with Calcium phosphate nephrolithiasis?", "seeds": [ "Calcium phosphate nephrolithiasis" ], "gold_answer": "Calcium nephrolithiasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09408", "question": "What is associated with Premature pubarche?", "seeds": [ "Premature pubarche" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09409", "question": "What is associated with Focal cortical dysplasia type Ic?", "seeds": [ "Focal cortical dysplasia type Ic" ], "gold_answer": "Focal cortical dysplasia type Ib", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09410", "question": "What is associated with Abnormal total T cell count?", "seeds": [ "Abnormal total T cell count" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09411", "question": "What is associated with Myopathy, lactic acidosis, and sideroblastic anemia 1?", "seeds": [ "Myopathy, lactic acidosis, and sideroblastic anemia 1" ], "gold_answer": "Erythrocyte inclusion bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09412", "question": "What is associated with Partial duplication of the phalanx of hand?", "seeds": [ "Partial duplication of the phalanx of hand" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09413", "question": "What is associated with Decreased stool elastase level?", "seeds": [ "Decreased stool elastase level" ], "gold_answer": "Abnormal stool composition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09414", "question": "What is associated with Podocytic mitochondrial proliferation?", "seeds": [ "Podocytic mitochondrial proliferation" ], "gold_answer": "Abnormal glomerular visceral epithelial cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09415", "question": "What is associated with Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia?", "seeds": [ "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09416", "question": "What is associated with Reticular pattern on pulmonary HRCT?", "seeds": [ "Reticular pattern on pulmonary HRCT" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09417", "question": "What is associated with Spinocerebellar ataxia type 17?", "seeds": [ "Spinocerebellar ataxia type 17" ], "gold_answer": "Atrophy/Degeneration affecting the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09418", "question": "What is associated with Fractured vertebra?", "seeds": [ "Fractured vertebra" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09419", "question": "What is associated with Spastic paraplegia type 7?", "seeds": [ "Spastic paraplegia type 7" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09420", "question": "What is associated with Impaired ocular abduction?", "seeds": [ "Impaired ocular abduction" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09421", "question": "What is associated with Abnormality of the radioulnar joints?", "seeds": [ "Abnormality of the radioulnar joints" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09422", "question": "What is associated with Diminished MSH6 expression?", "seeds": [ "Diminished MSH6 expression" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09423", "question": "What is associated with Amelia involving the upper limbs?", "seeds": [ "Amelia involving the upper limbs" ], "gold_answer": "Aplasia/hypoplasia of the extremities", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09424", "question": "What is associated with Spastic paraplegia 42, autosomal dominant?", "seeds": [ "Spastic paraplegia 42, autosomal dominant" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09425", "question": "What is associated with Uhl's anomaly?", "seeds": [ "Uhl's anomaly" ], "gold_answer": "Congenital malformation of the right heart", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09426", "question": "What is associated with Growth abnormality?", "seeds": [ "Growth abnormality" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09427", "question": "What is associated with Hereditary nonpolyposis colorectal carcinoma?", "seeds": [ "Hereditary nonpolyposis colorectal carcinoma" ], "gold_answer": "Abnormal large intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09428", "question": "What is associated with Pancreatic squamous cell carcinoma?", "seeds": [ "Pancreatic squamous cell carcinoma" ], "gold_answer": "Neoplasm of the pancreas", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09429", "question": "What phenotype is associated with Adult-onset cervical dystonia, DYT23 type?", "seeds": [ "Adult-onset cervical dystonia, DYT23 type" ], "gold_answer": "Writer's cramp", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09430", "question": "What is associated with Bounding pulse?", "seeds": [ "Bounding pulse" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09431", "question": "What is associated with Autosomal dominant spastic paraplegia type 9A?", "seeds": [ "Autosomal dominant spastic paraplegia type 9A" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09432", "question": "What is associated with Deafness, neurosensory, autosomal recessive 7?", "seeds": [ "Deafness, neurosensory, autosomal recessive 7" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09433", "question": "What is associated with Abnormal distribution of CD56 bright/dim natural killer cells?", "seeds": [ "Abnormal distribution of CD56 bright/dim natural killer cells" ], "gold_answer": "Abnormal natural killer subset distribution", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09434", "question": "What phenotype is associated with Retinal dystrophy, iris coloboma, and comedogenic acne syndrome?", "seeds": [ "Retinal dystrophy, iris coloboma, and comedogenic acne syndrome" ], "gold_answer": "Decreased circulating retinol-binding protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09435", "question": "What is associated with Central?", "seeds": [ "Central" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09436", "question": "What is associated with Emery-Dreifuss muscular dystrophy 7, autosomal dominant?", "seeds": [ "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09437", "question": "What is associated with Focal dystonia?", "seeds": [ "Focal dystonia" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09438", "question": "What is associated with Aspiration pneumonia?", "seeds": [ "Aspiration pneumonia" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09439", "question": "What phenotype is associated with Rafiq syndrome?", "seeds": [ "Rafiq syndrome" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09440", "question": "What is associated with Wolfram syndrome?", "seeds": [ "Wolfram syndrome" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09441", "question": "What is associated with Fanconi anemia, complementation group J?", "seeds": [ "Fanconi anemia, complementation group J" ], "gold_answer": "Chromosome breakage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09442", "question": "What is associated with Hallermann-Streiff syndrome?", "seeds": [ "Hallermann-Streiff syndrome" ], "gold_answer": "Sleep-related breathing disorders", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09443", "question": "What is associated with Progressive visual loss?", "seeds": [ "Progressive visual loss" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09444", "question": "What is associated with Delayed eruption of primary teeth?", "seeds": [ "Delayed eruption of primary teeth" ], "gold_answer": "Abnormality of primary teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09445", "question": "What is associated with Squamous Papilloma?", "seeds": [ "Squamous Papilloma" ], "gold_answer": "Neoplasm of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09446", "question": "What is associated with Cone-shaped capital femoral epiphysis?", "seeds": [ "Cone-shaped capital femoral epiphysis" ], "gold_answer": "Abnormal femoral epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09447", "question": "What is associated with Chronic noninfectious lymphadenopathy?", "seeds": [ "Chronic noninfectious lymphadenopathy" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09448", "question": "What is associated with Genetic anticipation with paternal anticipation bias?", "seeds": [ "Genetic anticipation with paternal anticipation bias" ], "gold_answer": "Genetic anticipation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09449", "question": "What is associated with Hypergranulosis?", "seeds": [ "Hypergranulosis" ], "gold_answer": "Epidermal thickening", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09450", "question": "What is associated with Doll-like facies?", "seeds": [ "Doll-like facies" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09451", "question": "What phenotype is associated with Microphthalmia, syndromic 1?", "seeds": [ "Microphthalmia, syndromic 1" ], "gold_answer": "Decreased numbers of nephrons", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09452", "question": "What phenotype is associated with Acute encephalopathy with biphasic seizures and late reduced diffusion?", "seeds": [ "Acute encephalopathy with biphasic seizures and late reduced diffusion" ], "gold_answer": "Takotsubo cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09453", "question": "What is associated with Aplasia/Hypoplasia of the tibia?", "seeds": [ "Aplasia/Hypoplasia of the tibia" ], "gold_answer": "Aplasia/hypoplasia of the extremities", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09454", "question": "What is associated with Embryonal neoplasm?", "seeds": [ "Embryonal neoplasm" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09455", "question": "What is associated with Abnormal fundus fluorescein angiography?", "seeds": [ "Abnormal fundus fluorescein angiography" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09456", "question": "What is associated with Abnormal serum osmolality?", "seeds": [ "Abnormal serum osmolality" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09457", "question": "What is associated with Developmental delay with variable intellectual impairment and behavioral abnormalities?", "seeds": [ "Developmental delay with variable intellectual impairment and behavioral abnormalities" ], "gold_answer": "Abnormality of upper lip vermillion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09458", "question": "What is associated with Abnormal CSF glycine concentration?", "seeds": [ "Abnormal CSF glycine concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09459", "question": "What phenotype is associated with Ataxia-telangiectasia-like disorder 2?", "seeds": [ "Ataxia-telangiectasia-like disorder 2" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09460", "question": "What is associated with Erythrokeratoderma ''en cocardes''?", "seeds": [ "Erythrokeratoderma ''en cocardes''" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09461", "question": "What is associated with 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency?", "seeds": [ "46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" ], "gold_answer": "External genital hypoplasia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09462", "question": "What phenotype is associated with Night blindness, congenital stationary, type 1I?", "seeds": [ "Night blindness, congenital stationary, type 1I" ], "gold_answer": "Tritanomaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09463", "question": "What is associated with Repeated focal motor seizures?", "seeds": [ "Repeated focal motor seizures" ], "gold_answer": "Status epilepticus with prominent motor symptoms", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09464", "question": "What is associated with Lytic defects of humeral diaphysis?", "seeds": [ "Lytic defects of humeral diaphysis" ], "gold_answer": "Abnormal humeral diaphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09465", "question": "What is associated with Developmental retinal vascular malformation?", "seeds": [ "Developmental retinal vascular malformation" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09466", "question": "What is associated with Abnormal Th17 T cell proportion?", "seeds": [ "Abnormal Th17 T cell proportion" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09467", "question": "What is associated with Argininosuccinic aciduria?", "seeds": [ "Argininosuccinic aciduria" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09468", "question": "What is associated with Abnormal vasa vasorum morphology?", "seeds": [ "Abnormal vasa vasorum morphology" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09469", "question": "What is associated with Delusional atmosphere?", "seeds": [ "Delusional atmosphere" ], "gold_answer": "Delusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09470", "question": "What phenotype is associated with Activated PI3K-delta syndrome 1?", "seeds": [ "Activated PI3K-delta syndrome 1" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09471", "question": "What is associated with History of gastric bypass surgery?", "seeds": [ "History of gastric bypass surgery" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09472", "question": "What phenotype is associated with ALG8-CDG?", "seeds": [ "ALG8-CDG" ], "gold_answer": "Abnormality of subcutaneous fat tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09473", "question": "What is associated with Reduced tissue galactocerebrosidase activity?", "seeds": [ "Reduced tissue galactocerebrosidase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09474", "question": "What is associated with Pituitary dwarfism?", "seeds": [ "Pituitary dwarfism" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09475", "question": "What is associated with Dyskeratosis, hereditary benign intraepithelial?", "seeds": [ "Dyskeratosis, hereditary benign intraepithelial" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09476", "question": "What is associated with Periventricular laminar heterotopia?", "seeds": [ "Periventricular laminar heterotopia" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09477", "question": "What is associated with CODAS syndrome?", "seeds": [ "CODAS syndrome" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09478", "question": "What is associated with Reduced granulocyte CD59 level?", "seeds": [ "Reduced granulocyte CD59 level" ], "gold_answer": "Reduced granulocyte surface marker level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09479", "question": "What is associated with Decreased 3-hydroxyisobutyrate dehydrogenase activity?", "seeds": [ "Decreased 3-hydroxyisobutyrate dehydrogenase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09480", "question": "What is associated with Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome?", "seeds": [ "Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09481", "question": "What is associated with Spinocerebellar ataxia type 41?", "seeds": [ "Spinocerebellar ataxia type 41" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09482", "question": "What is associated with Dermoodontodysplasia?", "seeds": [ "Dermoodontodysplasia" ], "gold_answer": "Abnormality of the chin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09483", "question": "What phenotype is associated with Globulin anomaly involving beta (2a)-globulin?", "seeds": [ "Globulin anomaly involving beta (2a)-globulin" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09484", "question": "What is associated with Eosinophil nuclear hypersegmentation?", "seeds": [ "Eosinophil nuclear hypersegmentation" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09485", "question": "What phenotype is associated with Congenital disorder of deglycosylation 1?", "seeds": [ "Congenital disorder of deglycosylation 1" ], "gold_answer": "Brachycephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09486", "question": "What is associated with Contracture of the proximal interphalangeal joint of the 3rd toe?", "seeds": [ "Contracture of the proximal interphalangeal joint of the 3rd toe" ], "gold_answer": "Foot joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09487", "question": "What phenotype is associated with Immunodeficiency, common variable, 12?", "seeds": [ "Immunodeficiency, common variable, 12" ], "gold_answer": "Inflammation of the large intestine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09488", "question": "What is associated with Spondyloperipheral dysplasia-short ulna syndrome?", "seeds": [ "Spondyloperipheral dysplasia-short ulna syndrome" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09489", "question": "What is associated with Tachyphagia?", "seeds": [ "Tachyphagia" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09490", "question": "What phenotype is associated with Sulfhemoglobinemia, congenital?", "seeds": [ "Sulfhemoglobinemia, congenital" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09491", "question": "What is associated with Spasticity, childhood-onset, with hyperglycinemia?", "seeds": [ "Spasticity, childhood-onset, with hyperglycinemia" ], "gold_answer": "Abnormal spinal cord physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09492", "question": "What is associated with Abnormality of the radial head?", "seeds": [ "Abnormality of the radial head" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09493", "question": "What is associated with Empty sella turcica?", "seeds": [ "Empty sella turcica" ], "gold_answer": "Abnormal sella turcica morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09494", "question": "What is associated with Weakness of the intrinsic hand muscles?", "seeds": [ "Weakness of the intrinsic hand muscles" ], "gold_answer": "Abnormality of the musculature of the upper limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09495", "question": "What is associated with Limitation of knee mobility?", "seeds": [ "Limitation of knee mobility" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09496", "question": "What is associated with PR segment elevation?", "seeds": [ "PR segment elevation" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09497", "question": "What phenotype is associated with Optic atrophy--spastic paraplegia syndrome?", "seeds": [ "Optic atrophy--spastic paraplegia syndrome" ], "gold_answer": "Abnormal oral glucose tolerance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09498", "question": "What is associated with Abnormality of somatosensory evoked potentials?", "seeds": [ "Abnormality of somatosensory evoked potentials" ], "gold_answer": "Abnormality of peripheral nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09499", "question": "What is associated with Abnormal uvea morphology?", "seeds": [ "Abnormal uvea morphology" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09500", "question": "What is associated with X-linked inheritance?", "seeds": [ "X-linked inheritance" ], "gold_answer": "Mendelian inheritance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09501", "question": "What phenotype is associated with Muscle glycogenosis, X-linked?", "seeds": [ "Muscle glycogenosis, X-linked" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09502", "question": "What is associated with Elevated circulating biliverdin concentration?", "seeds": [ "Elevated circulating biliverdin concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09503", "question": "What phenotype is associated with Cochleosaccular degeneration-cataract syndrome?", "seeds": [ "Cochleosaccular degeneration-cataract syndrome" ], "gold_answer": "Progressive sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09504", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the 4th toe?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the 4th toe" ], "gold_answer": "Patchy sclerosis of proximal toe phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09505", "question": "What is associated with Multifocal neonatal sequential seizure?", "seeds": [ "Multifocal neonatal sequential seizure" ], "gold_answer": "Neonatal electro-clinical sequential seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09506", "question": "What is associated with Myxoma, intracardiac?", "seeds": [ "Myxoma, intracardiac" ], "gold_answer": "Abnormal heart valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09507", "question": "What is associated with Corneal guttata?", "seeds": [ "Corneal guttata" ], "gold_answer": "Abnormal Descemet membrane morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09508", "question": "What phenotype is associated with Congenital disorder of glycosylation, type IQ?", "seeds": [ "Congenital disorder of glycosylation, type IQ" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09509", "question": "What is associated with Generalized non-motor (absence) seizure?", "seeds": [ "Generalized non-motor (absence) seizure" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09510", "question": "What is associated with Decreased circulating hydroxyproline concentration?", "seeds": [ "Decreased circulating hydroxyproline concentration" ], "gold_answer": "Abnormal circulating glutamine family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09511", "question": "What is associated with Atherosclerosis?", "seeds": [ "Atherosclerosis" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09512", "question": "What is associated with Alpha-methylacetoacetic aciduria?", "seeds": [ "Alpha-methylacetoacetic aciduria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09513", "question": "What is associated with Isolated humero-radial synostosis?", "seeds": [ "Isolated humero-radial synostosis" ], "gold_answer": "Coloboma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09514", "question": "What is associated with Increased effector memory CD8+ T cell proportion?", "seeds": [ "Increased effector memory CD8+ T cell proportion" ], "gold_answer": "Abnormal CD8+ T cell subset proportion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09515", "question": "What is associated with Abnormal circulating IgD concentration?", "seeds": [ "Abnormal circulating IgD concentration" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09516", "question": "What is associated with Alkaline urine?", "seeds": [ "Alkaline urine" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09517", "question": "What is associated with Thickened ribs?", "seeds": [ "Thickened ribs" ], "gold_answer": "Abnormal rib morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09518", "question": "What is associated with Third ray metacarpophalangeal synostosis?", "seeds": [ "Third ray metacarpophalangeal synostosis" ], "gold_answer": "Metacarpal synostosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09519", "question": "What phenotype is associated with Pontocerebellar hypoplasia, type 2D?", "seeds": [ "Pontocerebellar hypoplasia, type 2D" ], "gold_answer": "Irritability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09520", "question": "What phenotype is associated with Myasthenic syndrome, congenital, 4B, fast-channel?", "seeds": [ "Myasthenic syndrome, congenital, 4B, fast-channel" ], "gold_answer": "Ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09521", "question": "What phenotype is associated with Nemaline myopathy 8?", "seeds": [ "Nemaline myopathy 8" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09522", "question": "What is associated with Paravertebral mass?", "seeds": [ "Paravertebral mass" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09523", "question": "What is associated with Pituitary hormone deficiency, combined or isolated, 7?", "seeds": [ "Pituitary hormone deficiency, combined or isolated, 7" ], "gold_answer": "Obesity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09524", "question": "What is associated with Reduced MHC II cell surface expression?", "seeds": [ "Reduced MHC II cell surface expression" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09525", "question": "What is associated with Pulmonary carcinoid tumor?", "seeds": [ "Pulmonary carcinoid tumor" ], "gold_answer": "Neuroendocrine neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09526", "question": "What phenotype is associated with Vesicoureteral reflux 8?", "seeds": [ "Vesicoureteral reflux 8" ], "gold_answer": "Joint hypermobility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09527", "question": "What is associated with Bleeding disorder, platelet-type, 24, autosomal dominant?", "seeds": [ "Bleeding disorder, platelet-type, 24, autosomal dominant" ], "gold_answer": "Abnormal platelet count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09528", "question": "What is associated with Focal aware emotional seizure with anger?", "seeds": [ "Focal aware emotional seizure with anger" ], "gold_answer": "Focal aware emotional seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09529", "question": "What is associated with Methioninuria?", "seeds": [ "Methioninuria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09530", "question": "What phenotype is associated with Hypercalciuria, absorptive, susceptibility to?", "seeds": [ "Hypercalciuria, absorptive, susceptibility to" ], "gold_answer": "Calcium oxalate nephrolithiasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09531", "question": "What is associated with Clinodactyly of the 5th finger?", "seeds": [ "Clinodactyly of the 5th finger" ], "gold_answer": "Deviation of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09532", "question": "What is associated with Retinal vasculitis?", "seeds": [ "Retinal vasculitis" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09533", "question": "What is associated with Electronic cigarette exposure history?", "seeds": [ "Electronic cigarette exposure history" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09534", "question": "What is associated with Multiple bilateral pneumothoraces?", "seeds": [ "Multiple bilateral pneumothoraces" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09535", "question": "What is associated with Abnormality of lateral rectus extra-ocular muscle?", "seeds": [ "Abnormality of lateral rectus extra-ocular muscle" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09536", "question": "What phenotype is associated with Neurodevelopmental disorder with microcephaly and gray sclerae?", "seeds": [ "Neurodevelopmental disorder with microcephaly and gray sclerae" ], "gold_answer": "Lower limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09537", "question": "What is associated with Fractured talus?", "seeds": [ "Fractured talus" ], "gold_answer": "Fractured tarsal bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09538", "question": "What is associated with Joint contracture of the 5th finger?", "seeds": [ "Joint contracture of the 5th finger" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09539", "question": "What is associated with Exocrine pancreatic insufficiency?", "seeds": [ "Exocrine pancreatic insufficiency" ], "gold_answer": "Abnormality of exocrine pancreas physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09540", "question": "What is associated with Abnormal urinary pyrimidine level?", "seeds": [ "Abnormal urinary pyrimidine level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09541", "question": "What is associated with Increased CD4+ memory T cell proportion?", "seeds": [ "Increased CD4+ memory T cell proportion" ], "gold_answer": "Abnormal memory T cell proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09542", "question": "What is associated with Congenital posterior occipital alopecia?", "seeds": [ "Congenital posterior occipital alopecia" ], "gold_answer": "Congenital abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09543", "question": "What phenotype is associated with Bent bone dysplasia syndrome?", "seeds": [ "Bent bone dysplasia syndrome" ], "gold_answer": "Bell-shaped thorax", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09544", "question": "What is associated with Femoral osteopoikilosis?", "seeds": [ "Femoral osteopoikilosis" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09545", "question": "What is associated with Malformation of mandibular premolar?", "seeds": [ "Malformation of mandibular premolar" ], "gold_answer": "Abnormal dental morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09546", "question": "What phenotype is associated with Periventricular nodular heterotopia 9?", "seeds": [ "Periventricular nodular heterotopia 9" ], "gold_answer": "Anotia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09547", "question": "What is associated with Hyperkalemia?", "seeds": [ "Hyperkalemia" ], "gold_answer": "Abnormal blood monovalent inorganic cation concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09548", "question": "What is associated with Fractured scapula?", "seeds": [ "Fractured scapula" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09549", "question": "What is associated with Broad distal phalanx of the 2nd toe?", "seeds": [ "Broad distal phalanx of the 2nd toe" ], "gold_answer": "Broad phalanx of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09550", "question": "What is associated with Myotonia of the jaw?", "seeds": [ "Myotonia of the jaw" ], "gold_answer": "Myotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09551", "question": "What is associated with Medial calcification of medium-sized arteries?", "seeds": [ "Medial calcification of medium-sized arteries" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09552", "question": "What is associated with Neoplasm of the central nervous system?", "seeds": [ "Neoplasm of the central nervous system" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09553", "question": "What is associated with Noonan syndrome 5?", "seeds": [ "Noonan syndrome 5" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09554", "question": "What is associated with Vasculitis by anatomical site?", "seeds": [ "Vasculitis by anatomical site" ], "gold_answer": "Vasculitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09555", "question": "What is associated with Partial duplication of the proximal phalanx of the 2nd finger?", "seeds": [ "Partial duplication of the proximal phalanx of the 2nd finger" ], "gold_answer": "Duplication of phalanx of 2nd finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09556", "question": "What is associated with Triceps aplasia?", "seeds": [ "Triceps aplasia" ], "gold_answer": "Aplasia/Hypoplasia of the triceps", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09557", "question": "What is associated with Parastremmatic dwarfism?", "seeds": [ "Parastremmatic dwarfism" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09558", "question": "What phenotype is associated with Spinal muscular atrophy, Jokela type?", "seeds": [ "Spinal muscular atrophy, Jokela type" ], "gold_answer": "Elevated circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09559", "question": "What is associated with Cross-fusion of the forearm bones?", "seeds": [ "Cross-fusion of the forearm bones" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09560", "question": "What is associated with Osteolytic defects of the phalanges of the 5th toe?", "seeds": [ "Osteolytic defects of the phalanges of the 5th toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09561", "question": "What phenotype is associated with Premature ovarian failure 14?", "seeds": [ "Premature ovarian failure 14" ], "gold_answer": "Primary amenorrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09562", "question": "What is associated with Penoscrotal hypospadias?", "seeds": [ "Penoscrotal hypospadias" ], "gold_answer": "Hypospadias", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09563", "question": "What phenotype is associated with Arthrogryposis, distal, type 12?", "seeds": [ "Arthrogryposis, distal, type 12" ], "gold_answer": "Agenesis of maxillary incisor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09564", "question": "What is associated with Anti-glomerular basement membrane-antibody positivity?", "seeds": [ "Anti-glomerular basement membrane-antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09565", "question": "What is associated with Elevated residual volume?", "seeds": [ "Elevated residual volume" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09566", "question": "What is associated with Frontal polymicrogyria?", "seeds": [ "Frontal polymicrogyria" ], "gold_answer": "Abnormal cerebral cortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09567", "question": "What is associated with Absence of the pulmonary valve?", "seeds": [ "Absence of the pulmonary valve" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09568", "question": "What is associated with Choroid hemorrhage?", "seeds": [ "Choroid hemorrhage" ], "gold_answer": "Hemorrhage of the eye", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09569", "question": "What phenotype is associated with X-LINKED intellectual disability, Abidi type?", "seeds": [ "X-LINKED intellectual disability, Abidi type" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09570", "question": "What phenotype is associated with Mitochondrial complex I deficiency, nuclear type 5?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 5" ], "gold_answer": "Developmental regression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09571", "question": "What phenotype is associated with Glycogen storage disease, type IXa1?", "seeds": [ "Glycogen storage disease, type IXa1" ], "gold_answer": "Elevated circulating hepatic transaminase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09572", "question": "What is associated with Jung syndrome?", "seeds": [ "Jung syndrome" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09573", "question": "What is associated with Delayed cranial suture closure?", "seeds": [ "Delayed cranial suture closure" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09574", "question": "What is associated with Charcot-Marie-Tooth disease, recessive intermediate C?", "seeds": [ "Charcot-Marie-Tooth disease, recessive intermediate C" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09575", "question": "What is associated with Glucocorticoid deficiency 1?", "seeds": [ "Glucocorticoid deficiency 1" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09576", "question": "What phenotype is associated with Tuberous sclerosis-2?", "seeds": [ "Tuberous sclerosis-2" ], "gold_answer": "Subungual fibromas", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09577", "question": "What is associated with Sclerosis of 2nd toe phalanx?", "seeds": [ "Sclerosis of 2nd toe phalanx" ], "gold_answer": "Sclerosis of foot bone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09578", "question": "What is associated with Lithoptysis?", "seeds": [ "Lithoptysis" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09579", "question": "What is associated with Glossitis?", "seeds": [ "Glossitis" ], "gold_answer": "Abnormal tongue morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09580", "question": "What is associated with Pontocerebellar hypoplasia, type 5?", "seeds": [ "Pontocerebellar hypoplasia, type 5" ], "gold_answer": "Hypoplasia of the pons", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09581", "question": "What is associated with Psychomotor deterioration?", "seeds": [ "Psychomotor deterioration" ], "gold_answer": "Cognitive impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09582", "question": "What is associated with Lactase deficiency, congenital?", "seeds": [ "Lactase deficiency, congenital" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09583", "question": "What is associated with Sclerotic foci of the humerus?", "seeds": [ "Sclerotic foci of the humerus" ], "gold_answer": "Humeral sclerosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09584", "question": "What is associated with ANK3-related intellectual disability-sleep disturbance syndrome?", "seeds": [ "ANK3-related intellectual disability-sleep disturbance syndrome" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09585", "question": "What is associated with Scimitar anomaly?", "seeds": [ "Scimitar anomaly" ], "gold_answer": "Anomalous pulmonary venous return", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09586", "question": "What is associated with Abnormal cardiac output?", "seeds": [ "Abnormal cardiac output" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09587", "question": "What is associated with Abnormal 5th metacarpal morphology?", "seeds": [ "Abnormal 5th metacarpal morphology" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09588", "question": "What phenotype is associated with Spermatogenic failure 91?", "seeds": [ "Spermatogenic failure 91" ], "gold_answer": "Oligozoospermia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09589", "question": "What is associated with Ovarian sex cord-stromal tumor?", "seeds": [ "Ovarian sex cord-stromal tumor" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09590", "question": "What is associated with Abnormal fecal osmolality?", "seeds": [ "Abnormal fecal osmolality" ], "gold_answer": "Abnormal stool composition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09591", "question": "What is associated with Paget disease of bone 2, early-onset?", "seeds": [ "Paget disease of bone 2, early-onset" ], "gold_answer": "Abnormal brainstem morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09592", "question": "What is associated with Edema of the dorsum of feet?", "seeds": [ "Edema of the dorsum of feet" ], "gold_answer": "Pedal edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09593", "question": "What is associated with Lessel-Kreienkamp syndrome?", "seeds": [ "Lessel-Kreienkamp syndrome" ], "gold_answer": "Short attention span", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09594", "question": "What is associated with Metacarpal pseudoepiphysis?", "seeds": [ "Metacarpal pseudoepiphysis" ], "gold_answer": "Pseudoepiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09595", "question": "What is associated with Nephrotic syndrome, type 26?", "seeds": [ "Nephrotic syndrome, type 26" ], "gold_answer": "Glomerular sclerosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09596", "question": "What is associated with Sternocleidomastoid amyotrophy?", "seeds": [ "Sternocleidomastoid amyotrophy" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09597", "question": "What is associated with Radial deviation of finger?", "seeds": [ "Radial deviation of finger" ], "gold_answer": "Radial deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09598", "question": "What is associated with Uterine adenofibroma?", "seeds": [ "Uterine adenofibroma" ], "gold_answer": "Abnormal uterus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09599", "question": "What is associated with X-linked progressive cerebellar ataxia?", "seeds": [ "X-linked progressive cerebellar ataxia" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09600", "question": "What is associated with Secondary amenorrhea?", "seeds": [ "Secondary amenorrhea" ], "gold_answer": "Amenorrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09601", "question": "What is associated with Reduced circulating reticulated platelet count?", "seeds": [ "Reduced circulating reticulated platelet count" ], "gold_answer": "Abnormality of thrombocytes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09602", "question": "What is associated with Recessive mitochondrial ataxia syndrome?", "seeds": [ "Recessive mitochondrial ataxia syndrome" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09603", "question": "What is associated with Long face?", "seeds": [ "Long face" ], "gold_answer": "Large face", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09604", "question": "What is associated with Abnormal intervertebral disk morphology?", "seeds": [ "Abnormal intervertebral disk morphology" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09605", "question": "What is associated with Asymmetry of the nares?", "seeds": [ "Asymmetry of the nares" ], "gold_answer": "Abnormal nostril morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09606", "question": "What is associated with Elevated circulating tiglylcarnitine concentration?", "seeds": [ "Elevated circulating tiglylcarnitine concentration" ], "gold_answer": "Elevated circulating C5 acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09607", "question": "What is associated with Von Willebrand disease type 2A?", "seeds": [ "Von Willebrand disease type 2A" ], "gold_answer": "VWF", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09608", "question": "What is associated with Fetal neck mass?", "seeds": [ "Fetal neck mass" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09609", "question": "What is associated with Synostosis involving bones of the feet?", "seeds": [ "Synostosis involving bones of the feet" ], "gold_answer": "Synostosis involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09610", "question": "What is associated with Congenital brain dysgenesis due to glutamine synthetase deficiency?", "seeds": [ "Congenital brain dysgenesis due to glutamine synthetase deficiency" ], "gold_answer": "GLUL", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_09611", "question": "What is associated with Fingerpad telangiectases?", "seeds": [ "Fingerpad telangiectases" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09612", "question": "What is associated with Spina bifida occulta at S1?", "seeds": [ "Spina bifida occulta at S1" ], "gold_answer": "Spina bifida", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09613", "question": "What is associated with 1-5 toe syndactyly?", "seeds": [ "1-5 toe syndactyly" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09614", "question": "What is associated with Liberfarb syndrome?", "seeds": [ "Liberfarb syndrome" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09615", "question": "What is associated with Limited foot inversion?", "seeds": [ "Limited foot inversion" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09616", "question": "What is associated with PULMONARY ARTERIOVENOUS FISTULAS?", "seeds": [ "PULMONARY ARTERIOVENOUS FISTULAS" ], "gold_answer": "Abnormal fingertip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09617", "question": "What is associated with Xeroderma pigmentosum, group C?", "seeds": [ "Xeroderma pigmentosum, group C" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09618", "question": "What is associated with Autosomal recessive myogenic arthrogryposis multiplex congenita?", "seeds": [ "Autosomal recessive myogenic arthrogryposis multiplex congenita" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09619", "question": "What is associated with Epidermolytic hyperkeratosis 2?", "seeds": [ "Epidermolytic hyperkeratosis 2" ], "gold_answer": "Palmar hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09620", "question": "What is associated with Complete duplication of the proximal phalanx of the 3rd finger?", "seeds": [ "Complete duplication of the proximal phalanx of the 3rd finger" ], "gold_answer": "Complete duplication of the proximal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09621", "question": "What is associated with Embryonal renal neoplasm?", "seeds": [ "Embryonal renal neoplasm" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09622", "question": "What is associated with Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome?", "seeds": [ "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" ], "gold_answer": "Abnormal femoral neck morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09623", "question": "What is associated with Buphthalmos?", "seeds": [ "Buphthalmos" ], "gold_answer": "Developmental glaucoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09624", "question": "What phenotype is associated with Cardiomyopathy, dilated, 1M?", "seeds": [ "Cardiomyopathy, dilated, 1M" ], "gold_answer": "Impaired myocardial contractility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09625", "question": "What is associated with Adult-onset night blindness?", "seeds": [ "Adult-onset night blindness" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09626", "question": "What is associated with Familial steroid-resistant nephrotic syndrome with sensorineural deafness?", "seeds": [ "Familial steroid-resistant nephrotic syndrome with sensorineural deafness" ], "gold_answer": "COQ6", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09627", "question": "What is associated with Hypergonadotropic hypogonadism?", "seeds": [ "Hypergonadotropic hypogonadism" ], "gold_answer": "Hypogonadism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09628", "question": "What is associated with Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6?", "seeds": [ "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6" ], "gold_answer": "Erosion of oral mucosa", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09629", "question": "What is associated with Increased CSF lactate?", "seeds": [ "Increased CSF lactate" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09630", "question": "What is associated with Anemia due to reduced life span of red cells?", "seeds": [ "Anemia due to reduced life span of red cells" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09631", "question": "What is associated with Abnormal large intestinal mucosa morphology?", "seeds": [ "Abnormal large intestinal mucosa morphology" ], "gold_answer": "Abnormal large intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09632", "question": "What is associated with Anti-microfilaria antibody positivity?", "seeds": [ "Anti-microfilaria antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09633", "question": "What is associated with Chromhidrosis?", "seeds": [ "Chromhidrosis" ], "gold_answer": "Abnormal sweat gland morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09634", "question": "What is associated with Abnormal thorax morphology?", "seeds": [ "Abnormal thorax morphology" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09635", "question": "What is associated with Recurrent otitis media?", "seeds": [ "Recurrent otitis media" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09636", "question": "What is associated with Macule?", "seeds": [ "Macule" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09637", "question": "What is associated with Pear-shaped nose?", "seeds": [ "Pear-shaped nose" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09638", "question": "What phenotype is associated with Hypoparathyroidism, X-linked?", "seeds": [ "Hypoparathyroidism, X-linked" ], "gold_answer": "Congenital hypoparathyroidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09639", "question": "What is associated with Bone marrow failure syndrome 5?", "seeds": [ "Bone marrow failure syndrome 5" ], "gold_answer": "Abnormal chromosome morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09640", "question": "What is associated with Autosomal recessive methemoglobinemia?", "seeds": [ "Autosomal recessive methemoglobinemia" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09641", "question": "What phenotype is associated with Bamforth-Lazarus syndrome?", "seeds": [ "Bamforth-Lazarus syndrome" ], "gold_answer": "Bilateral choanal atresia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09642", "question": "What is associated with Aplasia of the 5th finger?", "seeds": [ "Aplasia of the 5th finger" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09643", "question": "What is associated with Hypotrophy of the small hand muscles?", "seeds": [ "Hypotrophy of the small hand muscles" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09644", "question": "What is associated with Salmonella osteomyelitis?", "seeds": [ "Salmonella osteomyelitis" ], "gold_answer": "Osteomyelitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09645", "question": "What is associated with Growth hormone deficiency, isolated partial?", "seeds": [ "Growth hormone deficiency, isolated partial" ], "gold_answer": "Anterior hypopituitarism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09646", "question": "What is associated with Aplasia/Hypoplasia of the colon?", "seeds": [ "Aplasia/Hypoplasia of the colon" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09647", "question": "What is associated with Anti-thyroid-stimulating hormone receptor antibody positivity?", "seeds": [ "Anti-thyroid-stimulating hormone receptor antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09648", "question": "What is associated with Increased circulating interleukin 21 concentration?", "seeds": [ "Increased circulating interleukin 21 concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09649", "question": "What is associated with Episodic muscle weakness, X-linked?", "seeds": [ "Episodic muscle weakness, X-linked" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09650", "question": "What is associated with Choroidal melanoma?", "seeds": [ "Choroidal melanoma" ], "gold_answer": "Abnormal ciliary body morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09651", "question": "What phenotype is associated with MALT lymphoma?", "seeds": [ "MALT lymphoma" ], "gold_answer": "Nausea and vomiting", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09652", "question": "What is associated with Parkinson disease 7, autosomal recessive early-onset?", "seeds": [ "Parkinson disease 7, autosomal recessive early-onset" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09653", "question": "What is associated with Brachymorphism-onychodysplasia-dysphalangism syndrome?", "seeds": [ "Brachymorphism-onychodysplasia-dysphalangism syndrome" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09654", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 29?", "seeds": [ "Intellectual developmental disorder, X-linked 29" ], "gold_answer": "Periorbital fullness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09655", "question": "What is associated with Leber congenital amaurosis 14?", "seeds": [ "Leber congenital amaurosis 14" ], "gold_answer": "Abnormal electroretinogram", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09656", "question": "What is associated with Intellectual developmental disorder, X-linked 99, syndromic, female-restricted?", "seeds": [ "Intellectual developmental disorder, X-linked 99, syndromic, female-restricted" ], "gold_answer": "Cleft soft palate", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09657", "question": "What is associated with Mandibulofacial dysostosis-microcephaly syndrome?", "seeds": [ "Mandibulofacial dysostosis-microcephaly syndrome" ], "gold_answer": "Abnormal maxilla morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09658", "question": "What is associated with Abnormal muscle fiber alpha sarcoglycan?", "seeds": [ "Abnormal muscle fiber alpha sarcoglycan" ], "gold_answer": "Abnormal muscle fiber protein expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09659", "question": "What is associated with Aplasia of the eccrine sweat glands?", "seeds": [ "Aplasia of the eccrine sweat glands" ], "gold_answer": "Aplasia/Hypoplasia of the sweat glands", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09660", "question": "What is associated with Clinodactyly of the thumb?", "seeds": [ "Clinodactyly of the thumb" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09661", "question": "What phenotype is associated with Deafness, autosomal dominant 25?", "seeds": [ "Deafness, autosomal dominant 25" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09662", "question": "What is associated with Renal arteriolar lumen cholesterol emboli?", "seeds": [ "Renal arteriolar lumen cholesterol emboli" ], "gold_answer": "Abnormal renal arteriole lumen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09663", "question": "What is associated with Nevus flammeus of nape of neck?", "seeds": [ "Nevus flammeus of nape of neck" ], "gold_answer": "Nevus flammeus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09664", "question": "What is associated with Gallbladder dysfunction?", "seeds": [ "Gallbladder dysfunction" ], "gold_answer": "Abnormal gallbladder physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09665", "question": "What is associated with Anxiety?", "seeds": [ "Anxiety" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09666", "question": "What is associated with Focal impaired awareness emotional seizure?", "seeds": [ "Focal impaired awareness emotional seizure" ], "gold_answer": "Focal impaired awareness seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09667", "question": "What is associated with Rhinitis?", "seeds": [ "Rhinitis" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09668", "question": "What is associated with Decreased transferrin saturation?", "seeds": [ "Decreased transferrin saturation" ], "gold_answer": "Abnormal blood transition element cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09669", "question": "What is associated with Abnormal plasma cell count?", "seeds": [ "Abnormal plasma cell count" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09670", "question": "What is associated with Flattened epiphysis?", "seeds": [ "Flattened epiphysis" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09671", "question": "What is associated with Facial wrinkling?", "seeds": [ "Facial wrinkling" ], "gold_answer": "Premature skin wrinkling", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09672", "question": "What is associated with Congenital hypertrophy of left ventricle?", "seeds": [ "Congenital hypertrophy of left ventricle" ], "gold_answer": "Left ventricular hypertrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09673", "question": "What is associated with Mesangial matrix expansion?", "seeds": [ "Mesangial matrix expansion" ], "gold_answer": "Abnormal glomerular mesangium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09674", "question": "What is associated with Cutaneous mastocytosis-deafness-microtia syndrome?", "seeds": [ "Cutaneous mastocytosis-deafness-microtia syndrome" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09675", "question": "What is associated with Elevated circulating carcinoma antigen 125 concentration?", "seeds": [ "Elevated circulating carcinoma antigen 125 concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09676", "question": "What is associated with Paracentral scotoma?", "seeds": [ "Paracentral scotoma" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09677", "question": "What is associated with Nodular-perilymphatic pattern on pulmonary HRCT?", "seeds": [ "Nodular-perilymphatic pattern on pulmonary HRCT" ], "gold_answer": "Pulmonary interstitial high-resolution computed tomography abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09678", "question": "What is associated with Ehlers-Danlos syndrome, classic-like, 2?", "seeds": [ "Ehlers-Danlos syndrome, classic-like, 2" ], "gold_answer": "Aplasia/Hypoplasia of the eyebrow", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09679", "question": "What phenotype is associated with Dystonia 28, childhood-onset?", "seeds": [ "Dystonia 28, childhood-onset" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09680", "question": "What is associated with Increased size of the mandible?", "seeds": [ "Increased size of the mandible" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09681", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 1?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 1" ], "gold_answer": "Abnormal hepatobiliary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09682", "question": "What is associated with Macrocephaly-developmental delay syndrome?", "seeds": [ "Macrocephaly-developmental delay syndrome" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09683", "question": "What is associated with Intellectual disability syndrome due to a DYRK1A point mutation?", "seeds": [ "Intellectual disability syndrome due to a DYRK1A point mutation" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09684", "question": "What is associated with Peroneal nerve, accessory deep?", "seeds": [ "Peroneal nerve, accessory deep" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09685", "question": "What is associated with Primary condylar hyperplasia?", "seeds": [ "Primary condylar hyperplasia" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09686", "question": "What is associated with Hypoargininemia?", "seeds": [ "Hypoargininemia" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09687", "question": "What is associated with Increased circulating interleukin 13 concentration?", "seeds": [ "Increased circulating interleukin 13 concentration" ], "gold_answer": "Abnormal circulating interleukin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09688", "question": "What is associated with History of recent contralateral injury?", "seeds": [ "History of recent contralateral injury" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09689", "question": "What is associated with Abnormal ureter physiology?", "seeds": [ "Abnormal ureter physiology" ], "gold_answer": "Abnormality of the ureter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09690", "question": "What phenotype is associated with Porphyria, congenital erythropoietic?", "seeds": [ "Porphyria, congenital erythropoietic" ], "gold_answer": "Hypertrichosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09691", "question": "What is associated with Abnormal coagulation factor V activity?", "seeds": [ "Abnormal coagulation factor V activity" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09692", "question": "What is associated with Complete duplication of the phalanges of the 2nd finger?", "seeds": [ "Complete duplication of the phalanges of the 2nd finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09693", "question": "What is associated with Papillomatosis, familial cutaneous?", "seeds": [ "Papillomatosis, familial cutaneous" ], "gold_answer": "Epidermal thickening", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09694", "question": "What is associated with Pneumocystosis?", "seeds": [ "Pneumocystosis" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09695", "question": "What is associated with Focal impaired awareness emotional seizure with crying?", "seeds": [ "Focal impaired awareness emotional seizure with crying" ], "gold_answer": "Focal impaired awareness emotional seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09696", "question": "What is associated with Abnormal middle ear reflexes?", "seeds": [ "Abnormal middle ear reflexes" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09697", "question": "What is associated with Angelman syndrome due to maternal 15q11q13 deletion?", "seeds": [ "Angelman syndrome due to maternal 15q11q13 deletion" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09698", "question": "What phenotype is associated with Mucopolysaccharidosis type IX?", "seeds": [ "Mucopolysaccharidosis type IX" ], "gold_answer": "Ankle pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09699", "question": "What is associated with Hyperpigmented nevi and streak?", "seeds": [ "Hyperpigmented nevi and streak" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09700", "question": "What is associated with Anomalous origin of right coronary artery from the pulmonary artery?", "seeds": [ "Anomalous origin of right coronary artery from the pulmonary artery" ], "gold_answer": "Abnormal coronary artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09701", "question": "What phenotype is associated with Myasthenic syndrome, congenital, with tubular aggregates 1?", "seeds": [ "Myasthenic syndrome, congenital, with tubular aggregates 1" ], "gold_answer": "Ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09702", "question": "What is associated with Retinal dystrophy with or without macular staphyloma?", "seeds": [ "Retinal dystrophy with or without macular staphyloma" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09703", "question": "What is associated with Abnormal circulating pyrimidine concentration?", "seeds": [ "Abnormal circulating pyrimidine concentration" ], "gold_answer": "Abnormal circulating nucleobase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09704", "question": "What is associated with Abnormal labia minora morphology?", "seeds": [ "Abnormal labia minora morphology" ], "gold_answer": "Abnormal labia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09705", "question": "What is associated with Hemangiomatosis?", "seeds": [ "Hemangiomatosis" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09706", "question": "What phenotype is associated with Transient erythroblastopenia of childhood?", "seeds": [ "Transient erythroblastopenia of childhood" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09707", "question": "What is associated with Acephalic spermatozoa?", "seeds": [ "Acephalic spermatozoa" ], "gold_answer": "Abnormal sperm head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09708", "question": "What is associated with Renal interstitial IgG4+ plasma cell infiltration?", "seeds": [ "Renal interstitial IgG4+ plasma cell infiltration" ], "gold_answer": "Abnormal renal interstitial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09709", "question": "What is associated with Colobomatous microphthalmia-rhizomelic dysplasia syndrome?", "seeds": [ "Colobomatous microphthalmia-rhizomelic dysplasia syndrome" ], "gold_answer": "MAB21L2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09710", "question": "What is associated with Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness?", "seeds": [ "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09711", "question": "What is associated with Anterior cutaneous nerve entrapment syndrome?", "seeds": [ "Anterior cutaneous nerve entrapment syndrome" ], "gold_answer": "Hernia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09712", "question": "What is associated with Mitochondrial phosphate carrier deficiency?", "seeds": [ "Mitochondrial phosphate carrier deficiency" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09713", "question": "What is associated with Aspiration?", "seeds": [ "Aspiration" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09714", "question": "What is associated with Aphasia?", "seeds": [ "Aphasia" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09715", "question": "What is associated with Calvarial doughnut lesions with bone fragility?", "seeds": [ "Calvarial doughnut lesions with bone fragility" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09716", "question": "What is associated with Irregular epiphyses of the 3rd finger?", "seeds": [ "Irregular epiphyses of the 3rd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09717", "question": "What is associated with Meige disease?", "seeds": [ "Meige disease" ], "gold_answer": "Abnormal pleura morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09718", "question": "What is associated with Conus terminalis arteriovenous malformation?", "seeds": [ "Conus terminalis arteriovenous malformation" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09719", "question": "What is associated with Hyperapobetalipoproteinemia?", "seeds": [ "Hyperapobetalipoproteinemia" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09720", "question": "What is associated with Early balding?", "seeds": [ "Early balding" ], "gold_answer": "Acquired abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09721", "question": "What is associated with Spermatogenic failure, Y-linked, 2?", "seeds": [ "Spermatogenic failure, Y-linked, 2" ], "gold_answer": "Abnormal spermatogenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09722", "question": "What is associated with Abnormal foveal pit on macular OCT?", "seeds": [ "Abnormal foveal pit on macular OCT" ], "gold_answer": "Abnormal optical coherence tomography", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09723", "question": "What is associated with Dairy allergy?", "seeds": [ "Dairy allergy" ], "gold_answer": "Allergy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09724", "question": "What phenotype is associated with Immunodeficiency 102?", "seeds": [ "Immunodeficiency 102" ], "gold_answer": "Chronic rhinitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09725", "question": "What is associated with White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome?", "seeds": [ "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09726", "question": "What is associated with Narrow greater sciatic notch?", "seeds": [ "Narrow greater sciatic notch" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09727", "question": "What is associated with Abnormal vaginal physiology?", "seeds": [ "Abnormal vaginal physiology" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09728", "question": "What is associated with Osteolysis involving bones of the lower limbs?", "seeds": [ "Osteolysis involving bones of the lower limbs" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09729", "question": "What is associated with Decreased cardiac index?", "seeds": [ "Decreased cardiac index" ], "gold_answer": "Abnormal cardiac output", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09730", "question": "What is associated with Tendons, extensor, of fingers, anomalous insertion of?", "seeds": [ "Tendons, extensor, of fingers, anomalous insertion of" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09731", "question": "What is associated with Naevus flammeus of the eyelid?", "seeds": [ "Naevus flammeus of the eyelid" ], "gold_answer": "Nevus flammeus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09732", "question": "What is associated with Areas of hypopigmentation and hyperpigmentation that follow Blaschko lines?", "seeds": [ "Areas of hypopigmentation and hyperpigmentation that follow Blaschko lines" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09733", "question": "What is associated with Pericardial effusion?", "seeds": [ "Pericardial effusion" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09734", "question": "What is associated with Spondylometaphyseal dysplasia, axial?", "seeds": [ "Spondylometaphyseal dysplasia, axial" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09735", "question": "What is associated with Acrofacial dysostosis 1, Nager type?", "seeds": [ "Acrofacial dysostosis 1, Nager type" ], "gold_answer": "Abnormal nasal bridge morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09736", "question": "What is associated with Wrist instability?", "seeds": [ "Wrist instability" ], "gold_answer": "Abnormal wrist physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09737", "question": "What is associated with Glenoid fracture?", "seeds": [ "Glenoid fracture" ], "gold_answer": "Fractured shoulder bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09738", "question": "What is associated with Decreased forced expiratory flow 25-75%?", "seeds": [ "Decreased forced expiratory flow 25-75%" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09739", "question": "What is associated with Masseter muscular weakness?", "seeds": [ "Masseter muscular weakness" ], "gold_answer": "Abnormal oral physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09740", "question": "What is associated with Nasal chondritis?", "seeds": [ "Nasal chondritis" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09741", "question": "What is associated with Tubular accumulation of uromodulin?", "seeds": [ "Tubular accumulation of uromodulin" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09742", "question": "What phenotype is associated with Myopathy with extrapyramidal signs?", "seeds": [ "Myopathy with extrapyramidal signs" ], "gold_answer": "Gastroesophageal reflux", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09743", "question": "What phenotype is associated with Greenberg dysplasia?", "seeds": [ "Greenberg dysplasia" ], "gold_answer": "Micromelia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09744", "question": "What is associated with Seizures, scoliosis, and macrocephaly/microcephaly syndrome?", "seeds": [ "Seizures, scoliosis, and macrocephaly/microcephaly syndrome" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09745", "question": "What is associated with Bicornuate uterus?", "seeds": [ "Bicornuate uterus" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09746", "question": "What is associated with Elevated CSF myelin basic protein concentration?", "seeds": [ "Elevated CSF myelin basic protein concentration" ], "gold_answer": "Abnormal CSF protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09747", "question": "What is associated with Palatopharyngeal incompetence?", "seeds": [ "Palatopharyngeal incompetence" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09748", "question": "What is associated with Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT?", "seeds": [ "Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT" ], "gold_answer": "Pulmonary interstitial high-resolution computed tomography abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09749", "question": "What is associated with Juvenile absence epilepsy?", "seeds": [ "Juvenile absence epilepsy" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09750", "question": "What is associated with Inappropriate antidiuretic hormone secretion?", "seeds": [ "Inappropriate antidiuretic hormone secretion" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09751", "question": "What is associated with Non-insulinoma pancreatogenous hypoglycemia syndrome?", "seeds": [ "Non-insulinoma pancreatogenous hypoglycemia syndrome" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09752", "question": "What phenotype is associated with Systemic capillary leak syndrome?", "seeds": [ "Systemic capillary leak syndrome" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09753", "question": "What is associated with Pituitary blastoma?", "seeds": [ "Pituitary blastoma" ], "gold_answer": "Neoplasm of the pituitary gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09754", "question": "What is associated with Hypoplasia of serratus anterior muscle?", "seeds": [ "Hypoplasia of serratus anterior muscle" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09755", "question": "What is associated with Partial-complete absence of 5th phalanges?", "seeds": [ "Partial-complete absence of 5th phalanges" ], "gold_answer": "Abnormal 5th finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09756", "question": "What is associated with Cone-Rod dystrophy 16?", "seeds": [ "Cone-Rod dystrophy 16" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09757", "question": "What phenotype is associated with Hypothyroidism, congenital, nongoitrous, 4?", "seeds": [ "Hypothyroidism, congenital, nongoitrous, 4" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09758", "question": "What phenotype is associated with X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome?", "seeds": [ "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" ], "gold_answer": "Protruding ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09759", "question": "What is associated with Ascending aortic dissection?", "seeds": [ "Ascending aortic dissection" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09760", "question": "What is associated with Paroxysmal atrial tachycardia?", "seeds": [ "Paroxysmal atrial tachycardia" ], "gold_answer": "Supraventricular tachycardia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09761", "question": "What is associated with Generalized neonatal hypotonia?", "seeds": [ "Generalized neonatal hypotonia" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09762", "question": "What is associated with Bile duct proliferation?", "seeds": [ "Bile duct proliferation" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09763", "question": "What phenotype is associated with Oculocerebral syndrome with hypopigmentation?", "seeds": [ "Oculocerebral syndrome with hypopigmentation" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09764", "question": "What is associated with Axial dystonia?", "seeds": [ "Axial dystonia" ], "gold_answer": "Dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09765", "question": "What is associated with Arcuate scotoma?", "seeds": [ "Arcuate scotoma" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09766", "question": "What is associated with Aspirin-induced asthma?", "seeds": [ "Aspirin-induced asthma" ], "gold_answer": "Asthma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09767", "question": "What is associated with Thrombocytopenic purpura, autoimmune?", "seeds": [ "Thrombocytopenic purpura, autoimmune" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09768", "question": "What is associated with Hypoammonemia?", "seeds": [ "Hypoammonemia" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09769", "question": "What phenotype is associated with Alopecia-intellectual disability syndrome 1?", "seeds": [ "Alopecia-intellectual disability syndrome 1" ], "gold_answer": "Alopecia universalis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09770", "question": "What is associated with Vaginal mass?", "seeds": [ "Vaginal mass" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09771", "question": "What is associated with Recurrent Burkholderia cepacia infections?", "seeds": [ "Recurrent Burkholderia cepacia infections" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09772", "question": "What is associated with Increased tear production?", "seeds": [ "Increased tear production" ], "gold_answer": "Epiphora", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09773", "question": "What is associated with Abnormal renal interstitial morphology?", "seeds": [ "Abnormal renal interstitial morphology" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09774", "question": "What is associated with Interosseus muscle atrophy?", "seeds": [ "Interosseus muscle atrophy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09775", "question": "What is associated with Nasal secretion eosinophilia?", "seeds": [ "Nasal secretion eosinophilia" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09776", "question": "What is associated with Acromelic frontonasal dysplasia?", "seeds": [ "Acromelic frontonasal dysplasia" ], "gold_answer": "Talipes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09777", "question": "What is associated with Reduced insulin-like factor 3 level?", "seeds": [ "Reduced insulin-like factor 3 level" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09778", "question": "What is associated with Photoreceptor outer segment loss on macular OCT?", "seeds": [ "Photoreceptor outer segment loss on macular OCT" ], "gold_answer": "Abnormal posterior segment imaging", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09779", "question": "What phenotype is associated with Ceroid lipofuscinosis, neuronal, 10?", "seeds": [ "Ceroid lipofuscinosis, neuronal, 10" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09780", "question": "What is associated with Elevated urinary N-butyrylglycine?", "seeds": [ "Elevated urinary N-butyrylglycine" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09781", "question": "What is associated with Focal cortical dysplasia type Ib?", "seeds": [ "Focal cortical dysplasia type Ib" ], "gold_answer": "Focal cortical dysplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09782", "question": "What is associated with Nail pits?", "seeds": [ "Nail pits" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09783", "question": "What is associated with Dysregulated negative emotional state?", "seeds": [ "Dysregulated negative emotional state" ], "gold_answer": "Abnormal emotional state", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09784", "question": "What is associated with Cortical radial artery medial/intimal arteriitis?", "seeds": [ "Cortical radial artery medial/intimal arteriitis" ], "gold_answer": "Abnormal cortical radial artery intima/media morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09785", "question": "What phenotype is associated with Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency?", "seeds": [ "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" ], "gold_answer": "Encephalopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09786", "question": "What phenotype is associated with Beta-ureidopropionase deficiency?", "seeds": [ "Beta-ureidopropionase deficiency" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09787", "question": "What is associated with Congenital Horner syndrome?", "seeds": [ "Congenital Horner syndrome" ], "gold_answer": "Horner syndrome", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09788", "question": "What phenotype is associated with Cortical blindness-intellectual disability-polydactyly syndrome?", "seeds": [ "Cortical blindness-intellectual disability-polydactyly syndrome" ], "gold_answer": "Long philtrum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09789", "question": "What is associated with Abnormal lung morphology?", "seeds": [ "Abnormal lung morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09790", "question": "What is associated with Cervical clear cell adenocarcinoma?", "seeds": [ "Cervical clear cell adenocarcinoma" ], "gold_answer": "Abnormal vagina morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09791", "question": "What is associated with Renal arteriolar lumen cholesterol emboli?", "seeds": [ "Renal arteriolar lumen cholesterol emboli" ], "gold_answer": "Abnormal renal arteriole lumen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09792", "question": "What is associated with Elevated urine guanidinoacetic acid level?", "seeds": [ "Elevated urine guanidinoacetic acid level" ], "gold_answer": "Increased urine proteinogenic amino acid derivative level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09793", "question": "What is associated with Prolonged G2 phase of cell cycle?", "seeds": [ "Prolonged G2 phase of cell cycle" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09794", "question": "What is associated with Ritscher-Schinzel syndrome 2?", "seeds": [ "Ritscher-Schinzel syndrome 2" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09795", "question": "What is associated with Synostosis involving the 1st metacarpal?", "seeds": [ "Synostosis involving the 1st metacarpal" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09796", "question": "What is associated with Achondrogenesis?", "seeds": [ "Achondrogenesis" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09797", "question": "What is associated with Unaided visual acuity 0.5 LogMAR?", "seeds": [ "Unaided visual acuity 0.5 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09798", "question": "What phenotype is associated with Multiple synostoses syndrome 4?", "seeds": [ "Multiple synostoses syndrome 4" ], "gold_answer": "Broad foot", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09799", "question": "What is associated with Premature adrenarche?", "seeds": [ "Premature adrenarche" ], "gold_answer": "Early onset of sexual maturation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09800", "question": "What phenotype is associated with Urachal sinus?", "seeds": [ "Urachal sinus" ], "gold_answer": "Abdominal pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09801", "question": "What phenotype is associated with Deafness, autosomal dominant 83?", "seeds": [ "Deafness, autosomal dominant 83" ], "gold_answer": "Bilateral sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09802", "question": "What is associated with Immunodeficiency 72 with autoinflammation?", "seeds": [ "Immunodeficiency 72 with autoinflammation" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09803", "question": "What is associated with Paroxysmal nonkinesigenic dyskinesia 1?", "seeds": [ "Paroxysmal nonkinesigenic dyskinesia 1" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09804", "question": "What is associated with X-linked reticulate pigmentary disorder?", "seeds": [ "X-linked reticulate pigmentary disorder" ], "gold_answer": "POLA1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_09805", "question": "What is associated with Paraplegia-intellectual disability-hyperkeratosis syndrome?", "seeds": [ "Paraplegia-intellectual disability-hyperkeratosis syndrome" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09806", "question": "What is associated with Sclerotic foci of humeral diaphysis?", "seeds": [ "Sclerotic foci of humeral diaphysis" ], "gold_answer": "Abnormal humeral diaphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09807", "question": "What is associated with Upper-limb joint contracture?", "seeds": [ "Upper-limb joint contracture" ], "gold_answer": "Joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09808", "question": "What is associated with Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity?", "seeds": [ "Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09809", "question": "What phenotype is associated with Unstable beta globin chain variant disease?", "seeds": [ "Unstable beta globin chain variant disease" ], "gold_answer": "Arthralgia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09810", "question": "What is associated with Anti-GFAP antibody?", "seeds": [ "Anti-GFAP antibody" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09811", "question": "What is associated with Bent long bone?", "seeds": [ "Bent long bone" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09812", "question": "What is associated with Asymmetry of the mandible?", "seeds": [ "Asymmetry of the mandible" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09813", "question": "What is associated with Calcified placenta?", "seeds": [ "Calcified placenta" ], "gold_answer": "Abnormal placenta morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09814", "question": "What phenotype is associated with Brachydactyly-syndactyly, Zhao type?", "seeds": [ "Brachydactyly-syndactyly, Zhao type" ], "gold_answer": "Symphalangism affecting the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09815", "question": "What phenotype is associated with Cardiac valvular dysplasia 2?", "seeds": [ "Cardiac valvular dysplasia 2" ], "gold_answer": "Pulmonic stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09816", "question": "What is associated with Hypovolemia?", "seeds": [ "Hypovolemia" ], "gold_answer": "Abnormality of blood volume homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09817", "question": "What is associated with Notched primary central incisor?", "seeds": [ "Notched primary central incisor" ], "gold_answer": "Abnormality of the incisor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09818", "question": "What is associated with McDonough syndrome?", "seeds": [ "McDonough syndrome" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09819", "question": "What is associated with Cerebral palsy, ataxic, autosomal recessive?", "seeds": [ "Cerebral palsy, ataxic, autosomal recessive" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09820", "question": "What is associated with Anti-neuromuscular Junction acetylcholine receptor antibody positivity?", "seeds": [ "Anti-neuromuscular Junction acetylcholine receptor antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09821", "question": "What is associated with Neutrophilic dermatosis, acute febrile?", "seeds": [ "Neutrophilic dermatosis, acute febrile" ], "gold_answer": "Abnormal circulating C-reactive protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09822", "question": "What is associated with Mitochondrial DNA depletion syndrome 20 (MNGIE type)?", "seeds": [ "Mitochondrial DNA depletion syndrome 20 (MNGIE type)" ], "gold_answer": "Abnormal esophagus physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09823", "question": "What phenotype is associated with Epidermolytic hyperkeratosis 2?", "seeds": [ "Epidermolytic hyperkeratosis 2" ], "gold_answer": "Congenital nonbullous ichthyosiform erythroderma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09824", "question": "What is associated with Sudden infant death-dysgenesis of the testes syndrome?", "seeds": [ "Sudden infant death-dysgenesis of the testes syndrome" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09825", "question": "What is associated with Increased urinary sulfite level?", "seeds": [ "Increased urinary sulfite level" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09826", "question": "What is associated with Combined immunodeficiency due to RELB deficiency?", "seeds": [ "Combined immunodeficiency due to RELB deficiency" ], "gold_answer": "RELB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_09827", "question": "What is associated with Facial diplegia?", "seeds": [ "Facial diplegia" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09828", "question": "What is associated with Ceroid lipofuscinosis, neuronal, 10?", "seeds": [ "Ceroid lipofuscinosis, neuronal, 10" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09829", "question": "What is associated with Substantia nigra dopaminergic neuron loss?", "seeds": [ "Substantia nigra dopaminergic neuron loss" ], "gold_answer": "Abnormal substantia nigra morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09830", "question": "What is associated with Partial duplication of the distal phalanx of the 3rd finger?", "seeds": [ "Partial duplication of the distal phalanx of the 3rd finger" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09831", "question": "What is associated with Reduced peroxisomal glutaryl-CoA oxidase activity?", "seeds": [ "Reduced peroxisomal glutaryl-CoA oxidase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09832", "question": "What is associated with Tubular aggregate myopathy?", "seeds": [ "Tubular aggregate myopathy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09833", "question": "What is associated with Poikiloderma, hereditary sclerosing?", "seeds": [ "Poikiloderma, hereditary sclerosing" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09834", "question": "What is associated with Cerebellar ataxia associated with quadrupedal gait?", "seeds": [ "Cerebellar ataxia associated with quadrupedal gait" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09835", "question": "What phenotype is associated with Sporadic fetal brain disruption sequence?", "seeds": [ "Sporadic fetal brain disruption sequence" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09836", "question": "What phenotype is associated with Immunodeficiency 47?", "seeds": [ "Immunodeficiency 47" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09837", "question": "What is associated with Thyroid crisis?", "seeds": [ "Thyroid crisis" ], "gold_answer": "Hyperthyroidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09838", "question": "What is associated with Abnormal erythrocyte enzyme concentration or activity?", "seeds": [ "Abnormal erythrocyte enzyme concentration or activity" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09839", "question": "What is associated with Renal tubular herpes simplex virus inclusions?", "seeds": [ "Renal tubular herpes simplex virus inclusions" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09840", "question": "What phenotype is associated with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5?", "seeds": [ "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" ], "gold_answer": "Dysphonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09841", "question": "What is associated with Fractured patella?", "seeds": [ "Fractured patella" ], "gold_answer": "Fractured hindlimb bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09842", "question": "What is associated with Absent muscle fiber merosin?", "seeds": [ "Absent muscle fiber merosin" ], "gold_answer": "Abnormal muscle fiber merosin expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09843", "question": "What is associated with Giant cell granuloma of mandible?", "seeds": [ "Giant cell granuloma of mandible" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09844", "question": "What is associated with Complete duplication of the middle phalanx of the 2nd finger?", "seeds": [ "Complete duplication of the middle phalanx of the 2nd finger" ], "gold_answer": "Complete duplication of the phalanges of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09845", "question": "What phenotype is associated with Immunodeficiency 89 and autoimmunity?", "seeds": [ "Immunodeficiency 89 and autoimmunity" ], "gold_answer": "Reduced circulating interleukin 10 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09846", "question": "What is associated with Recurrent meningitis?", "seeds": [ "Recurrent meningitis" ], "gold_answer": "Unusual CNS infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09847", "question": "What is associated with Hengel-Maroofian-Schols syndrome?", "seeds": [ "Hengel-Maroofian-Schols syndrome" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09848", "question": "What phenotype is associated with Congenital disorder of glycosylation, type Ij?", "seeds": [ "Congenital disorder of glycosylation, type Ij" ], "gold_answer": "Reduced antithrombin III activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09849", "question": "What is associated with Therapeutic abortion?", "seeds": [ "Therapeutic abortion" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09850", "question": "What is associated with Skin-picking?", "seeds": [ "Skin-picking" ], "gold_answer": "Self-injurious behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09851", "question": "What phenotype is associated with Pterygium colli-intellectual disability-digital anomalies syndrome?", "seeds": [ "Pterygium colli-intellectual disability-digital anomalies syndrome" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09852", "question": "What is associated with Epidermodysplasia verruciformis, susceptibility to, 5?", "seeds": [ "Epidermodysplasia verruciformis, susceptibility to, 5" ], "gold_answer": "Abnormal leukocyte count", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09853", "question": "What is associated with Mobitz II atrioventricular block?", "seeds": [ "Mobitz II atrioventricular block" ], "gold_answer": "Abnormal atrioventricular conduction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09854", "question": "What is associated with Abnormal 5th finger phalanx morphology?", "seeds": [ "Abnormal 5th finger phalanx morphology" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09855", "question": "What is associated with Frontal polymicrogyria?", "seeds": [ "Frontal polymicrogyria" ], "gold_answer": "Abnormal cortical gyration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09856", "question": "What is associated with Sensory exotropia?", "seeds": [ "Sensory exotropia" ], "gold_answer": "Exotropia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09857", "question": "What is associated with Female sexual dysfunction?", "seeds": [ "Female sexual dysfunction" ], "gold_answer": "Abnormal female reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09858", "question": "What is associated with Slanting of the palpebral fissure?", "seeds": [ "Slanting of the palpebral fissure" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09859", "question": "What is associated with Short REM sleep?", "seeds": [ "Short REM sleep" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09860", "question": "What is associated with Osteolytic defects of the phalanges of the 4th toe?", "seeds": [ "Osteolytic defects of the phalanges of the 4th toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09861", "question": "What is associated with Abnormal enteric neuron morphology?", "seeds": [ "Abnormal enteric neuron morphology" ], "gold_answer": "Abnormal enteric nervous system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09862", "question": "What phenotype is associated with Hydatidiform mole, recurrent, 3?", "seeds": [ "Hydatidiform mole, recurrent, 3" ], "gold_answer": "Hydatidiform mole", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09863", "question": "What is associated with Small intestinal adenoma?", "seeds": [ "Small intestinal adenoma" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09864", "question": "What is associated with Actinomyopathy-associated syndromic thrombocytopenia?", "seeds": [ "Actinomyopathy-associated syndromic thrombocytopenia" ], "gold_answer": "ACTB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09865", "question": "What is associated with Elevated circulating calprotectin concentration?", "seeds": [ "Elevated circulating calprotectin concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09866", "question": "What phenotype is associated with Peroxisomal fatty acyl-CoA reductase 1 disorder?", "seeds": [ "Peroxisomal fatty acyl-CoA reductase 1 disorder" ], "gold_answer": "Cerebral atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09867", "question": "What is associated with Abnormal renal tubular epithelial morphology?", "seeds": [ "Abnormal renal tubular epithelial morphology" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09868", "question": "What is associated with Abnormal right ventricle morphology?", "seeds": [ "Abnormal right ventricle morphology" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09869", "question": "What is associated with Enlarged epiphysis of the middle phalanx of the 4th toe?", "seeds": [ "Enlarged epiphysis of the middle phalanx of the 4th toe" ], "gold_answer": "Enlarged epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09870", "question": "What is associated with Late-onset retinal degeneration?", "seeds": [ "Late-onset retinal degeneration" ], "gold_answer": "C1QTNF5", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09871", "question": "What is associated with Rouleaux formation?", "seeds": [ "Rouleaux formation" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09872", "question": "What is associated with Bullet-shaped proximal phalanx of the 4th finger?", "seeds": [ "Bullet-shaped proximal phalanx of the 4th finger" ], "gold_answer": "Abnormal 4th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09873", "question": "What is associated with Aminoacylase 1 deficiency?", "seeds": [ "Aminoacylase 1 deficiency" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09874", "question": "What is associated with Pelizaeus-Merzbacher disease in female carriers?", "seeds": [ "Pelizaeus-Merzbacher disease in female carriers" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09875", "question": "What is associated with Onychogryphosis of toenails?", "seeds": [ "Onychogryphosis of toenails" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09876", "question": "What phenotype is associated with Epilepsy, familial adult myoclonic, 1?", "seeds": [ "Epilepsy, familial adult myoclonic, 1" ], "gold_answer": "Jerk-locked premyoclonus spikes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09877", "question": "What is associated with Chronic acidosis?", "seeds": [ "Chronic acidosis" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09878", "question": "What is associated with Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality?", "seeds": [ "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09879", "question": "What is associated with Elevated circulating deoxypyridinoline concentration?", "seeds": [ "Elevated circulating deoxypyridinoline concentration" ], "gold_answer": "Abnormal circulating collagen degradation product concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09880", "question": "What is associated with Mammary duct ectasia?", "seeds": [ "Mammary duct ectasia" ], "gold_answer": "Abnormal breast morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09881", "question": "What is associated with Anomalous origin of the left common carotid artery from the main pulmonary artery?", "seeds": [ "Anomalous origin of the left common carotid artery from the main pulmonary artery" ], "gold_answer": "Abnormal common carotid artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09882", "question": "What is associated with Steatorrhea?", "seeds": [ "Steatorrhea" ], "gold_answer": "Fat malabsorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09883", "question": "What is associated with Hengel-Maroofian-Schols syndrome?", "seeds": [ "Hengel-Maroofian-Schols syndrome" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09884", "question": "What is associated with Rhizomelic arm shortening?", "seeds": [ "Rhizomelic arm shortening" ], "gold_answer": "Limb undergrowth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09885", "question": "What is associated with Decreased QRS voltage?", "seeds": [ "Decreased QRS voltage" ], "gold_answer": "Abnormal QRS complex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09886", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 76?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 76" ], "gold_answer": "Early onset of sexual maturation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09887", "question": "What is associated with Hypoparathyroidism-retardation-dysmorphism syndrome?", "seeds": [ "Hypoparathyroidism-retardation-dysmorphism syndrome" ], "gold_answer": "Abnormal location of ears", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09888", "question": "What is associated with Hydrolethalus syndrome 2?", "seeds": [ "Hydrolethalus syndrome 2" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09889", "question": "What is associated with Immune defect due to absence of thymus?", "seeds": [ "Immune defect due to absence of thymus" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09890", "question": "What is associated with Dementia?", "seeds": [ "Dementia" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09891", "question": "What is associated with Reduced muscle carnitine level?", "seeds": [ "Reduced muscle carnitine level" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09892", "question": "What is associated with Occupational exposure to frequent kneeling?", "seeds": [ "Occupational exposure to frequent kneeling" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09893", "question": "What is associated with Triangular epiphysis of the 1st metacarpal?", "seeds": [ "Triangular epiphysis of the 1st metacarpal" ], "gold_answer": "Abnormality of thumb epiphysis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09894", "question": "What is associated with Ichthyosis-prematurity syndrome?", "seeds": [ "Ichthyosis-prematurity syndrome" ], "gold_answer": "Respiratory insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09895", "question": "What is associated with Deafness, autosomal dominant 23?", "seeds": [ "Deafness, autosomal dominant 23" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09896", "question": "What is associated with Hypoplastic acetabulae?", "seeds": [ "Hypoplastic acetabulae" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09897", "question": "What phenotype is associated with TRACHEOBRONCHOMEGALY?", "seeds": [ "TRACHEOBRONCHOMEGALY" ], "gold_answer": "Recurrent bronchopulmonary infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09898", "question": "What is associated with Bilineage myelodysplasia?", "seeds": [ "Bilineage myelodysplasia" ], "gold_answer": "Myelodysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09899", "question": "What phenotype is associated with Lissencephaly type 3-metacarpal bone dysplasia syndrome?", "seeds": [ "Lissencephaly type 3-metacarpal bone dysplasia syndrome" ], "gold_answer": "Pulmonary hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09900", "question": "What is associated with Bracket epiphyses of the 5th toe?", "seeds": [ "Bracket epiphyses of the 5th toe" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09901", "question": "What is associated with Reduced tendon reflexes?", "seeds": [ "Reduced tendon reflexes" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09902", "question": "What is associated with Aplasia/Hypoplasia of the distal phalanx of the 5th toe?", "seeds": [ "Aplasia/Hypoplasia of the distal phalanx of the 5th toe" ], "gold_answer": "Aplasia/Hypoplasia of the distal phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09903", "question": "What is associated with Central diabetes insipidus?", "seeds": [ "Central diabetes insipidus" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09904", "question": "What phenotype is associated with Adrenocortical carcinoma, pediatric?", "seeds": [ "Adrenocortical carcinoma, pediatric" ], "gold_answer": "Adrenocortical carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09905", "question": "What is associated with Biconcave vertebral bodies?", "seeds": [ "Biconcave vertebral bodies" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09906", "question": "What is associated with Plantar flexion contracture?", "seeds": [ "Plantar flexion contracture" ], "gold_answer": "Lower-limb joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09907", "question": "What is associated with Microphthalmia, syndromic 3?", "seeds": [ "Microphthalmia, syndromic 3" ], "gold_answer": "Congenital malformation of the great arteries", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09908", "question": "What is associated with Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome?", "seeds": [ "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome" ], "gold_answer": "EEG with parietal epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09909", "question": "What is associated with Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum?", "seeds": [ "Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09910", "question": "What is associated with Vestibulocochlear dysfunction, progressive?", "seeds": [ "Vestibulocochlear dysfunction, progressive" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09911", "question": "What is associated with Freckles in sun-exposed areas?", "seeds": [ "Freckles in sun-exposed areas" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09912", "question": "What phenotype is associated with Turner syndrome?", "seeds": [ "Turner syndrome" ], "gold_answer": "Micrognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09913", "question": "What is associated with Infantile nephropathic cystinosis?", "seeds": [ "Infantile nephropathic cystinosis" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09914", "question": "What is associated with Dysplastic tricuspid valve?", "seeds": [ "Dysplastic tricuspid valve" ], "gold_answer": "Abnormal heart valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09915", "question": "What is associated with Protrusio acetabuli?", "seeds": [ "Protrusio acetabuli" ], "gold_answer": "Lower-limb joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09916", "question": "What is associated with Abnormal psychotic pattern?", "seeds": [ "Abnormal psychotic pattern" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09917", "question": "What is associated with Familial Alzheimer-like prion disease?", "seeds": [ "Familial Alzheimer-like prion disease" ], "gold_answer": "Memory impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09918", "question": "What is associated with Multiple pterygia?", "seeds": [ "Multiple pterygia" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09919", "question": "What is associated with HbS hemoglobin?", "seeds": [ "HbS hemoglobin" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09920", "question": "What phenotype is associated with Brachydactyly, type e, with atrial septal defect, type II?", "seeds": [ "Brachydactyly, type e, with atrial septal defect, type II" ], "gold_answer": "Atrial septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09921", "question": "What is associated with Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity?", "seeds": [ "Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09922", "question": "What is associated with Primary unilateral adrenal hyperplasia?", "seeds": [ "Primary unilateral adrenal hyperplasia" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09923", "question": "What is associated with Ichthyosis?", "seeds": [ "Ichthyosis" ], "gold_answer": "Epidermal thickening", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09924", "question": "What is associated with Generalized myoclonic-atonic seizure?", "seeds": [ "Generalized myoclonic-atonic seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09925", "question": "What is associated with Abnormal toe morphology?", "seeds": [ "Abnormal toe morphology" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09926", "question": "What phenotype is associated with White sponge nevus 2?", "seeds": [ "White sponge nevus 2" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09927", "question": "What is associated with Cortical peritubular capillary intraluminal thrombi?", "seeds": [ "Cortical peritubular capillary intraluminal thrombi" ], "gold_answer": "Abnormal cortical peritubular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09928", "question": "What is associated with Total anomalous pulmonary venous return 1?", "seeds": [ "Total anomalous pulmonary venous return 1" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09929", "question": "What is associated with Late infantile CLN2 disease?", "seeds": [ "Late infantile CLN2 disease" ], "gold_answer": "TPP1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_09930", "question": "What is associated with Onychoheterotopia?", "seeds": [ "Onychoheterotopia" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09931", "question": "What is associated with Pulverulent cataract?", "seeds": [ "Pulverulent cataract" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09932", "question": "What is associated with Spinocerebellar ataxia 40?", "seeds": [ "Spinocerebellar ataxia 40" ], "gold_answer": "Abnormal brainstem morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09933", "question": "What is associated with Distal tibial bowing?", "seeds": [ "Distal tibial bowing" ], "gold_answer": "Abnormality of the ankle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09934", "question": "What phenotype is associated with Deafness, aminoglycoside-induced?", "seeds": [ "Deafness, aminoglycoside-induced" ], "gold_answer": "Aminoglycoside-induced hearing loss", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09935", "question": "What is associated with Tracheal cartilaginous sleeve?", "seeds": [ "Tracheal cartilaginous sleeve" ], "gold_answer": "Anomalous tracheal cartilage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09936", "question": "What is associated with Mitochondrial neurogastrointestinal encephalomyopathy?", "seeds": [ "Mitochondrial neurogastrointestinal encephalomyopathy" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09937", "question": "What is associated with Triggered by fructose ingestion?", "seeds": [ "Triggered by fructose ingestion" ], "gold_answer": "Triggered by carbohydrate ingestion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09938", "question": "What is associated with Generalized opacification of the cornea?", "seeds": [ "Generalized opacification of the cornea" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09939", "question": "What is associated with Ovarian dysgenesis 4?", "seeds": [ "Ovarian dysgenesis 4" ], "gold_answer": "Abnormal serum estradiol", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09940", "question": "What is associated with Pulmonary pseudocavity?", "seeds": [ "Pulmonary pseudocavity" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09941", "question": "What is associated with Distal lower limb muscle weakness?", "seeds": [ "Distal lower limb muscle weakness" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09942", "question": "What is associated with Fractured manual digit?", "seeds": [ "Fractured manual digit" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09943", "question": "What is associated with Fragmentation of the epiphyses of the middle phalanges of the hand?", "seeds": [ "Fragmentation of the epiphyses of the middle phalanges of the hand" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09944", "question": "What is associated with Argininosuccinic aciduria?", "seeds": [ "Argininosuccinic aciduria" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09945", "question": "What is associated with Bleeding requiring red cell transfusion?", "seeds": [ "Bleeding requiring red cell transfusion" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09946", "question": "What is associated with Feeding difficulties?", "seeds": [ "Feeding difficulties" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09947", "question": "What is associated with Abnormal left ventricular function?", "seeds": [ "Abnormal left ventricular function" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09948", "question": "What phenotype is associated with Abruzzo-Erickson syndrome?", "seeds": [ "Abruzzo-Erickson syndrome" ], "gold_answer": "Toe syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09949", "question": "What is associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction?", "seeds": [ "Hirschsprung disease, cardiac defects, and autonomic dysfunction" ], "gold_answer": "Abnormal enteric ganglion morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09950", "question": "What is associated with Ribbonlike corneal degeneration?", "seeds": [ "Ribbonlike corneal degeneration" ], "gold_answer": "Corneal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09951", "question": "What phenotype is associated with Febrile seizures, familial, 1?", "seeds": [ "Febrile seizures, familial, 1" ], "gold_answer": "Febrile seizure (within the age range of 3 months to 6 years)", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09952", "question": "What is associated with Herpes simplex virus stromal keratitis?", "seeds": [ "Herpes simplex virus stromal keratitis" ], "gold_answer": "Abnormal corneal endothelium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09953", "question": "What is associated with Tubulointerstitial bacterial infiltration?", "seeds": [ "Tubulointerstitial bacterial infiltration" ], "gold_answer": "Abnormal renal interstitial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09954", "question": "What is associated with Elevated circulating D-glyceric acid concentration?", "seeds": [ "Elevated circulating D-glyceric acid concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09955", "question": "What is associated with Abnormal muscle fiber dystrophin expression?", "seeds": [ "Abnormal muscle fiber dystrophin expression" ], "gold_answer": "Abnormal muscle fiber protein expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09956", "question": "What is associated with Urinary hesitancy?", "seeds": [ "Urinary hesitancy" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09957", "question": "What is associated with Inflammatory poikiloderma with hair abnormalities and acral keratoses?", "seeds": [ "Inflammatory poikiloderma with hair abnormalities and acral keratoses" ], "gold_answer": "Sparse hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09958", "question": "What is associated with Acromicria?", "seeds": [ "Acromicria" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09959", "question": "What is associated with Occupational silver exposure?", "seeds": [ "Occupational silver exposure" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09960", "question": "What phenotype is associated with Immunodeficiency, common variable, 7?", "seeds": [ "Immunodeficiency, common variable, 7" ], "gold_answer": "Chronic (near) absent circulating IgG4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09961", "question": "What is associated with Hyperpigmented/hypopigmented macules?", "seeds": [ "Hyperpigmented/hypopigmented macules" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09962", "question": "What is associated with Spherocytosis, autosomal recessive?", "seeds": [ "Spherocytosis, autosomal recessive" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09963", "question": "What phenotype is associated with IVIC syndrome?", "seeds": [ "IVIC syndrome" ], "gold_answer": "Aplastic clavicles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09964", "question": "What is associated with Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome?", "seeds": [ "Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome" ], "gold_answer": "Abnormal adipose tissue morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09965", "question": "What is associated with Iris hypoperfusion?", "seeds": [ "Iris hypoperfusion" ], "gold_answer": "Abnormal iris vasculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09966", "question": "What is associated with Short uvula?", "seeds": [ "Short uvula" ], "gold_answer": "Abnormal soft palate morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09967", "question": "What is associated with Aortic arch calcification?", "seeds": [ "Aortic arch calcification" ], "gold_answer": "Arterial calcification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09968", "question": "What is associated with Intraluminal meconium calcification?", "seeds": [ "Intraluminal meconium calcification" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09969", "question": "What is associated with Complement factor H deficiency?", "seeds": [ "Complement factor H deficiency" ], "gold_answer": "Reduced circulating complement concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09970", "question": "What is associated with Abnormal 5th metacarpal morphology?", "seeds": [ "Abnormal 5th metacarpal morphology" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09971", "question": "What is associated with Abnormal fallopian tube morphology?", "seeds": [ "Abnormal fallopian tube morphology" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09972", "question": "What is associated with Spinocerebellar ataxia, X-linked 2?", "seeds": [ "Spinocerebellar ataxia, X-linked 2" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09973", "question": "What is associated with Monomelic amyotrophy?", "seeds": [ "Monomelic amyotrophy" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09974", "question": "What is associated with Epileptic encephalopathy, early infantile, 37?", "seeds": [ "Epileptic encephalopathy, early infantile, 37" ], "gold_answer": "Diminished movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09975", "question": "What is associated with Cardiac lipoma?", "seeds": [ "Cardiac lipoma" ], "gold_answer": "Lipoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09976", "question": "What phenotype is associated with Hyperlipoproteinemia, type ID?", "seeds": [ "Hyperlipoproteinemia, type ID" ], "gold_answer": "Hypertriglyceridemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09977", "question": "What is associated with Discoid adrenal gland?", "seeds": [ "Discoid adrenal gland" ], "gold_answer": "Abnormal endocrine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09978", "question": "What is associated with Failure to thrive?", "seeds": [ "Failure to thrive" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09979", "question": "What is associated with Diabetes mellitus, insulin-resistant, with acanthosis nigricans?", "seeds": [ "Diabetes mellitus, insulin-resistant, with acanthosis nigricans" ], "gold_answer": "Hyperglycemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09980", "question": "What is associated with Dentin dysplasia, type II?", "seeds": [ "Dentin dysplasia, type II" ], "gold_answer": "Abnormal dental pulp morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09981", "question": "What is associated with Broad proximal phalanx of toe?", "seeds": [ "Broad proximal phalanx of toe" ], "gold_answer": "Abnormality of toe proximal phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09982", "question": "What is associated with Resistance to activated protein C?", "seeds": [ "Resistance to activated protein C" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09983", "question": "What is associated with Agenesis of second permanent molar?", "seeds": [ "Agenesis of second permanent molar" ], "gold_answer": "Selective tooth agenesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09984", "question": "What is associated with Abnormality of the genitourinary system?", "seeds": [ "Abnormality of the genitourinary system" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09985", "question": "What phenotype is associated with Juvenile polyposis of infancy?", "seeds": [ "Juvenile polyposis of infancy" ], "gold_answer": "Mandibular pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09986", "question": "What is associated with Positive blood 1,3 beta glucan test?", "seeds": [ "Positive blood 1,3 beta glucan test" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09987", "question": "What is associated with Ichthyosis, hystrix-like, with deafness?", "seeds": [ "Ichthyosis, hystrix-like, with deafness" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09988", "question": "What is associated with Kabuki syndrome?", "seeds": [ "Kabuki syndrome" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09989", "question": "What is associated with Elevated urinary indican level?", "seeds": [ "Elevated urinary indican level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09990", "question": "What is associated with Sporadic infantile bilateral striatal necrosis?", "seeds": [ "Sporadic infantile bilateral striatal necrosis" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09991", "question": "What is associated with Hemimacroglossia?", "seeds": [ "Hemimacroglossia" ], "gold_answer": "Macroglossia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09992", "question": "What phenotype is associated with DOORS syndrome?", "seeds": [ "DOORS syndrome" ], "gold_answer": "Widely spaced teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_09993", "question": "What is associated with Decreased thyroid-stimulating hormone level?", "seeds": [ "Decreased thyroid-stimulating hormone level" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09994", "question": "What is associated with Absence of labia majora?", "seeds": [ "Absence of labia majora" ], "gold_answer": "Abnormal labia majora morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09995", "question": "What is associated with Elbow flexion contracture?", "seeds": [ "Elbow flexion contracture" ], "gold_answer": "Abnormality of the elbow", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_09996", "question": "What is associated with Prolonged bleeding after surgery?", "seeds": [ "Prolonged bleeding after surgery" ], "gold_answer": "Prolonged bleeding following procedure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_09997", "question": "What is associated with Deep episcleral hyperemia?", "seeds": [ "Deep episcleral hyperemia" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09998", "question": "What is associated with Fetal narcotic exposure?", "seeds": [ "Fetal narcotic exposure" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_09999", "question": "What is associated with Acromelic frontonasal dysplasia?", "seeds": [ "Acromelic frontonasal dysplasia" ], "gold_answer": "Intracranial cystic lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10000", "question": "What is associated with Cardiac valvular dysplasia 2?", "seeds": [ "Cardiac valvular dysplasia 2" ], "gold_answer": "Cyanosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10001", "question": "What is associated with Irregular epiphysis of the proximal phalanx of the 3rd finger?", "seeds": [ "Irregular epiphysis of the proximal phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10002", "question": "What phenotype is associated with Rhizomelic chondrodysplasia punctata, type 3?", "seeds": [ "Rhizomelic chondrodysplasia punctata, type 3" ], "gold_answer": "Epiphyseal stippling", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10003", "question": "What is associated with Anti-integrin antibody positivity?", "seeds": [ "Anti-integrin antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10004", "question": "What phenotype is associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia?", "seeds": [ "Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" ], "gold_answer": "Frontotemporal dementia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10005", "question": "What is associated with Intention tremor?", "seeds": [ "Intention tremor" ], "gold_answer": "Kinetic tremor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10006", "question": "What phenotype is associated with Hyperproinsulinemia?", "seeds": [ "Hyperproinsulinemia" ], "gold_answer": "Hyperinsulinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10007", "question": "What phenotype is associated with Scott syndrome?", "seeds": [ "Scott syndrome" ], "gold_answer": "Prolonged bleeding after surgery", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10008", "question": "What is associated with Hypersarcosinuria?", "seeds": [ "Hypersarcosinuria" ], "gold_answer": "Increased proteinogenic amino acid level in urine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10009", "question": "What is associated with Conjunctival lipoma?", "seeds": [ "Conjunctival lipoma" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10010", "question": "What is associated with Sonographic renal salt and pepper pattern?", "seeds": [ "Sonographic renal salt and pepper pattern" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10011", "question": "What is associated with Ovarian dysgenesis 2?", "seeds": [ "Ovarian dysgenesis 2" ], "gold_answer": "Hypogonadism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10012", "question": "What phenotype is associated with Bardet-Biedl syndrome 18?", "seeds": [ "Bardet-Biedl syndrome 18" ], "gold_answer": "Rod-cone dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10013", "question": "What is associated with Amelogenesis imperfecta, type IA?", "seeds": [ "Amelogenesis imperfecta, type IA" ], "gold_answer": "Abnormal dental morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10014", "question": "What phenotype is associated with Welander distal myopathy?", "seeds": [ "Welander distal myopathy" ], "gold_answer": "Mildly elevated creatine kinase", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10015", "question": "What phenotype is associated with Myopathy, X-linked, with postural muscle atrophy?", "seeds": [ "Myopathy, X-linked, with postural muscle atrophy" ], "gold_answer": "Short neck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10016", "question": "What is associated with Penile swelling?", "seeds": [ "Penile swelling" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10017", "question": "What is associated with Hypermobility of distal interphalangeal joints?", "seeds": [ "Hypermobility of distal interphalangeal joints" ], "gold_answer": "Hypermobility of interphalangeal joints", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10018", "question": "What phenotype is associated with Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)?", "seeds": [ "Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)" ], "gold_answer": "Diffuse demyelination of the cerebral white matter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10019", "question": "What is associated with Exercise-induced malignant hyperthermia?", "seeds": [ "Exercise-induced malignant hyperthermia" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10020", "question": "What is associated with Fatigable weakness?", "seeds": [ "Fatigable weakness" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10021", "question": "What is associated with Decreased T cell apoptosis?", "seeds": [ "Decreased T cell apoptosis" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10022", "question": "What is associated with Hypotrichosis 15?", "seeds": [ "Hypotrichosis 15" ], "gold_answer": "Sparse hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10023", "question": "What is associated with Reduced CD95-induced lymphocyte apoptosis?", "seeds": [ "Reduced CD95-induced lymphocyte apoptosis" ], "gold_answer": "Decreased T cell apoptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10024", "question": "What is associated with Cervical vertebral bodies with decreased anteroposterior diameter?", "seeds": [ "Cervical vertebral bodies with decreased anteroposterior diameter" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10025", "question": "What is associated with Hyporeflective spaces on macular OCT?", "seeds": [ "Hyporeflective spaces on macular OCT" ], "gold_answer": "Abnormal retinal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10026", "question": "What is associated with Asynergia?", "seeds": [ "Asynergia" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10027", "question": "What is associated with Contracture of the proximal interphalangeal joint of the 4th finger?", "seeds": [ "Contracture of the proximal interphalangeal joint of the 4th finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10028", "question": "What is associated with Increased circulating creatine kinase MM isoform?", "seeds": [ "Increased circulating creatine kinase MM isoform" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10029", "question": "What is associated with Fungal meningitis?", "seeds": [ "Fungal meningitis" ], "gold_answer": "Meningitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10030", "question": "What phenotype is associated with Migraine with or without aura, susceptibility to, 3?", "seeds": [ "Migraine with or without aura, susceptibility to, 3" ], "gold_answer": "Phonophobia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10031", "question": "What is associated with Increased CSF aspartate concentration?", "seeds": [ "Increased CSF aspartate concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10032", "question": "What is associated with Hypoganglionosis?", "seeds": [ "Hypoganglionosis" ], "gold_answer": "Abnormal enteric ganglion morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10033", "question": "What is associated with Pectus carinatum?", "seeds": [ "Pectus carinatum" ], "gold_answer": "Abnormal sternum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10034", "question": "What is associated with Chronic fatigue?", "seeds": [ "Chronic fatigue" ], "gold_answer": "Fatigue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10035", "question": "What is associated with Heinz body anemia?", "seeds": [ "Heinz body anemia" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10036", "question": "What is associated with Early chronotype?", "seeds": [ "Early chronotype" ], "gold_answer": "Sleep-wake cycle disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10037", "question": "What is associated with Poor gross motor coordination?", "seeds": [ "Poor gross motor coordination" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10038", "question": "What is associated with Pulmonary pseudocavity?", "seeds": [ "Pulmonary pseudocavity" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10039", "question": "What is associated with Hypoplastic fifth toenail?", "seeds": [ "Hypoplastic fifth toenail" ], "gold_answer": "Abnormal toenail morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10040", "question": "What is associated with Cowden syndrome 6?", "seeds": [ "Cowden syndrome 6" ], "gold_answer": "Neoplasm of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10041", "question": "What is associated with Spastic paraplegia 53, autosomal recessive?", "seeds": [ "Spastic paraplegia 53, autosomal recessive" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10042", "question": "What is associated with Primary condylar hyperplasia?", "seeds": [ "Primary condylar hyperplasia" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10043", "question": "What is associated with Renal lymphocytic tubulitis?", "seeds": [ "Renal lymphocytic tubulitis" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10044", "question": "What is associated with Fatigable weakness of speech muscles?", "seeds": [ "Fatigable weakness of speech muscles" ], "gold_answer": "Fatigable weakness of bulbar muscles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10045", "question": "What is associated with Hyperuricemic nephropathy, familial juvenile, 2?", "seeds": [ "Hyperuricemic nephropathy, familial juvenile, 2" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10046", "question": "What is associated with Recurrent interdigital mycosis?", "seeds": [ "Recurrent interdigital mycosis" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10047", "question": "What is associated with Diffuse cerebral calcification?", "seeds": [ "Diffuse cerebral calcification" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10048", "question": "What is associated with Distal renal tubular acidosis?", "seeds": [ "Distal renal tubular acidosis" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10049", "question": "What is associated with Acrosomal hypoplasia?", "seeds": [ "Acrosomal hypoplasia" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10050", "question": "What is associated with Severe acute respiratory syndrome?", "seeds": [ "Severe acute respiratory syndrome" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10051", "question": "What is associated with High renal tubular epithelial cell N/C ratio?", "seeds": [ "High renal tubular epithelial cell N/C ratio" ], "gold_answer": "Abnormal renal tubular epithelial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10052", "question": "What phenotype is associated with Congenital primary aphakia?", "seeds": [ "Congenital primary aphakia" ], "gold_answer": "Chorioretinal hypopigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10053", "question": "What is associated with Nuchal cord?", "seeds": [ "Nuchal cord" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10054", "question": "What is associated with Laryngeal carcinoma?", "seeds": [ "Laryngeal carcinoma" ], "gold_answer": "Neoplasm of the larynx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10055", "question": "What is associated with Spiral fracture?", "seeds": [ "Spiral fracture" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10056", "question": "What is associated with Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome?", "seeds": [ "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10057", "question": "What is associated with 1-4 finger cutaneous syndactyly?", "seeds": [ "1-4 finger cutaneous syndactyly" ], "gold_answer": "Finger syndactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10058", "question": "What is associated with Abnormal lung lobation?", "seeds": [ "Abnormal lung lobation" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10059", "question": "What is associated with Increased urinary multiantennary sialylated oligosaccharide?", "seeds": [ "Increased urinary multiantennary sialylated oligosaccharide" ], "gold_answer": "Abnormal urine carbohydrate level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10060", "question": "What phenotype is associated with Isolated thyroid-stimulating hormone deficiency?", "seeds": [ "Isolated thyroid-stimulating hormone deficiency" ], "gold_answer": "Delayed proximal femoral epiphyseal ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10061", "question": "What is associated with Sloping ulnar metaphysis?", "seeds": [ "Sloping ulnar metaphysis" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10062", "question": "What is associated with Anonychia-microcephaly syndrome?", "seeds": [ "Anonychia-microcephaly syndrome" ], "gold_answer": "Single transverse palmar crease", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10063", "question": "What is associated with Abnormality of the proximal humeral epiphysis?", "seeds": [ "Abnormality of the proximal humeral epiphysis" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10064", "question": "What is associated with First dorsal interossei muscle atrophy?", "seeds": [ "First dorsal interossei muscle atrophy" ], "gold_answer": "Interosseus muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10065", "question": "What is associated with Abnormal circulating properdin level?", "seeds": [ "Abnormal circulating properdin level" ], "gold_answer": "Abnormal circulating beta globulin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10066", "question": "What is associated with Xeroderma pigmentosum, complementation group F?", "seeds": [ "Xeroderma pigmentosum, complementation group F" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10067", "question": "What phenotype is associated with Panencephalitis, subacute sclerosing?", "seeds": [ "Panencephalitis, subacute sclerosing" ], "gold_answer": "Infectious encephalitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10068", "question": "What is associated with Localized to the lower eyelid?", "seeds": [ "Localized to the lower eyelid" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10069", "question": "What is associated with Focal impaired awareness cognitive seizure with forced thinking?", "seeds": [ "Focal impaired awareness cognitive seizure with forced thinking" ], "gold_answer": "Psychic epileptic aura", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10070", "question": "What is associated with Pancreatic lymphangiectasis?", "seeds": [ "Pancreatic lymphangiectasis" ], "gold_answer": "Lymphangiectasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10071", "question": "What is associated with Positive gastric CMV intranuclear inclusions?", "seeds": [ "Positive gastric CMV intranuclear inclusions" ], "gold_answer": "Pathological inclusion body by subcellular location", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10072", "question": "What is associated with Diminished urine glutamine level?", "seeds": [ "Diminished urine glutamine level" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10073", "question": "What is associated with Deafness, autosomal recessive 108?", "seeds": [ "Deafness, autosomal recessive 108" ], "gold_answer": "Coloboma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10074", "question": "What phenotype is associated with Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities?", "seeds": [ "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities" ], "gold_answer": "High palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10075", "question": "What is associated with Abnormality of the gastrointestinal tract?", "seeds": [ "Abnormality of the gastrointestinal tract" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10076", "question": "What is associated with Glycosylphosphatidylinositol biosynthesis defect 18?", "seeds": [ "Glycosylphosphatidylinositol biosynthesis defect 18" ], "gold_answer": "Hernia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10077", "question": "What phenotype is associated with Lymphoproliferative syndrome 3?", "seeds": [ "Lymphoproliferative syndrome 3" ], "gold_answer": "Severe varicella zoster infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10078", "question": "What is associated with Post-partum hemorrhage?", "seeds": [ "Post-partum hemorrhage" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10079", "question": "What is associated with Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency?", "seeds": [ "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10080", "question": "What is associated with Decreased CSF valine concentration?", "seeds": [ "Decreased CSF valine concentration" ], "gold_answer": "Abnormal CSF valine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10081", "question": "What is associated with Focal impaired awareness epileptic spasm?", "seeds": [ "Focal impaired awareness epileptic spasm" ], "gold_answer": "Focal-onset epileptic spasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10082", "question": "What is associated with Abnormal small intestinal mucosa morphology?", "seeds": [ "Abnormal small intestinal mucosa morphology" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10083", "question": "What is associated with Moderate multiminicore disease with hand involvement?", "seeds": [ "Moderate multiminicore disease with hand involvement" ], "gold_answer": "Abnormality of facial musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10084", "question": "What is associated with Type 1 and type 2 muscle fiber minicore regions?", "seeds": [ "Type 1 and type 2 muscle fiber minicore regions" ], "gold_answer": "Minicore myopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10085", "question": "What is associated with Apical muscular ventricular septal defect?", "seeds": [ "Apical muscular ventricular septal defect" ], "gold_answer": "Abnormal ventricular septum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10086", "question": "What is associated with Thistle tube shaped pulp?", "seeds": [ "Thistle tube shaped pulp" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10087", "question": "What is associated with Decreased skin turgor?", "seeds": [ "Decreased skin turgor" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10088", "question": "What is associated with Hypotrichosis 13?", "seeds": [ "Hypotrichosis 13" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10089", "question": "What is associated with Basal ganglia gliosis?", "seeds": [ "Basal ganglia gliosis" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10090", "question": "What is associated with Left ventricular outflow tract obstruction?", "seeds": [ "Left ventricular outflow tract obstruction" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10091", "question": "What is associated with Seizures, benign familial infantile, 2?", "seeds": [ "Seizures, benign familial infantile, 2" ], "gold_answer": "Infection-related seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10092", "question": "What is associated with Endometrial carcinoma?", "seeds": [ "Endometrial carcinoma" ], "gold_answer": "Genital neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10093", "question": "What is associated with Pseudoepiphysis of the distal phalanx of the 5th toe?", "seeds": [ "Pseudoepiphysis of the distal phalanx of the 5th toe" ], "gold_answer": "Pseudoepiphyses of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10094", "question": "What is associated with Small thumb epiphysis?", "seeds": [ "Small thumb epiphysis" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10095", "question": "What is associated with Increased pulmonary capillary wedge pressure?", "seeds": [ "Increased pulmonary capillary wedge pressure" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10096", "question": "What is associated with Nasopharyngeal carcinoma, susceptibility to, 2?", "seeds": [ "Nasopharyngeal carcinoma, susceptibility to, 2" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10097", "question": "What is associated with Cor triatriatum sinister?", "seeds": [ "Cor triatriatum sinister" ], "gold_answer": "Abnormal cardiac atrium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10098", "question": "What is associated with Anterior wedging of T12?", "seeds": [ "Anterior wedging of T12" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10099", "question": "What is associated with Intellectual developmental disorder with cardiac arrhythmia?", "seeds": [ "Intellectual developmental disorder with cardiac arrhythmia" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10100", "question": "What is associated with Triggered by head trauma?", "seeds": [ "Triggered by head trauma" ], "gold_answer": "Triggered by physical trauma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10101", "question": "What is associated with Spastic paralysis, infantile-onset ascending?", "seeds": [ "Spastic paralysis, infantile-onset ascending" ], "gold_answer": "Abnormal peripheral nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10102", "question": "What phenotype is associated with Hereditary hyperferritinemia-cataract syndrome?", "seeds": [ "Hereditary hyperferritinemia-cataract syndrome" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10103", "question": "What is associated with Calcium channel antibody positivity?", "seeds": [ "Calcium channel antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10104", "question": "What is associated with Bracket epiphyses of the middle phalanges of the hand?", "seeds": [ "Bracket epiphyses of the middle phalanges of the hand" ], "gold_answer": "Abnormal hand epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10105", "question": "What is associated with Abnormal circulating hormone concentration?", "seeds": [ "Abnormal circulating hormone concentration" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10106", "question": "What is associated with Abnormal cochlea morphology?", "seeds": [ "Abnormal cochlea morphology" ], "gold_answer": "Abnormal inner ear morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10107", "question": "What is associated with Axial?", "seeds": [ "Axial" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10108", "question": "What is associated with Sneddon syndrome?", "seeds": [ "Sneddon syndrome" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10109", "question": "What is associated with Histiocytosis-lymphadenopathy plus syndrome?", "seeds": [ "Histiocytosis-lymphadenopathy plus syndrome" ], "gold_answer": "Hypoplasia of penis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10110", "question": "What is associated with Supernumerary nostril?", "seeds": [ "Supernumerary nostril" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10111", "question": "What is associated with Autoimmune hemolytic anemia?", "seeds": [ "Autoimmune hemolytic anemia" ], "gold_answer": "Anemia due to reduced life span of red cells", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10112", "question": "What is associated with Esophageal diverticulum?", "seeds": [ "Esophageal diverticulum" ], "gold_answer": "Abnormal esophagus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10113", "question": "What is associated with Excessively loud speech?", "seeds": [ "Excessively loud speech" ], "gold_answer": "Abnormal speech volume", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10114", "question": "What is associated with Exstrophy?", "seeds": [ "Exstrophy" ], "gold_answer": "Abnormal abdominal wall morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10115", "question": "What is associated with Keratinocyte vacuolization?", "seeds": [ "Keratinocyte vacuolization" ], "gold_answer": "Abnormal epidermal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10116", "question": "What is associated with Acquired partial lipodystrophy?", "seeds": [ "Acquired partial lipodystrophy" ], "gold_answer": "Prematurely aged appearance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10117", "question": "What is associated with Lymphangiectasis?", "seeds": [ "Lymphangiectasis" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10118", "question": "What is associated with X-linked Charcot-Marie-Tooth disease type 2?", "seeds": [ "X-linked Charcot-Marie-Tooth disease type 2" ], "gold_answer": "Abnormality of the musculature of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10119", "question": "What phenotype is associated with Spermatogenic failure 82?", "seeds": [ "Spermatogenic failure 82" ], "gold_answer": "Short sperm flagella", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10120", "question": "What phenotype is associated with Hemolytic anemia, congenital, X-linked?", "seeds": [ "Hemolytic anemia, congenital, X-linked" ], "gold_answer": "Hemolytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10121", "question": "What is associated with Abnormal fetal femur length?", "seeds": [ "Abnormal fetal femur length" ], "gold_answer": "Abnormal fetal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10122", "question": "What is associated with Reduced glutathione synthetase level?", "seeds": [ "Reduced glutathione synthetase level" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10123", "question": "What is associated with Elevated circulating glucosylsphingosine concentration?", "seeds": [ "Elevated circulating glucosylsphingosine concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10124", "question": "What is associated with Rhizomelic chondrodysplasia punctata, type 5?", "seeds": [ "Rhizomelic chondrodysplasia punctata, type 5" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10125", "question": "What is associated with Primary failure of tooth eruption?", "seeds": [ "Primary failure of tooth eruption" ], "gold_answer": "PTH1R", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_10126", "question": "What phenotype is associated with Cole-Carpenter syndrome 2?", "seeds": [ "Cole-Carpenter syndrome 2" ], "gold_answer": "Dentinogenesis imperfecta", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10127", "question": "What is associated with Hypotrichosis 2?", "seeds": [ "Hypotrichosis 2" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10128", "question": "What is associated with Impaired Ig class switch recombination?", "seeds": [ "Impaired Ig class switch recombination" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10129", "question": "What is associated with Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome?", "seeds": [ "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10130", "question": "What is associated with Anti-PM-Scl100 antibody positivity?", "seeds": [ "Anti-PM-Scl100 antibody positivity" ], "gold_answer": "Anti-PM-Scl antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10131", "question": "What is associated with Aplastic pubic bone?", "seeds": [ "Aplastic pubic bone" ], "gold_answer": "Abnormal hip bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10132", "question": "What is associated with Anti-soluble liver antigen/liver pancreas antibody positivity?", "seeds": [ "Anti-soluble liver antigen/liver pancreas antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10133", "question": "What is associated with Spastic paraplegia-glaucoma-intellectual disability syndrome?", "seeds": [ "Spastic paraplegia-glaucoma-intellectual disability syndrome" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10134", "question": "What is associated with Congenital onychodystrophy?", "seeds": [ "Congenital onychodystrophy" ], "gold_answer": "Nail dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10135", "question": "What phenotype is associated with Skin creases, congenital symmetric circumferential, 2?", "seeds": [ "Skin creases, congenital symmetric circumferential, 2" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10136", "question": "What is associated with Hypoplastic pubic ramus?", "seeds": [ "Hypoplastic pubic ramus" ], "gold_answer": "Aplasia/Hypoplasia of the pubic bone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10137", "question": "What is associated with Oculocerebral hypopigmentation syndrome, Cross type?", "seeds": [ "Oculocerebral hypopigmentation syndrome, Cross type" ], "gold_answer": "Macular thickening", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10138", "question": "What is associated with RELA fusion-positive ependymoma?", "seeds": [ "RELA fusion-positive ependymoma" ], "gold_answer": "RELA", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_10139", "question": "What is associated with Cardiomyopathy, dilated, 1H?", "seeds": [ "Cardiomyopathy, dilated, 1H" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10140", "question": "What phenotype is associated with Facial clefting, oblique, 1?", "seeds": [ "Facial clefting, oblique, 1" ], "gold_answer": "Talipes calcaneovalgus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10141", "question": "What is associated with Coronary arterial fistula?", "seeds": [ "Coronary arterial fistula" ], "gold_answer": "Abnormal atrial septum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10142", "question": "What is associated with Infantile onset?", "seeds": [ "Infantile onset" ], "gold_answer": "Pediatric onset", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10143", "question": "What is associated with Fibromatosis, gingival, 1?", "seeds": [ "Fibromatosis, gingival, 1" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10144", "question": "What is associated with Disturbance of facial expression?", "seeds": [ "Disturbance of facial expression" ], "gold_answer": "Abnormal facial expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10145", "question": "What is associated with Estrogen resistance?", "seeds": [ "Estrogen resistance" ], "gold_answer": "Elevated tissue non-specific alkaline phosphatase", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10146", "question": "What is associated with Glutamine deficiency, congenital?", "seeds": [ "Glutamine deficiency, congenital" ], "gold_answer": "Limb undergrowth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10147", "question": "What is associated with ACCES syndrome?", "seeds": [ "ACCES syndrome" ], "gold_answer": "BMS1", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10148", "question": "What is associated with Aplasia/hypoplasia of the humerus?", "seeds": [ "Aplasia/hypoplasia of the humerus" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10149", "question": "What phenotype is associated with Situs inversus totalis?", "seeds": [ "Situs inversus totalis" ], "gold_answer": "Neuroblastoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10150", "question": "What is associated with Red skin pigment anomaly of new guinea?", "seeds": [ "Red skin pigment anomaly of new guinea" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10151", "question": "What is associated with Focal aware cognitive seizure with receptive dysphasia/aphasia?", "seeds": [ "Focal aware cognitive seizure with receptive dysphasia/aphasia" ], "gold_answer": "Focal aware seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10152", "question": "What is associated with Micronodular cirrhosis?", "seeds": [ "Micronodular cirrhosis" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10153", "question": "What is associated with Salty tasting skin?", "seeds": [ "Salty tasting skin" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10154", "question": "What is associated with Isolated cerebellar agenesis?", "seeds": [ "Isolated cerebellar agenesis" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10155", "question": "What is associated with Carnitinuria?", "seeds": [ "Carnitinuria" ], "gold_answer": "Abnormal urine carboxylic acid level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10156", "question": "What phenotype is associated with Macdermot-Winter syndrome?", "seeds": [ "Macdermot-Winter syndrome" ], "gold_answer": "Wide intermamillary distance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10157", "question": "What is associated with Osteopenia-intellectual disability-sparse hair syndrome?", "seeds": [ "Osteopenia-intellectual disability-sparse hair syndrome" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10158", "question": "What is associated with Increased density of long bone diaphyses?", "seeds": [ "Increased density of long bone diaphyses" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10159", "question": "What is associated with Broad 5th toe?", "seeds": [ "Broad 5th toe" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10160", "question": "What is associated with Oligodontia?", "seeds": [ "Oligodontia" ], "gold_answer": "Abnormal dental pulp morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10161", "question": "What is associated with Exacerbated by amiodarone exposure?", "seeds": [ "Exacerbated by amiodarone exposure" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10162", "question": "What is associated with Increased vertical cup-to-disc ratio?", "seeds": [ "Increased vertical cup-to-disc ratio" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10163", "question": "What phenotype is associated with Cardiofaciocutaneous syndrome 1?", "seeds": [ "Cardiofaciocutaneous syndrome 1" ], "gold_answer": "Gastroesophageal reflux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10164", "question": "What is associated with Reduced social reciprocity?", "seeds": [ "Reduced social reciprocity" ], "gold_answer": "Abnormal social development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10165", "question": "What is associated with Craniofacial dysostosis-diaphyseal hyperplasia syndrome?", "seeds": [ "Craniofacial dysostosis-diaphyseal hyperplasia syndrome" ], "gold_answer": "Limb undergrowth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10166", "question": "What is associated with Abnormal alpha granule distribution?", "seeds": [ "Abnormal alpha granule distribution" ], "gold_answer": "Abnormal platelet morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10167", "question": "What is associated with Cone-Rod dystrophy, X-linked, 2?", "seeds": [ "Cone-Rod dystrophy, X-linked, 2" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10168", "question": "What is associated with Secondary Caesarian section?", "seeds": [ "Secondary Caesarian section" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10169", "question": "What is associated with Drusen?", "seeds": [ "Drusen" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10170", "question": "What is associated with Absence of labia majora?", "seeds": [ "Absence of labia majora" ], "gold_answer": "Abnormal labia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10171", "question": "What is associated with Decreased sensory nerve conduction velocity?", "seeds": [ "Decreased sensory nerve conduction velocity" ], "gold_answer": "Decreased nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10172", "question": "What is associated with Dysmetric vertical saccades?", "seeds": [ "Dysmetric vertical saccades" ], "gold_answer": "Dysmetric saccades", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10173", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 77?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 77" ], "gold_answer": "Unsteady gait", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10174", "question": "What is associated with Absent humeral epiphyseal ossification?", "seeds": [ "Absent humeral epiphyseal ossification" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10175", "question": "What is associated with Elevated circulating sCD25 concentration?", "seeds": [ "Elevated circulating sCD25 concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10176", "question": "What phenotype is associated with Obesity, susceptibility to, BMIQ14?", "seeds": [ "Obesity, susceptibility to, BMIQ14" ], "gold_answer": "Obesity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10177", "question": "What is associated with Robinow syndrome, autosomal dominant 2?", "seeds": [ "Robinow syndrome, autosomal dominant 2" ], "gold_answer": "Abnormal soft palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10178", "question": "What is associated with Fractured thumb phalanx?", "seeds": [ "Fractured thumb phalanx" ], "gold_answer": "Fractured finger phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10179", "question": "What is associated with Abnormal reticulocyte morphology?", "seeds": [ "Abnormal reticulocyte morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10180", "question": "What is associated with Xeroderma pigmentosum variant?", "seeds": [ "Xeroderma pigmentosum variant" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10181", "question": "What is associated with Adult Refsum disease?", "seeds": [ "Adult Refsum disease" ], "gold_answer": "Abnormal abdomen morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10182", "question": "What is associated with Spermatogenic failure 58?", "seeds": [ "Spermatogenic failure 58" ], "gold_answer": "Abnormal spermatogenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10183", "question": "What is associated with Fractured pisiform bone?", "seeds": [ "Fractured pisiform bone" ], "gold_answer": "Fractured carpal bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10184", "question": "What is associated with Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy?", "seeds": [ "Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy" ], "gold_answer": "Abnormal peripheral nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10185", "question": "What phenotype is associated with Congenital disorder of glycosylation, type IIl?", "seeds": [ "Congenital disorder of glycosylation, type IIl" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10186", "question": "What is associated with Aplasia of the phalanges of the 5th toe?", "seeds": [ "Aplasia of the phalanges of the 5th toe" ], "gold_answer": "Aplasia/hypoplasia involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10187", "question": "What is associated with Unicoronal synostosis?", "seeds": [ "Unicoronal synostosis" ], "gold_answer": "Craniosynostosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10188", "question": "What is associated with GLUCOGLYCINURIA?", "seeds": [ "GLUCOGLYCINURIA" ], "gold_answer": "Increased proteinogenic amino acid level in urine", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10189", "question": "What is associated with Abnormality of globe location?", "seeds": [ "Abnormality of globe location" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10190", "question": "What is associated with Idiopathic bilateral vestibulopathy?", "seeds": [ "Idiopathic bilateral vestibulopathy" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10191", "question": "What is associated with Abnormality of the radial head?", "seeds": [ "Abnormality of the radial head" ], "gold_answer": "Abnormal morphology of the radius", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10192", "question": "What is associated with Premature epimetaphyseal fusion in radius?", "seeds": [ "Premature epimetaphyseal fusion in radius" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10193", "question": "What phenotype is associated with Spinal muscular atrophy, type II?", "seeds": [ "Spinal muscular atrophy, type II" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10194", "question": "What is associated with Abnormal CSF dopamine concentration?", "seeds": [ "Abnormal CSF dopamine concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10195", "question": "What phenotype is associated with Bronchiolitis obliterans?", "seeds": [ "Bronchiolitis obliterans" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10196", "question": "What is associated with Grayish enamel?", "seeds": [ "Grayish enamel" ], "gold_answer": "Abnormal dental enamel morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10197", "question": "What is associated with Abnormal shoulder physiology?", "seeds": [ "Abnormal shoulder physiology" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10198", "question": "What is associated with Chronic constipation?", "seeds": [ "Chronic constipation" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10199", "question": "What is associated with Renal interstitial amyloid deposits?", "seeds": [ "Renal interstitial amyloid deposits" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10200", "question": "What is associated with Abnormal ocular adnexa morphology?", "seeds": [ "Abnormal ocular adnexa morphology" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10201", "question": "What is associated with Fragile X tremor/ataxia syndrome?", "seeds": [ "Fragile X tremor/ataxia syndrome" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10202", "question": "What is associated with Myopia 22, autosomal dominant?", "seeds": [ "Myopia 22, autosomal dominant" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10203", "question": "What is associated with Gait ataxia?", "seeds": [ "Gait ataxia" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10204", "question": "What is associated with Abnormal R wave?", "seeds": [ "Abnormal R wave" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10205", "question": "What is associated with Fifth finger symphalangism?", "seeds": [ "Fifth finger symphalangism" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10206", "question": "What is associated with Focal aware cognitive seizure with forced thinking?", "seeds": [ "Focal aware cognitive seizure with forced thinking" ], "gold_answer": "Focal cognitive seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10207", "question": "What is associated with ALDH18A1-related De Barsy syndrome?", "seeds": [ "ALDH18A1-related De Barsy syndrome" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10208", "question": "What is associated with Hypogonadotropic hypogonadism 27 without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 27 without anosmia" ], "gold_answer": "Decreased circulating gonadotropin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10209", "question": "What phenotype is associated with Polydactyly, preaxial III?", "seeds": [ "Polydactyly, preaxial III" ], "gold_answer": "Triphalangeal thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10210", "question": "What is associated with Aniridia-renal agenesis-psychomotor retardation syndrome?", "seeds": [ "Aniridia-renal agenesis-psychomotor retardation syndrome" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10211", "question": "What is associated with Facial paresis, hereditary congenital, 3?", "seeds": [ "Facial paresis, hereditary congenital, 3" ], "gold_answer": "Abnormality of facial musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10212", "question": "What phenotype is associated with Peroxisome biogenesis disorder 12A (Zellweger)?", "seeds": [ "Peroxisome biogenesis disorder 12A (Zellweger)" ], "gold_answer": "Pseudocoarctation of the aorta", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10213", "question": "What is associated with Adenocarcinoma of the small intestine?", "seeds": [ "Adenocarcinoma of the small intestine" ], "gold_answer": "Gastrointestinal carcinoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10214", "question": "What is associated with Mycobacterium bacteremia?", "seeds": [ "Mycobacterium bacteremia" ], "gold_answer": "Bloodstream infectious agent", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10215", "question": "What phenotype is associated with Kaposi sarcoma?", "seeds": [ "Kaposi sarcoma" ], "gold_answer": "Skin nodule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10216", "question": "What phenotype is associated with Hirschsprung disease, susceptibility to, 4?", "seeds": [ "Hirschsprung disease, susceptibility to, 4" ], "gold_answer": "Aganglionic megacolon", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10217", "question": "What is associated with Congenital bilateral ptosis?", "seeds": [ "Congenital bilateral ptosis" ], "gold_answer": "Congenital ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10218", "question": "What is associated with Scapuloperoneal amyotrophy?", "seeds": [ "Scapuloperoneal amyotrophy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10219", "question": "What is associated with Small humeral epiphyses?", "seeds": [ "Small humeral epiphyses" ], "gold_answer": "Abnormal humeral epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10220", "question": "What is associated with Abnormal Humphrey SITA 10-2 perimetry test?", "seeds": [ "Abnormal Humphrey SITA 10-2 perimetry test" ], "gold_answer": "Abnormal visual field test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10221", "question": "What is associated with Lethal congenital contracture syndrome 8?", "seeds": [ "Lethal congenital contracture syndrome 8" ], "gold_answer": "Somatic sensory dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10222", "question": "What is associated with Tetraplegia/tetraparesis?", "seeds": [ "Tetraplegia/tetraparesis" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10223", "question": "What is associated with Status post organ transplantation?", "seeds": [ "Status post organ transplantation" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10224", "question": "What is associated with Abnormal urinary nitrogen compound level?", "seeds": [ "Abnormal urinary nitrogen compound level" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10225", "question": "What is associated with Anti-GlyR antibody?", "seeds": [ "Anti-GlyR antibody" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10226", "question": "What is associated with Episodic paroxysmal anxiety?", "seeds": [ "Episodic paroxysmal anxiety" ], "gold_answer": "Anxiety", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10227", "question": "What is associated with Ventral shortening of foreskin?", "seeds": [ "Ventral shortening of foreskin" ], "gold_answer": "Abnormal preputium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10228", "question": "What phenotype is associated with Vitreoretinopathy, neovascular inflammatory?", "seeds": [ "Vitreoretinopathy, neovascular inflammatory" ], "gold_answer": "Vitreoretinopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10229", "question": "What is associated with Pseudohypoparathyroidism?", "seeds": [ "Pseudohypoparathyroidism" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10230", "question": "What is associated with Lethal acantholytic erosive disorder?", "seeds": [ "Lethal acantholytic erosive disorder" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10231", "question": "What is associated with Microvillus inclusion disease?", "seeds": [ "Microvillus inclusion disease" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10232", "question": "What is associated with Diabetes mellitus, permanent neonatal 4?", "seeds": [ "Diabetes mellitus, permanent neonatal 4" ], "gold_answer": "Diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10233", "question": "What phenotype is associated with Sveinsson chorioretinal atrophy?", "seeds": [ "Sveinsson chorioretinal atrophy" ], "gold_answer": "Astigmatism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10234", "question": "What is associated with Microcephalic primordial dwarfism, Montreal type?", "seeds": [ "Microcephalic primordial dwarfism, Montreal type" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10235", "question": "What phenotype is associated with Acrofrontofacionasal dysostosis 2?", "seeds": [ "Acrofrontofacionasal dysostosis 2" ], "gold_answer": "Posteriorly rotated ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10236", "question": "What is associated with Hyperglutaminemia?", "seeds": [ "Hyperglutaminemia" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10237", "question": "What phenotype is associated with Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities?", "seeds": [ "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities" ], "gold_answer": "Long eyelashes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10238", "question": "What is associated with Cerebrooculonasal syndrome?", "seeds": [ "Cerebrooculonasal syndrome" ], "gold_answer": "External genital hypoplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10239", "question": "What is associated with Abnormal CSF glycine concentration?", "seeds": [ "Abnormal CSF glycine concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10240", "question": "What is associated with Elevated circulating medium-chain acylcarnitine concentration?", "seeds": [ "Elevated circulating medium-chain acylcarnitine concentration" ], "gold_answer": "Abnormal circulating fatty-acid anion concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10241", "question": "What is associated with Intermediate atrioventricular canal defect?", "seeds": [ "Intermediate atrioventricular canal defect" ], "gold_answer": "Atrioventricular canal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10242", "question": "What is associated with Knee joint effusion?", "seeds": [ "Knee joint effusion" ], "gold_answer": "Abnormality of the knee", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10243", "question": "What is associated with Very long chain acyl-CoA dehydrogenase deficiency?", "seeds": [ "Very long chain acyl-CoA dehydrogenase deficiency" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10244", "question": "What is associated with Autotopagnosia?", "seeds": [ "Autotopagnosia" ], "gold_answer": "Abnormal interpretation of external stimuli", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10245", "question": "What is associated with Onychauxis?", "seeds": [ "Onychauxis" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10246", "question": "What is associated with Decreased fibular diameter?", "seeds": [ "Decreased fibular diameter" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10247", "question": "What is associated with Anterior segment dysgenesis 8?", "seeds": [ "Anterior segment dysgenesis 8" ], "gold_answer": "Aplasia/Hypoplasia affecting the uvea", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10248", "question": "What is associated with Melanoma-Pancreatic cancer syndrome?", "seeds": [ "Melanoma-Pancreatic cancer syndrome" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10249", "question": "What is associated with Unbalanced atrioventricular canal defect?", "seeds": [ "Unbalanced atrioventricular canal defect" ], "gold_answer": "Abnormal cardiac septum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10250", "question": "What is associated with Cataract 15, multiple types?", "seeds": [ "Cataract 15, multiple types" ], "gold_answer": "Zonular cataract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10251", "question": "What is associated with Corner fracture of metaphysis?", "seeds": [ "Corner fracture of metaphysis" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10252", "question": "What is associated with Zebra body myopathy?", "seeds": [ "Zebra body myopathy" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10253", "question": "What is associated with Activated PI3K-delta syndrome?", "seeds": [ "Activated PI3K-delta syndrome" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10254", "question": "What is associated with Overfolded helix?", "seeds": [ "Overfolded helix" ], "gold_answer": "Abnormal helix morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10255", "question": "What is associated with Neurodevelopmental disorder with epilepsy and hemochromatosis?", "seeds": [ "Neurodevelopmental disorder with epilepsy and hemochromatosis" ], "gold_answer": "Action tremor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10256", "question": "What phenotype is associated with Primary myelofibrosis?", "seeds": [ "Primary myelofibrosis" ], "gold_answer": "Hepatomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10257", "question": "What is associated with Severe postnatal growth retardation?", "seeds": [ "Severe postnatal growth retardation" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10258", "question": "What is associated with Greenberg skeletal dysplasia?", "seeds": [ "Greenberg skeletal dysplasia" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10259", "question": "What is associated with Tricuspid valve prolapse?", "seeds": [ "Tricuspid valve prolapse" ], "gold_answer": "Abnormal atrioventricular valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10260", "question": "What is associated with Distally placed thumb?", "seeds": [ "Distally placed thumb" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10261", "question": "What phenotype is associated with Alpha-mannosidosis?", "seeds": [ "Alpha-mannosidosis" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10262", "question": "What is associated with Orthostatic hypotension 2?", "seeds": [ "Orthostatic hypotension 2" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10263", "question": "What is associated with Breath-holding spell?", "seeds": [ "Breath-holding spell" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10264", "question": "What is associated with Abnormal CD69 upregulation upon TCR activation?", "seeds": [ "Abnormal CD69 upregulation upon TCR activation" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10265", "question": "What is associated with Hepatic arteriovenous malformation?", "seeds": [ "Hepatic arteriovenous malformation" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10266", "question": "What is associated with Impaired glucose tolerance?", "seeds": [ "Impaired glucose tolerance" ], "gold_answer": "Glucose intolerance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10267", "question": "What is associated with Bowing of the legs?", "seeds": [ "Bowing of the legs" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10268", "question": "What is associated with Abnormality of the submandibular region?", "seeds": [ "Abnormality of the submandibular region" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10269", "question": "What is associated with Glomerular endocapillary neutrophil hypercellularity?", "seeds": [ "Glomerular endocapillary neutrophil hypercellularity" ], "gold_answer": "Abnormal glomerular capillary morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10270", "question": "What is associated with Reduced fetal femur/foot length ratio?", "seeds": [ "Reduced fetal femur/foot length ratio" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10271", "question": "What is associated with Metacarpal diaphyseal endosteal sclerosis?", "seeds": [ "Metacarpal diaphyseal endosteal sclerosis" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10272", "question": "What is associated with Pemphigus vulgaris?", "seeds": [ "Pemphigus vulgaris" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10273", "question": "What is associated with Bilateral triphalangeal thumbs?", "seeds": [ "Bilateral triphalangeal thumbs" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10274", "question": "What is associated with Caudal appendage?", "seeds": [ "Caudal appendage" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10275", "question": "What phenotype is associated with 3p25.3 microdeletion syndrome?", "seeds": [ "3p25.3 microdeletion syndrome" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10276", "question": "What is associated with Abnormal humeral metaphysis morphology?", "seeds": [ "Abnormal humeral metaphysis morphology" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10277", "question": "What is associated with Osteogenesis imperfecta, type XIX?", "seeds": [ "Osteogenesis imperfecta, type XIX" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10278", "question": "What is associated with Ivory epiphysis of the proximal phalanx of the 3rd finger?", "seeds": [ "Ivory epiphysis of the proximal phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10279", "question": "What phenotype is associated with Porencephaly?", "seeds": [ "Porencephaly" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10280", "question": "What is associated with Rhabdoid tumor of the kidney?", "seeds": [ "Rhabdoid tumor of the kidney" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10281", "question": "What is associated with Hereditary spherocytosis?", "seeds": [ "Hereditary spherocytosis" ], "gold_answer": "Abnormal mean corpuscular hemoglobin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10282", "question": "What is associated with Abnormal external nose morphology?", "seeds": [ "Abnormal external nose morphology" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10283", "question": "What is associated with Anti-NMDA receptor antibody positivity?", "seeds": [ "Anti-NMDA receptor antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10284", "question": "What is associated with Cotard delusion?", "seeds": [ "Cotard delusion" ], "gold_answer": "Delusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10285", "question": "What is associated with Anti-phosphatidyl serine antibody positivity?", "seeds": [ "Anti-phosphatidyl serine antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10286", "question": "What is associated with Increased fetal long bone echogenicity?", "seeds": [ "Increased fetal long bone echogenicity" ], "gold_answer": "Abnormal fetal long-bone echogenicity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10287", "question": "What is associated with Aquagenic urticaria?", "seeds": [ "Aquagenic urticaria" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10288", "question": "What is associated with Absent lanugo?", "seeds": [ "Absent lanugo" ], "gold_answer": "Abnormal fetal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10289", "question": "What is associated with Abnormal sixth cranial nerve morphology?", "seeds": [ "Abnormal sixth cranial nerve morphology" ], "gold_answer": "Abnormal cranial nerve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10290", "question": "What phenotype is associated with Impacted teeth, multiple?", "seeds": [ "Impacted teeth, multiple" ], "gold_answer": "Supernumerary tooth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10291", "question": "What is associated with Decreased urinary neopterin level?", "seeds": [ "Decreased urinary neopterin level" ], "gold_answer": "Abnormal urinary nitrogen compound level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10292", "question": "What is associated with Ocular pterygium-digital keloid dysplasia syndrome?", "seeds": [ "Ocular pterygium-digital keloid dysplasia syndrome" ], "gold_answer": "Soft tissue sarcoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10293", "question": "What is associated with Ventricular arrhythmia?", "seeds": [ "Ventricular arrhythmia" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10294", "question": "What is associated with Aplasia/Hypoplasia of the phalanges of the 4th finger?", "seeds": [ "Aplasia/Hypoplasia of the phalanges of the 4th finger" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10295", "question": "What is associated with Decreased RTE CD4+ T cell proportion?", "seeds": [ "Decreased RTE CD4+ T cell proportion" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10296", "question": "What is associated with Abnormally shaped carpal bones?", "seeds": [ "Abnormally shaped carpal bones" ], "gold_answer": "Abnormal wrist morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10297", "question": "What is associated with Uncombable hair syndrome 1?", "seeds": [ "Uncombable hair syndrome 1" ], "gold_answer": "Abnormality of hair texture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10298", "question": "What is associated with Triangular epiphyses of the 4th toe?", "seeds": [ "Triangular epiphyses of the 4th toe" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10299", "question": "What is associated with Hypergranulosis?", "seeds": [ "Hypergranulosis" ], "gold_answer": "Epidermal thickening", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10300", "question": "What is associated with L-Arginine:glycine amidinotransferase deficiency?", "seeds": [ "L-Arginine:glycine amidinotransferase deficiency" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10301", "question": "What is associated with Melanoma-Pancreatic cancer syndrome?", "seeds": [ "Melanoma-Pancreatic cancer syndrome" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10302", "question": "What is associated with Aplasia of the phalanges of the hallux?", "seeds": [ "Aplasia of the phalanges of the hallux" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10303", "question": "What is associated with Meleda disease?", "seeds": [ "Meleda disease" ], "gold_answer": "Abnormality of skin adnexa physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10304", "question": "What is associated with Increased red cell osmotic resistance?", "seeds": [ "Increased red cell osmotic resistance" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10305", "question": "What is associated with Impaired transferring ability?", "seeds": [ "Impaired transferring ability" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10306", "question": "What is associated with Focal hemiclonic seizure?", "seeds": [ "Focal hemiclonic seizure" ], "gold_answer": "Focal clonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10307", "question": "What is associated with Large cafe-au-lait macules with irregular margins?", "seeds": [ "Large cafe-au-lait macules with irregular margins" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10308", "question": "What is associated with Severe platyspondyly?", "seeds": [ "Severe platyspondyly" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10309", "question": "What is associated with Distal radioulnar joint space widening?", "seeds": [ "Distal radioulnar joint space widening" ], "gold_answer": "Abnormal forearm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10310", "question": "What phenotype is associated with Focal segmental glomerulosclerosis and neurodevelopmental syndrome?", "seeds": [ "Focal segmental glomerulosclerosis and neurodevelopmental syndrome" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10311", "question": "What is associated with Hyperglycerolemia?", "seeds": [ "Hyperglycerolemia" ], "gold_answer": "Abnormal circulating carbohydrate concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10312", "question": "What is associated with Abnormal fifth cranial nerve physiology?", "seeds": [ "Abnormal fifth cranial nerve physiology" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10313", "question": "What phenotype is associated with Complement component 8 deficiency, type I?", "seeds": [ "Complement component 8 deficiency, type I" ], "gold_answer": "Retinopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10314", "question": "What is associated with Decreased HLA DR+ CD8+ T cell proportion?", "seeds": [ "Decreased HLA DR+ CD8+ T cell proportion" ], "gold_answer": "Abnormal HLA DR+ CD8+ T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10315", "question": "What phenotype is associated with Teeth, odd shapes oflobodontia, included?", "seeds": [ "Teeth, odd shapes oflobodontia, included" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10316", "question": "What is associated with Tube feeding?", "seeds": [ "Tube feeding" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10317", "question": "What is associated with Hypoglycemia of infancy, leucine-sensitive?", "seeds": [ "Hypoglycemia of infancy, leucine-sensitive" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10318", "question": "What phenotype is associated with Deafness, X-linked 4?", "seeds": [ "Deafness, X-linked 4" ], "gold_answer": "High-frequency hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10319", "question": "What is associated with Lymphangiosarcoma?", "seeds": [ "Lymphangiosarcoma" ], "gold_answer": "Vascular neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10320", "question": "What is associated with Evans syndrome?", "seeds": [ "Evans syndrome" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10321", "question": "What is associated with History of gastric bypass surgery?", "seeds": [ "History of gastric bypass surgery" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10322", "question": "What is associated with Mitochondrial complex IV deficiency, nuclear type 20?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 20" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10323", "question": "What is associated with Mismatch repair cancer syndrome 3?", "seeds": [ "Mismatch repair cancer syndrome 3" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10324", "question": "What is associated with Absent cupid's bow?", "seeds": [ "Absent cupid's bow" ], "gold_answer": "Abnormality of upper lip vermillion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10325", "question": "What is associated with Dystonia with cerebellar atrophy?", "seeds": [ "Dystonia with cerebellar atrophy" ], "gold_answer": "Abnormal esophagus physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10326", "question": "What is associated with Abnormal circulating thyroglobulin concentration?", "seeds": [ "Abnormal circulating thyroglobulin concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10327", "question": "What is associated with Silent hypoxemia?", "seeds": [ "Silent hypoxemia" ], "gold_answer": "Hypoxemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10328", "question": "What is associated with Parkinson disease 14, autosomal recessive?", "seeds": [ "Parkinson disease 14, autosomal recessive" ], "gold_answer": "DAO", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10329", "question": "What is associated with Abnormal CSF guanidinoacetic acid concentration?", "seeds": [ "Abnormal CSF guanidinoacetic acid concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10330", "question": "What is associated with Increased circulating cortisol level?", "seeds": [ "Increased circulating cortisol level" ], "gold_answer": "Abnormality of adrenal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10331", "question": "What is associated with Eosinophilic pneumonia?", "seeds": [ "Eosinophilic pneumonia" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10332", "question": "What is associated with Autoimmune limbic encephalitis?", "seeds": [ "Autoimmune limbic encephalitis" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10333", "question": "What is associated with Positive norpropoxyphene blood test?", "seeds": [ "Positive norpropoxyphene blood test" ], "gold_answer": "Blood xenobiotic", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10334", "question": "What phenotype is associated with Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome?", "seeds": [ "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome" ], "gold_answer": "Micropenis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10335", "question": "What is associated with Asthma?", "seeds": [ "Asthma" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10336", "question": "What is associated with Nephroblastomatosis?", "seeds": [ "Nephroblastomatosis" ], "gold_answer": "Renal neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10337", "question": "What is associated with Anti-NMDA receptor antibody positivity?", "seeds": [ "Anti-NMDA receptor antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10338", "question": "What is associated with Atypical mycobacteriosis, familial, X-linked 2?", "seeds": [ "Atypical mycobacteriosis, familial, X-linked 2" ], "gold_answer": "Recurrent bacterial infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10339", "question": "What is associated with Reticular dysgenesia?", "seeds": [ "Reticular dysgenesia" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10340", "question": "What phenotype is associated with Microtia, first degree?", "seeds": [ "Microtia, first degree" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10341", "question": "What phenotype is associated with Congenital heart defects, multiple types, 3?", "seeds": [ "Congenital heart defects, multiple types, 3" ], "gold_answer": "Tachycardia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10342", "question": "What is associated with Lymphadenopathy?", "seeds": [ "Lymphadenopathy" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10343", "question": "What is associated with Immunodeficiency, common variable, 15?", "seeds": [ "Immunodeficiency, common variable, 15" ], "gold_answer": "Abnormality of the tonsils", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10344", "question": "What is associated with Grandiosity?", "seeds": [ "Grandiosity" ], "gold_answer": "Abnormal preoccupation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10345", "question": "What is associated with Joint swelling?", "seeds": [ "Joint swelling" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10346", "question": "What is associated with MHC class II deficiency 2?", "seeds": [ "MHC class II deficiency 2" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10347", "question": "What is associated with Absent proximal phalanx of the 3rd toe?", "seeds": [ "Absent proximal phalanx of the 3rd toe" ], "gold_answer": "Abnormal morphology of the proximal phalanx of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10348", "question": "What is associated with Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant?", "seeds": [ "Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" ], "gold_answer": "Abnormal dental root morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10349", "question": "What is associated with Wide penis?", "seeds": [ "Wide penis" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10350", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 64?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 64" ], "gold_answer": "Slurred speech", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10351", "question": "What is associated with Aplasia/Hypoplasia of the pancreas?", "seeds": [ "Aplasia/Hypoplasia of the pancreas" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10352", "question": "What is associated with Transposition of the great arteries?", "seeds": [ "Transposition of the great arteries" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10353", "question": "What phenotype is associated with Dyskeratosis congenita, autosomal recessive 1?", "seeds": [ "Dyskeratosis congenita, autosomal recessive 1" ], "gold_answer": "Pancytopenia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10354", "question": "What is associated with Atrioventricular septal defect 4?", "seeds": [ "Atrioventricular septal defect 4" ], "gold_answer": "Abnormal atrial septum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10355", "question": "What is associated with Abnormal common tendinous ring morphology?", "seeds": [ "Abnormal common tendinous ring morphology" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10356", "question": "What is associated with Chronic lymphoproliferative disorder of natural killer cells?", "seeds": [ "Chronic lymphoproliferative disorder of natural killer cells" ], "gold_answer": "STAT3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10357", "question": "What is associated with Posterior mediastinal mass?", "seeds": [ "Posterior mediastinal mass" ], "gold_answer": "Mediastinal mass", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10358", "question": "What is associated with Myopathy, congenital, with fiber-type disproportion?", "seeds": [ "Myopathy, congenital, with fiber-type disproportion" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10359", "question": "What is associated with Phacoanaphylactic uveitis?", "seeds": [ "Phacoanaphylactic uveitis" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10360", "question": "What is associated with Autism with high cognitive abilities?", "seeds": [ "Autism with high cognitive abilities" ], "gold_answer": "Autistic behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10361", "question": "What is associated with Fanconi anemia, complementation group D1?", "seeds": [ "Fanconi anemia, complementation group D1" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10362", "question": "What is associated with Epilepsy, nocturnal frontal lobe, type 1?", "seeds": [ "Epilepsy, nocturnal frontal lobe, type 1" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10363", "question": "What phenotype is associated with Leukoencephalopathy, porphyria-related?", "seeds": [ "Leukoencephalopathy, porphyria-related" ], "gold_answer": "Sensorimotor neuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10364", "question": "What phenotype is associated with Retinitis pigmentosa 4?", "seeds": [ "Retinitis pigmentosa 4" ], "gold_answer": "Pigmentary retinopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10365", "question": "What is associated with Abnormal scaphoid morphology?", "seeds": [ "Abnormal scaphoid morphology" ], "gold_answer": "Abnormal wrist morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10366", "question": "What is associated with Flattened metatarsal heads?", "seeds": [ "Flattened metatarsal heads" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10367", "question": "What is associated with Neurodevelopmental disorder with dystonia and seizures?", "seeds": [ "Neurodevelopmental disorder with dystonia and seizures" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10368", "question": "What is associated with Abnormal circulating carnitine concentration?", "seeds": [ "Abnormal circulating carnitine concentration" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10369", "question": "What is associated with Square humeral metaphysis?", "seeds": [ "Square humeral metaphysis" ], "gold_answer": "Abnormal upper limb metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10370", "question": "What phenotype is associated with Hypermethioninemia due to adenosine kinase deficiency?", "seeds": [ "Hypermethioninemia due to adenosine kinase deficiency" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10371", "question": "What is associated with Waardenburg syndrome type 2?", "seeds": [ "Waardenburg syndrome type 2" ], "gold_answer": "Abnormal enteric ganglion morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10372", "question": "What is associated with Best corrected visual acuity 0.5 LogMAR?", "seeds": [ "Best corrected visual acuity 0.5 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10373", "question": "What is associated with Familial isolated hypoparathyroidism due to agenesis of parathyroid gland?", "seeds": [ "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland" ], "gold_answer": "Abnormal magnesium concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10374", "question": "What is associated with Neuromuscular dysphagia?", "seeds": [ "Neuromuscular dysphagia" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10375", "question": "What is associated with Clumping of lymph node lymphocyte chromatin?", "seeds": [ "Clumping of lymph node lymphocyte chromatin" ], "gold_answer": "Abnormal lymph-node lymphoctye nuclear morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10376", "question": "What is associated with Cone dystrophy 3?", "seeds": [ "Cone dystrophy 3" ], "gold_answer": "Sensory behavioral abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10377", "question": "What is associated with Pulmonary hypertension, primary, 2?", "seeds": [ "Pulmonary hypertension, primary, 2" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10378", "question": "What is associated with Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test?", "seeds": [ "Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test" ], "gold_answer": "Positive respiratory tract nucleic acid pathogen test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10379", "question": "What phenotype is associated with Spermatogenic failure 44?", "seeds": [ "Spermatogenic failure 44" ], "gold_answer": "Male infertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10380", "question": "What is associated with Lymphangioleiomyomatosis?", "seeds": [ "Lymphangioleiomyomatosis" ], "gold_answer": "Neoplasm of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10381", "question": "What is associated with Infantile systemic hyalinosis?", "seeds": [ "Infantile systemic hyalinosis" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10382", "question": "What is associated with Abnormal nonverbal communicative behavior?", "seeds": [ "Abnormal nonverbal communicative behavior" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10383", "question": "What is associated with Microscopic hematuria?", "seeds": [ "Microscopic hematuria" ], "gold_answer": "Abnormal urine cytology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10384", "question": "What is associated with Myelodysplasia?", "seeds": [ "Myelodysplasia" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10385", "question": "What is associated with Decreased circulating vitamin C concentration?", "seeds": [ "Decreased circulating vitamin C concentration" ], "gold_answer": "Abnormality of vitamin C metabolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10386", "question": "What is associated with ALG13-CDG?", "seeds": [ "ALG13-CDG" ], "gold_answer": "EEG with generalized epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10387", "question": "What is associated with Reduced social responsiveness?", "seeds": [ "Reduced social responsiveness" ], "gold_answer": "Abnormal social development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10388", "question": "What is associated with Sloping radial epiphyses?", "seeds": [ "Sloping radial epiphyses" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10389", "question": "What is associated with Brain malformation renal syndrome?", "seeds": [ "Brain malformation renal syndrome" ], "gold_answer": "Glaucoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10390", "question": "What is associated with Elevated brain creatine level by MRS?", "seeds": [ "Elevated brain creatine level by MRS" ], "gold_answer": "Brain imaging abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10391", "question": "What is associated with Neurenteric cyst?", "seeds": [ "Neurenteric cyst" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10392", "question": "What is associated with Congenital bilateral ptosis?", "seeds": [ "Congenital bilateral ptosis" ], "gold_answer": "Bilateral ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10393", "question": "What phenotype is associated with Immunodeficiency 134 (Epstein-Barr virus-specific)?", "seeds": [ "Immunodeficiency 134 (Epstein-Barr virus-specific)" ], "gold_answer": "Pharyngalgia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10394", "question": "What is associated with Acheiropody?", "seeds": [ "Acheiropody" ], "gold_answer": "Abnormal forearm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10395", "question": "What is associated with Abnormal motor nerve conduction velocity?", "seeds": [ "Abnormal motor nerve conduction velocity" ], "gold_answer": "Abnormality of peripheral nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10396", "question": "What is associated with Decreased circulating carboxypeptidase N activity?", "seeds": [ "Decreased circulating carboxypeptidase N activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10397", "question": "What is associated with Elevated serum acid phosphatase?", "seeds": [ "Elevated serum acid phosphatase" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10398", "question": "What is associated with Abnormal circulating IgD concentration?", "seeds": [ "Abnormal circulating IgD concentration" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10399", "question": "What is associated with Eccrine syringofibroadenoma?", "seeds": [ "Eccrine syringofibroadenoma" ], "gold_answer": "Neoplasm of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10400", "question": "What is associated with Decreased CSF glutamine concentration?", "seeds": [ "Decreased CSF glutamine concentration" ], "gold_answer": "Abnormal CSF glutamine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10401", "question": "What is associated with Mitochondrial complex III deficiency, nuclear type 2?", "seeds": [ "Mitochondrial complex III deficiency, nuclear type 2" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10402", "question": "What is associated with Spherocytosis, type 2?", "seeds": [ "Spherocytosis, type 2" ], "gold_answer": "Anemia due to reduced life span of red cells", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10403", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2D?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2D" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10404", "question": "What is associated with Beemer-Ertbruggen syndrome?", "seeds": [ "Beemer-Ertbruggen syndrome" ], "gold_answer": "Abnormality of the philtrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10405", "question": "What is associated with Microcephaly 26, primary, autosomal dominant?", "seeds": [ "Microcephaly 26, primary, autosomal dominant" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10406", "question": "What is associated with Abnormal pulmonary vein physiology?", "seeds": [ "Abnormal pulmonary vein physiology" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10407", "question": "What is associated with Dull?", "seeds": [ "Dull" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10408", "question": "What is associated with Osteochondromyxoma?", "seeds": [ "Osteochondromyxoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10409", "question": "What is associated with Follicular lymphoma?", "seeds": [ "Follicular lymphoma" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10410", "question": "What is associated with Abnormal muscle succinate dehydrogenase staining?", "seeds": [ "Abnormal muscle succinate dehydrogenase staining" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10411", "question": "What is associated with Abnormal neck physiology?", "seeds": [ "Abnormal neck physiology" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10412", "question": "What is associated with Lymph-node capsular invasion by lymphocytes?", "seeds": [ "Lymph-node capsular invasion by lymphocytes" ], "gold_answer": "Abnormal lymph-node tissue architecture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10413", "question": "What phenotype is associated with DIASTEMATOMYELIA?", "seeds": [ "DIASTEMATOMYELIA" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10414", "question": "What is associated with Perseverative thought?", "seeds": [ "Perseverative thought" ], "gold_answer": "Abnormal cognitive process", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10415", "question": "What is associated with Pulmonary carcinoid tumor?", "seeds": [ "Pulmonary carcinoid tumor" ], "gold_answer": "Carcinoid tumor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10416", "question": "What is associated with Metaphyseal spurs?", "seeds": [ "Metaphyseal spurs" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10417", "question": "What is associated with EMG: axonal abnormality?", "seeds": [ "EMG: axonal abnormality" ], "gold_answer": "EMG abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10418", "question": "What is associated with Cortical radial artery intraluminal thrombi?", "seeds": [ "Cortical radial artery intraluminal thrombi" ], "gold_answer": "Abnormal cortical radial artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10419", "question": "What is associated with Omphalocele?", "seeds": [ "Omphalocele" ], "gold_answer": "Abnormal abdominal wall morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10420", "question": "What is associated with Hypodontia?", "seeds": [ "Hypodontia" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10421", "question": "What is associated with Severe influenza infection?", "seeds": [ "Severe influenza infection" ], "gold_answer": "Severe infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10422", "question": "What is associated with Oculocutaneous albinism type 1A?", "seeds": [ "Oculocutaneous albinism type 1A" ], "gold_answer": "Generalized hypopigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10423", "question": "What is associated with Straight clavicles?", "seeds": [ "Straight clavicles" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10424", "question": "What is associated with Elevated circulating C-terminal fibroblast growth factor 23 concentration?", "seeds": [ "Elevated circulating C-terminal fibroblast growth factor 23 concentration" ], "gold_answer": "Abnormal circulating fibroblast growth factor 23 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10425", "question": "What phenotype is associated with KINSSHIP syndrome?", "seeds": [ "KINSSHIP syndrome" ], "gold_answer": "Polydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10426", "question": "What is associated with Renal cortical necrosis?", "seeds": [ "Renal cortical necrosis" ], "gold_answer": "Abnormal renal cortex morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10427", "question": "What is associated with Abnormal cortical radial artery endothelium morphology?", "seeds": [ "Abnormal cortical radial artery endothelium morphology" ], "gold_answer": "Abnormal intrarenal artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10428", "question": "What is associated with Partial duplication of phalanx of the 2nd toe?", "seeds": [ "Partial duplication of phalanx of the 2nd toe" ], "gold_answer": "Abnormal 2nd toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10429", "question": "What is associated with Pontocerebellar hypoplasia type 3?", "seeds": [ "Pontocerebellar hypoplasia type 3" ], "gold_answer": "PCLO", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10430", "question": "What is associated with Contracture of the proximal interphalangeal joint of the 4th toe?", "seeds": [ "Contracture of the proximal interphalangeal joint of the 4th toe" ], "gold_answer": "Toe joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10431", "question": "What phenotype is associated with Atelosteogenesis, type III?", "seeds": [ "Atelosteogenesis, type III" ], "gold_answer": "Widened distal phalanges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10432", "question": "What is associated with Fragmentation of the epiphysis of the 1st metacarpal?", "seeds": [ "Fragmentation of the epiphysis of the 1st metacarpal" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10433", "question": "What phenotype is associated with Agammaglobulinemia 9, autosomal recessive?", "seeds": [ "Agammaglobulinemia 9, autosomal recessive" ], "gold_answer": "Absent circulating B cells", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10434", "question": "What is associated with Delayed eruption of primary teeth?", "seeds": [ "Delayed eruption of primary teeth" ], "gold_answer": "Delayed eruption of teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10435", "question": "What is associated with Abnormality of tumor necrosis factor secretion?", "seeds": [ "Abnormality of tumor necrosis factor secretion" ], "gold_answer": "Abnormality of cytokine secretion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10436", "question": "What is associated with Basilar impression, primary?", "seeds": [ "Basilar impression, primary" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10437", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 76?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 76" ], "gold_answer": "Renal insufficiency", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10438", "question": "What is associated with Low intraocular pressure?", "seeds": [ "Low intraocular pressure" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10439", "question": "What is associated with Supernumerary vertebrae?", "seeds": [ "Supernumerary vertebrae" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10440", "question": "What is associated with Morbus Kienboeck?", "seeds": [ "Morbus Kienboeck" ], "gold_answer": "Avascular necrosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10441", "question": "What is associated with Parathyroid carcinoma?", "seeds": [ "Parathyroid carcinoma" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10442", "question": "What is associated with Hypoplastic cervical vertebrae?", "seeds": [ "Hypoplastic cervical vertebrae" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10443", "question": "What phenotype is associated with Arthrogryposis multiplex congenita 3, myogenic type?", "seeds": [ "Arthrogryposis multiplex congenita 3, myogenic type" ], "gold_answer": "Talipes equinovarus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10444", "question": "What is associated with Posterior embryotoxon?", "seeds": [ "Posterior embryotoxon" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10445", "question": "What is associated with Microspherocytosis?", "seeds": [ "Microspherocytosis" ], "gold_answer": "Poikilocytosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10446", "question": "What phenotype is associated with Lowe-Kohn-Cohen syndrome?", "seeds": [ "Lowe-Kohn-Cohen syndrome" ], "gold_answer": "Anal atresia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10447", "question": "What is associated with Abnormal ocular alignment?", "seeds": [ "Abnormal ocular alignment" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10448", "question": "What is associated with Brain stem compression?", "seeds": [ "Brain stem compression" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10449", "question": "What is associated with 4-layered lissencephaly?", "seeds": [ "4-layered lissencephaly" ], "gold_answer": "Lissencephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10450", "question": "What is associated with Enlarged epiphyses of the 3rd finger?", "seeds": [ "Enlarged epiphyses of the 3rd finger" ], "gold_answer": "Enlarged epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10451", "question": "What is associated with Retinitis pigmentosa 83?", "seeds": [ "Retinitis pigmentosa 83" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10452", "question": "What is associated with Intranuclear cardiomyocyte mitochondria?", "seeds": [ "Intranuclear cardiomyocyte mitochondria" ], "gold_answer": "Abnormal cardiomyocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10453", "question": "What is associated with Episodic quadriplegia?", "seeds": [ "Episodic quadriplegia" ], "gold_answer": "Weakness due to upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10454", "question": "What is associated with Limited repertoire of facial expression?", "seeds": [ "Limited repertoire of facial expression" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10455", "question": "What is associated with Prominent calcaneus?", "seeds": [ "Prominent calcaneus" ], "gold_answer": "Abnormality of the calcaneus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10456", "question": "What phenotype is associated with Phosphoenolpyruvate carboxykinase 2, mitochondrial?", "seeds": [ "Phosphoenolpyruvate carboxykinase 2, mitochondrial" ], "gold_answer": "Hepatic steatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10457", "question": "What phenotype is associated with Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis?", "seeds": [ "Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis" ], "gold_answer": "Hyposthenuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10458", "question": "What is associated with Reticular dystrophy of the retinal pigment epithelium?", "seeds": [ "Reticular dystrophy of the retinal pigment epithelium" ], "gold_answer": "RCBTB1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10459", "question": "What is associated with Trichothiodystrophy 4, nonphotosensitive?", "seeds": [ "Trichothiodystrophy 4, nonphotosensitive" ], "gold_answer": "Agenesis of corpus callosum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10460", "question": "What is associated with Generalized clonic seizure?", "seeds": [ "Generalized clonic seizure" ], "gold_answer": "Generalized-onset seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10461", "question": "What is associated with Hemoglobin-Delta locus?", "seeds": [ "Hemoglobin-Delta locus" ], "gold_answer": "Abnormal hemoglobin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10462", "question": "What is associated with Abnormal urinary sulfate concentration?", "seeds": [ "Abnormal urinary sulfate concentration" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10463", "question": "What is associated with Macular agenesis?", "seeds": [ "Macular agenesis" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10464", "question": "What is associated with Kyrle disease?", "seeds": [ "Kyrle disease" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10465", "question": "What is associated with Charcot-Marie-Tooth disease, X-linked recessive, 3?", "seeds": [ "Charcot-Marie-Tooth disease, X-linked recessive, 3" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10466", "question": "What is associated with Thickened tibial cortex?", "seeds": [ "Thickened tibial cortex" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10467", "question": "What is associated with Hereditary spherocytosis?", "seeds": [ "Hereditary spherocytosis" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10468", "question": "What is associated with Abnormal circulating isoleucine concentration?", "seeds": [ "Abnormal circulating isoleucine concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10469", "question": "What is associated with Thickened cortex of the clavicle?", "seeds": [ "Thickened cortex of the clavicle" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10470", "question": "What is associated with Duplication of the middle phalanx of the 5th toe?", "seeds": [ "Duplication of the middle phalanx of the 5th toe" ], "gold_answer": "Abnormality of the middle phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10471", "question": "What is associated with Acromegaloid facial appearance syndrome?", "seeds": [ "Acromegaloid facial appearance syndrome" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10472", "question": "What is associated with Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease?", "seeds": [ "Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease" ], "gold_answer": "Paraparesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10473", "question": "What is associated with Osteolytic defects of the proximal phalanx of the 3rd finger?", "seeds": [ "Osteolytic defects of the proximal phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the proximal phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10474", "question": "What is associated with Excessive checking?", "seeds": [ "Excessive checking" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10475", "question": "What is associated with Sick sinus syndrome 4?", "seeds": [ "Sick sinus syndrome 4" ], "gold_answer": "Cardiac arrest", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10476", "question": "What is associated with Bleeding disorder, platelet-type, 16?", "seeds": [ "Bleeding disorder, platelet-type, 16" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10477", "question": "What is associated with Accessory oral frenulum?", "seeds": [ "Accessory oral frenulum" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10478", "question": "What is associated with Parathyroid dysgenesis?", "seeds": [ "Parathyroid dysgenesis" ], "gold_answer": "Abnormal parathyroid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10479", "question": "What is associated with Absent ray?", "seeds": [ "Absent ray" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10480", "question": "What is associated with Spermatogenic failure 10?", "seeds": [ "Spermatogenic failure 10" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10481", "question": "What is associated with Adult onset?", "seeds": [ "Adult onset" ], "gold_answer": "Onset", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10482", "question": "What is associated with Delayed brainstem auditory evoked response conduction time?", "seeds": [ "Delayed brainstem auditory evoked response conduction time" ], "gold_answer": "Abnormal auditory evoked potentials", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10483", "question": "What is associated with Glomerular proteinuria?", "seeds": [ "Glomerular proteinuria" ], "gold_answer": "Proteinuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10484", "question": "What is associated with Unusual protozoan infection?", "seeds": [ "Unusual protozoan infection" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10485", "question": "What is associated with Upper limb phocomelia?", "seeds": [ "Upper limb phocomelia" ], "gold_answer": "Aplasia/hypoplasia involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10486", "question": "What is associated with Left ventricular noncompaction 8?", "seeds": [ "Left ventricular noncompaction 8" ], "gold_answer": "Abnormal morphology of myocardial trabeculae", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10487", "question": "What is associated with Limited elbow flexion?", "seeds": [ "Limited elbow flexion" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10488", "question": "What phenotype is associated with Cholangiocarcinoma?", "seeds": [ "Cholangiocarcinoma" ], "gold_answer": "Acholic stools", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10489", "question": "What is associated with Palmoplantar keratoderma, epidermolytic?", "seeds": [ "Palmoplantar keratoderma, epidermolytic" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10490", "question": "What phenotype is associated with Retinitis pigmentosa 36?", "seeds": [ "Retinitis pigmentosa 36" ], "gold_answer": "Macular degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10491", "question": "What is associated with Congenital disorder of glycosylation, type Iip?", "seeds": [ "Congenital disorder of glycosylation, type Iip" ], "gold_answer": "Abnormal abdomen morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10492", "question": "What is associated with Abnormal fibular epiphysis morphology?", "seeds": [ "Abnormal fibular epiphysis morphology" ], "gold_answer": "Abnormal limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10493", "question": "What is associated with Ivory epiphyses?", "seeds": [ "Ivory epiphyses" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10494", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10495", "question": "What is associated with Focal impaired awareness motor seizure with paresis/paralysis?", "seeds": [ "Focal impaired awareness motor seizure with paresis/paralysis" ], "gold_answer": "Focal motor seizure with paresis/paralysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10496", "question": "What is associated with Open fracture?", "seeds": [ "Open fracture" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10497", "question": "What is associated with Hyperkalemia?", "seeds": [ "Hyperkalemia" ], "gold_answer": "Abnormal blood monovalent inorganic cation concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10498", "question": "What is associated with Flat face-microstomia-ear anomaly syndrome?", "seeds": [ "Flat face-microstomia-ear anomaly syndrome" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10499", "question": "What is associated with Reduced anterior scleral thickness?", "seeds": [ "Reduced anterior scleral thickness" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10500", "question": "What is associated with Neoplasm of the peripheral nervous system?", "seeds": [ "Neoplasm of the peripheral nervous system" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10501", "question": "What is associated with Enlarged sagittal diameter of the cervical canal?", "seeds": [ "Enlarged sagittal diameter of the cervical canal" ], "gold_answer": "Abnormality of the cervical spine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10502", "question": "What is associated with Telangiectasia, hereditary hemorrhagic, type 5?", "seeds": [ "Telangiectasia, hereditary hemorrhagic, type 5" ], "gold_answer": "Epistaxis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10503", "question": "What is associated with Podocyte foot process effacement?", "seeds": [ "Podocyte foot process effacement" ], "gold_answer": "Abnormal glomerular visceral epithelial cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10504", "question": "What is associated with Hereditary mixed polyposis syndrome?", "seeds": [ "Hereditary mixed polyposis syndrome" ], "gold_answer": "Intestinal polyposis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10505", "question": "What is associated with Von Willebrand disease?", "seeds": [ "Von Willebrand disease" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10506", "question": "What phenotype is associated with Short stature-wormian bones-dextrocardia syndrome?", "seeds": [ "Short stature-wormian bones-dextrocardia syndrome" ], "gold_answer": "Anemic pallor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10507", "question": "What is associated with Caseous vernix-like desquamation?", "seeds": [ "Caseous vernix-like desquamation" ], "gold_answer": "Abnormal fetal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10508", "question": "What is associated with Polyembryoma?", "seeds": [ "Polyembryoma" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10509", "question": "What is associated with Dark cerumen?", "seeds": [ "Dark cerumen" ], "gold_answer": "Abnormal auditory canal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10510", "question": "What is associated with Absent nares?", "seeds": [ "Absent nares" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10511", "question": "What is associated with Decreased glucose-6-phosphate dehydrogenase level in tissue?", "seeds": [ "Decreased glucose-6-phosphate dehydrogenase level in tissue" ], "gold_answer": "Abnormal glucose-6-phosphate dehydrogenase level in tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10512", "question": "What is associated with Impairment of galactose metabolism?", "seeds": [ "Impairment of galactose metabolism" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10513", "question": "What is associated with Body odor?", "seeds": [ "Body odor" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10514", "question": "What is associated with Abnormal CSF protein concentration?", "seeds": [ "Abnormal CSF protein concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10515", "question": "What is associated with Cardiac polyglucosan accumulation?", "seeds": [ "Cardiac polyglucosan accumulation" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10516", "question": "What is associated with Ameliorated by nitroglycerin?", "seeds": [ "Ameliorated by nitroglycerin" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10517", "question": "What is associated with Abnormal vaginal physiology?", "seeds": [ "Abnormal vaginal physiology" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10518", "question": "What is associated with Neurocutaneous melanocytosis?", "seeds": [ "Neurocutaneous melanocytosis" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10519", "question": "What is associated with Colon cancer?", "seeds": [ "Colon cancer" ], "gold_answer": "Neoplasm of the colon", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10520", "question": "What phenotype is associated with Meckel syndrome, type 9?", "seeds": [ "Meckel syndrome, type 9" ], "gold_answer": "Occipital encephalocele", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10521", "question": "What is associated with Pancreatic cysts?", "seeds": [ "Pancreatic cysts" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10522", "question": "What phenotype is associated with Complement component 8 deficiency, type I?", "seeds": [ "Complement component 8 deficiency, type I" ], "gold_answer": "Weight loss", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10523", "question": "What is associated with Fundus dystrophy, pseudoinflammatory, recessive form?", "seeds": [ "Fundus dystrophy, pseudoinflammatory, recessive form" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10524", "question": "What is associated with Pelizaeus-Merzbacher-like disease?", "seeds": [ "Pelizaeus-Merzbacher-like disease" ], "gold_answer": "MAL", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10525", "question": "What is associated with Leber congenital amaurosis 14?", "seeds": [ "Leber congenital amaurosis 14" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10526", "question": "What is associated with Cystinosis, late-onset juvenile or adolescent nephropathic?", "seeds": [ "Cystinosis, late-onset juvenile or adolescent nephropathic" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10527", "question": "What is associated with Pontocerebellar hypoplasia, type 2E?", "seeds": [ "Pontocerebellar hypoplasia, type 2E" ], "gold_answer": "Joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10528", "question": "What is associated with Allergic bronchopulmonary aspergillosis?", "seeds": [ "Allergic bronchopulmonary aspergillosis" ], "gold_answer": "Pre-capillary pulmonary hypertension", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10529", "question": "What is associated with MELAS?", "seeds": [ "MELAS" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10530", "question": "What is associated with Curved proximal phalanges of the hand?", "seeds": [ "Curved proximal phalanges of the hand" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10531", "question": "What is associated with Metatarsus adductus?", "seeds": [ "Metatarsus adductus" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10532", "question": "What is associated with Atherosclerosis?", "seeds": [ "Atherosclerosis" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10533", "question": "What is associated with Small epiphysis of the middle phalanx of the 5th finger?", "seeds": [ "Small epiphysis of the middle phalanx of the 5th finger" ], "gold_answer": "Abnormal 5th finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10534", "question": "What is associated with Short humerus?", "seeds": [ "Short humerus" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10535", "question": "What is associated with Abnormality of the distal phalanx of the 4th toe?", "seeds": [ "Abnormality of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10536", "question": "What is associated with Abnormality of vision?", "seeds": [ "Abnormality of vision" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10537", "question": "What is associated with Epilepsy, progressive myoclonic, 10?", "seeds": [ "Epilepsy, progressive myoclonic, 10" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10538", "question": "What is associated with Frontal encephalocele?", "seeds": [ "Frontal encephalocele" ], "gold_answer": "Cephalocele", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10539", "question": "What is associated with VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1?", "seeds": [ "VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1" ], "gold_answer": "Ectopic calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10540", "question": "What is associated with Hepatic agenesis?", "seeds": [ "Hepatic agenesis" ], "gold_answer": "Aplasia/Hypoplasia of the liver", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10541", "question": "What phenotype is associated with Edinburgh malformation syndrome?", "seeds": [ "Edinburgh malformation syndrome" ], "gold_answer": "Subglottic stenosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10542", "question": "What is associated with Enlarged distal tibial epiphysis?", "seeds": [ "Enlarged distal tibial epiphysis" ], "gold_answer": "Abnormality of tibial epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10543", "question": "What is associated with Aplasia of the right hemidiaphragm?", "seeds": [ "Aplasia of the right hemidiaphragm" ], "gold_answer": "Abnormal right hemidiaphragm morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10544", "question": "What is associated with Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15?", "seeds": [ "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15" ], "gold_answer": "Hypoplastic female external genitalia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10545", "question": "What phenotype is associated with Isolated arrhinia?", "seeds": [ "Isolated arrhinia" ], "gold_answer": "Cyclopia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10546", "question": "What is associated with Galactosemia IV?", "seeds": [ "Galactosemia IV" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10547", "question": "What is associated with Diffuse cerebral sclerosis?", "seeds": [ "Diffuse cerebral sclerosis" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10548", "question": "What is associated with Increased peripheral myelin thickness?", "seeds": [ "Increased peripheral myelin thickness" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10549", "question": "What is associated with Deviation of toes?", "seeds": [ "Deviation of toes" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10550", "question": "What is associated with Porphyria, acute hepatic?", "seeds": [ "Porphyria, acute hepatic" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10551", "question": "What is associated with Encopresis?", "seeds": [ "Encopresis" ], "gold_answer": "Impairment of activities of daily living", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10552", "question": "What phenotype is associated with Agenesis of cerebral white matter?", "seeds": [ "Agenesis of cerebral white matter" ], "gold_answer": "Cerebral white matter agenesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10553", "question": "What phenotype is associated with Kaposi sarcoma, susceptibility to?", "seeds": [ "Kaposi sarcoma, susceptibility to" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10554", "question": "What is associated with Uvular swelling?", "seeds": [ "Uvular swelling" ], "gold_answer": "Abnormal uvula morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10555", "question": "What phenotype is associated with Laryngeal adductor paralysis?", "seeds": [ "Laryngeal adductor paralysis" ], "gold_answer": "Hoarse voice", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10556", "question": "What is associated with Aplasia/Hypoplasia of the brainstem?", "seeds": [ "Aplasia/Hypoplasia of the brainstem" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10557", "question": "What is associated with Foveal photoreceptor layer loss on macular OCT?", "seeds": [ "Foveal photoreceptor layer loss on macular OCT" ], "gold_answer": "Abnormal foveal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10558", "question": "What is associated with Blepharophimosis-ptosis-epicanthus inversus syndrome?", "seeds": [ "Blepharophimosis-ptosis-epicanthus inversus syndrome" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10559", "question": "What is associated with Recurrent bacterial upper respiratory tract infections?", "seeds": [ "Recurrent bacterial upper respiratory tract infections" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10560", "question": "What phenotype is associated with Muscular dystrophy, limb-girdle, type 2W?", "seeds": [ "Muscular dystrophy, limb-girdle, type 2W" ], "gold_answer": "Increased connective tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10561", "question": "What is associated with Aplasia/Hypoplasia of the middle phalanx of the 3rd finger?", "seeds": [ "Aplasia/Hypoplasia of the middle phalanx of the 3rd finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10562", "question": "What phenotype is associated with Thymoma, familial?", "seeds": [ "Thymoma, familial" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10563", "question": "What is associated with Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder?", "seeds": [ "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder" ], "gold_answer": "Abnormality of the ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10564", "question": "What is associated with Enlarged epiphyses of the 3rd finger?", "seeds": [ "Enlarged epiphyses of the 3rd finger" ], "gold_answer": "Abnormal 3rd finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10565", "question": "What is associated with Desmoplastic/nodular medulloblastoma?", "seeds": [ "Desmoplastic/nodular medulloblastoma" ], "gold_answer": "SUFU", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_10566", "question": "What is associated with Alobar holoprosencephaly?", "seeds": [ "Alobar holoprosencephaly" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10567", "question": "What is associated with Transitional atrioventricular canal defect?", "seeds": [ "Transitional atrioventricular canal defect" ], "gold_answer": "Atrioventricular canal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10568", "question": "What phenotype is associated with Ataxia-pancytopenia syndrome?", "seeds": [ "Ataxia-pancytopenia syndrome" ], "gold_answer": "Abnormality of the gingiva", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10569", "question": "What is associated with Arthrogryposis, distal, type 1B?", "seeds": [ "Arthrogryposis, distal, type 1B" ], "gold_answer": "Abnormal talus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10570", "question": "What is associated with Noonan syndrome?", "seeds": [ "Noonan syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the mandible", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10571", "question": "What phenotype is associated with Acute lung injury?", "seeds": [ "Acute lung injury" ], "gold_answer": "Hypoxemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10572", "question": "What phenotype is associated with Constricting bands, congenital?", "seeds": [ "Constricting bands, congenital" ], "gold_answer": "Gastroschisis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10573", "question": "What is associated with Incomplete partition of the cochlea?", "seeds": [ "Incomplete partition of the cochlea" ], "gold_answer": "Cochlear malformation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10574", "question": "What is associated with Neurodevelopmental disorder with visual defects and brain anomalies?", "seeds": [ "Neurodevelopmental disorder with visual defects and brain anomalies" ], "gold_answer": "Abnormal cerebral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10575", "question": "What is associated with Cerebral infarct?", "seeds": [ "Cerebral infarct" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10576", "question": "What is associated with Helicobacter pylori infection, susceptibility to?", "seeds": [ "Helicobacter pylori infection, susceptibility to" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10577", "question": "What is associated with Ductal bile plugs?", "seeds": [ "Ductal bile plugs" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10578", "question": "What is associated with Anti-GlyR antibody?", "seeds": [ "Anti-GlyR antibody" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10579", "question": "What is associated with Migraine with or without aura, susceptibility to, 6?", "seeds": [ "Migraine with or without aura, susceptibility to, 6" ], "gold_answer": "Sensory hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10580", "question": "What is associated with Congenital bullous ichthyosiform erythroderma?", "seeds": [ "Congenital bullous ichthyosiform erythroderma" ], "gold_answer": "Ichthyosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10581", "question": "What is associated with Buerger disease?", "seeds": [ "Buerger disease" ], "gold_answer": "Abnormality of skin adnexa physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10582", "question": "What phenotype is associated with Albinism-deafness syndrome?", "seeds": [ "Albinism-deafness syndrome" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10583", "question": "What phenotype is associated with Congenital pulmonary lymphangiectasia?", "seeds": [ "Congenital pulmonary lymphangiectasia" ], "gold_answer": "Capillary leak", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10584", "question": "What phenotype is associated with Macular dystrophy, retinal, 1, north Carolina type?", "seeds": [ "Macular dystrophy, retinal, 1, north Carolina type" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10585", "question": "What is associated with Compression-fractured thoracic vertebra?", "seeds": [ "Compression-fractured thoracic vertebra" ], "gold_answer": "Fractured thoracic vertebra", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10586", "question": "What phenotype is associated with Isolated osteopoikilosis?", "seeds": [ "Isolated osteopoikilosis" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10587", "question": "What is associated with Increased muscle fatiguability?", "seeds": [ "Increased muscle fatiguability" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10588", "question": "What is associated with Sclerosis of the proximal phalanx of the 2nd finger?", "seeds": [ "Sclerosis of the proximal phalanx of the 2nd finger" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10589", "question": "What is associated with Upper extremity hypokinesia?", "seeds": [ "Upper extremity hypokinesia" ], "gold_answer": "Hypokinesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10590", "question": "What is associated with Developmental and epileptic encephalopathy 106?", "seeds": [ "Developmental and epileptic encephalopathy 106" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10591", "question": "What is associated with Superiorly displaced ears?", "seeds": [ "Superiorly displaced ears" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10592", "question": "What is associated with High intestinal obstruction?", "seeds": [ "High intestinal obstruction" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10593", "question": "What is associated with Dilated vas deferens?", "seeds": [ "Dilated vas deferens" ], "gold_answer": "Abnormal vas deferens morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10594", "question": "What is associated with Elevated circulating hexanoylcarnitine concentration?", "seeds": [ "Elevated circulating hexanoylcarnitine concentration" ], "gold_answer": "Elevated circulating C6 acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10595", "question": "What phenotype is associated with Proximal 16p11.2 microdeletion syndrome?", "seeds": [ "Proximal 16p11.2 microdeletion syndrome" ], "gold_answer": "Cranial nerve paralysis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10596", "question": "What is associated with ACROOSTEOLYSIS?", "seeds": [ "ACROOSTEOLYSIS" ], "gold_answer": "Osteolytic defects of the hand bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10597", "question": "What is associated with Long-chain dicarboxylic aciduria?", "seeds": [ "Long-chain dicarboxylic aciduria" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10598", "question": "What is associated with Reduced CD95-induced lymphocyte apoptosis?", "seeds": [ "Reduced CD95-induced lymphocyte apoptosis" ], "gold_answer": "Abnormal T cell apoptosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10599", "question": "What is associated with Maceration?", "seeds": [ "Maceration" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10600", "question": "What is associated with EEG with central sharp slow waves?", "seeds": [ "EEG with central sharp slow waves" ], "gold_answer": "EEG with focal sharp slow waves", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10601", "question": "What is associated with Part-solid pulmonary nodule?", "seeds": [ "Part-solid pulmonary nodule" ], "gold_answer": "Pulmonary nodule", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10602", "question": "What is associated with Incessant infant ventricular tachycardia?", "seeds": [ "Incessant infant ventricular tachycardia" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10603", "question": "What phenotype is associated with Mast cell sarcoma?", "seeds": [ "Mast cell sarcoma" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10604", "question": "What is associated with Femoral bowing present at birth, straightening with time?", "seeds": [ "Femoral bowing present at birth, straightening with time" ], "gold_answer": "Bowing of the long bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10605", "question": "What is associated with Eclampsia?", "seeds": [ "Eclampsia" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10606", "question": "What is associated with Spondylocostal dysostosis 6, autosomal recessive?", "seeds": [ "Spondylocostal dysostosis 6, autosomal recessive" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10607", "question": "What is associated with Combined oxidative phosphorylation deficiency 46?", "seeds": [ "Combined oxidative phosphorylation deficiency 46" ], "gold_answer": "Abnormal activity of mitochondrial respiratory chain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10608", "question": "What is associated with Elevated circulating vitamin B12 concentration?", "seeds": [ "Elevated circulating vitamin B12 concentration" ], "gold_answer": "Abnormal circulating vitamin B12 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10609", "question": "What is associated with Abnormal double-negative T cell proportion?", "seeds": [ "Abnormal double-negative T cell proportion" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10610", "question": "What phenotype is associated with Deafness, autosomal recessive 70?", "seeds": [ "Deafness, autosomal recessive 70" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10611", "question": "What is associated with Spinocerebellar ataxia type 19/22?", "seeds": [ "Spinocerebellar ataxia type 19/22" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10612", "question": "What is associated with Polyglucosan body myopathy type 2?", "seeds": [ "Polyglucosan body myopathy type 2" ], "gold_answer": "GYG1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_10613", "question": "What is associated with Loss of gluteal subcutaneous adipose tissue?", "seeds": [ "Loss of gluteal subcutaneous adipose tissue" ], "gold_answer": "Decreased adipose tissue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10614", "question": "What is associated with Nephronophthisis 4?", "seeds": [ "Nephronophthisis 4" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10615", "question": "What is associated with Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism?", "seeds": [ "Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10616", "question": "What is associated with Pleural cobblestoning?", "seeds": [ "Pleural cobblestoning" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10617", "question": "What is associated with Fractured proximal phalanx of manual digit 1?", "seeds": [ "Fractured proximal phalanx of manual digit 1" ], "gold_answer": "Fractured finger phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10618", "question": "What phenotype is associated with Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome?", "seeds": [ "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome" ], "gold_answer": "Inflammation of the large intestine", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10619", "question": "What is associated with Bracket epiphysis of the proximal phalanx of the 5th toe?", "seeds": [ "Bracket epiphysis of the proximal phalanx of the 5th toe" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10620", "question": "What is associated with Globe retraction and deviation on abduction?", "seeds": [ "Globe retraction and deviation on abduction" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10621", "question": "What is associated with True anophthalmia?", "seeds": [ "True anophthalmia" ], "gold_answer": "Abnormality of globe size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10622", "question": "What is associated with Abnormal circulating ferritin concentration?", "seeds": [ "Abnormal circulating ferritin concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10623", "question": "What is associated with Aplasia/Hypoplasia of the proximal phalanx of the thumb?", "seeds": [ "Aplasia/Hypoplasia of the proximal phalanx of the thumb" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10624", "question": "What is associated with Increased hepatitis A virus antibody level?", "seeds": [ "Increased hepatitis A virus antibody level" ], "gold_answer": "Increased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10625", "question": "What is associated with Reduced intrathoracic adipose tissue?", "seeds": [ "Reduced intrathoracic adipose tissue" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10626", "question": "What is associated with Multinucleated neuron?", "seeds": [ "Multinucleated neuron" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10627", "question": "What is associated with Hyperinsulinemic hypoglycemia, familial, 2?", "seeds": [ "Hyperinsulinemic hypoglycemia, familial, 2" ], "gold_answer": "Abnormal pancreas morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10628", "question": "What phenotype is associated with Spastic paraplegia 29, autosomal dominant?", "seeds": [ "Spastic paraplegia 29, autosomal dominant" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10629", "question": "What is associated with Abnormal myelination?", "seeds": [ "Abnormal myelination" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10630", "question": "What is associated with Progressive truncal ataxia?", "seeds": [ "Progressive truncal ataxia" ], "gold_answer": "Truncal ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10631", "question": "What is associated with Retinopathy of prematurity stage 3?", "seeds": [ "Retinopathy of prematurity stage 3" ], "gold_answer": "Retinopathy of prematurity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10632", "question": "What is associated with Abnormal circulating heparan sulfate level?", "seeds": [ "Abnormal circulating heparan sulfate level" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10633", "question": "What is associated with Torus palatinus?", "seeds": [ "Torus palatinus" ], "gold_answer": "Abnormal hard palate morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10634", "question": "What is associated with Posttussive emesis?", "seeds": [ "Posttussive emesis" ], "gold_answer": "Vomiting", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10635", "question": "What is associated with Branchial sinus?", "seeds": [ "Branchial sinus" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10636", "question": "What is associated with Spastic paraplegia-precocious puberty syndrome?", "seeds": [ "Spastic paraplegia-precocious puberty syndrome" ], "gold_answer": "Paraplegia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10637", "question": "What is associated with Irregular, rachitic-like metaphyses?", "seeds": [ "Irregular, rachitic-like metaphyses" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10638", "question": "What is associated with Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio?", "seeds": [ "Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10639", "question": "What is associated with Renal cell carcinoma, xp11-associated?", "seeds": [ "Renal cell carcinoma, xp11-associated" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10640", "question": "What is associated with Excessive eructation?", "seeds": [ "Excessive eructation" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10641", "question": "What is associated with Decreased alveolar volume?", "seeds": [ "Decreased alveolar volume" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10642", "question": "What is associated with Horizontal ribs?", "seeds": [ "Horizontal ribs" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10643", "question": "What is associated with Inferiorly positioned umbilicus?", "seeds": [ "Inferiorly positioned umbilicus" ], "gold_answer": "Abnormal abdominal wall morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10644", "question": "What is associated with Elevated circulating insulin:C-peptide ratio?", "seeds": [ "Elevated circulating insulin:C-peptide ratio" ], "gold_answer": "Abnormal circulating insulin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10645", "question": "What is associated with Broad femoral head?", "seeds": [ "Broad femoral head" ], "gold_answer": "Abnormal femoral neck/head morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10646", "question": "What is associated with Epileptic encephalopathy, early infantile, 60?", "seeds": [ "Epileptic encephalopathy, early infantile, 60" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10647", "question": "What is associated with Periostosis?", "seeds": [ "Periostosis" ], "gold_answer": "Abnormal periosteum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10648", "question": "What is associated with Abnormal hand cortical bone morphology?", "seeds": [ "Abnormal hand cortical bone morphology" ], "gold_answer": "Abnormal cortical bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10649", "question": "What is associated with Cerebroretinal microangiopathy with calcifications and cysts 2?", "seeds": [ "Cerebroretinal microangiopathy with calcifications and cysts 2" ], "gold_answer": "Increased blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10650", "question": "What is associated with Atrial fibrillation, familial, 11?", "seeds": [ "Atrial fibrillation, familial, 11" ], "gold_answer": "Abnormal left ventricular function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10651", "question": "What phenotype is associated with Polydactyly, postaxial, type A6?", "seeds": [ "Polydactyly, postaxial, type A6" ], "gold_answer": "Abnormal sweat gland morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10652", "question": "What is associated with Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality?", "seeds": [ "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10653", "question": "What is associated with Reduced plantar creases?", "seeds": [ "Reduced plantar creases" ], "gold_answer": "Abnormality of the plantar skin of foot", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10654", "question": "What is associated with Tongue nodules?", "seeds": [ "Tongue nodules" ], "gold_answer": "Abnormal tongue morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10655", "question": "What phenotype is associated with Proximal 3rd toe symphalangism?", "seeds": [ "Proximal 3rd toe symphalangism" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10656", "question": "What phenotype is associated with Cole-Carpenter syndrome?", "seeds": [ "Cole-Carpenter syndrome" ], "gold_answer": "Midface retrusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10657", "question": "What is associated with Severe periodontitis?", "seeds": [ "Severe periodontitis" ], "gold_answer": "Periodontitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10658", "question": "What is associated with Elevated urine L-alloisoleucine level?", "seeds": [ "Elevated urine L-alloisoleucine level" ], "gold_answer": "Increased urine proteinogenic amino acid derivative level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10659", "question": "What is associated with Chromosome 14q11-q22 deletion syndrome?", "seeds": [ "Chromosome 14q11-q22 deletion syndrome" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10660", "question": "What is associated with Pain on the lateral aspect of the foot?", "seeds": [ "Pain on the lateral aspect of the foot" ], "gold_answer": "Lower limb pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10661", "question": "What is associated with Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome?", "seeds": [ "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10662", "question": "What is associated with Dysharmonic maturation of the hand bones?", "seeds": [ "Dysharmonic maturation of the hand bones" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10663", "question": "What is associated with Long ulna?", "seeds": [ "Long ulna" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10664", "question": "What is associated with Autosomal dominant spastic ataxia type 1?", "seeds": [ "Autosomal dominant spastic ataxia type 1" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10665", "question": "What is associated with Decreased erythrocyte UDP glucose-4-epimerase concentration?", "seeds": [ "Decreased erythrocyte UDP glucose-4-epimerase concentration" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10666", "question": "What is associated with Abnormal distal humeral epiphysis morphology?", "seeds": [ "Abnormal distal humeral epiphysis morphology" ], "gold_answer": "Abnormal elbow epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10667", "question": "What is associated with Euthyroid multinodular goiter?", "seeds": [ "Euthyroid multinodular goiter" ], "gold_answer": "Abnormal thyroid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10668", "question": "What is associated with Elevated circulating acetylcarnitine concentration?", "seeds": [ "Elevated circulating acetylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10669", "question": "What is associated with Fibular aplasia-complex brachydactyly syndrome?", "seeds": [ "Fibular aplasia-complex brachydactyly syndrome" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10670", "question": "What is associated with Non-motor seizure?", "seeds": [ "Non-motor seizure" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10671", "question": "What is associated with Lymphedema, hereditary, II?", "seeds": [ "Lymphedema, hereditary, II" ], "gold_answer": "Craniofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10672", "question": "What is associated with Asymmetrical distribution of flash visual evoked potentials?", "seeds": [ "Asymmetrical distribution of flash visual evoked potentials" ], "gold_answer": "Abnormal flash visual evoked potentials", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10673", "question": "What is associated with Systemic autoinflammation?", "seeds": [ "Systemic autoinflammation" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10674", "question": "What is associated with Elevated sweat chloride?", "seeds": [ "Elevated sweat chloride" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10675", "question": "What is associated with Recurrent sinusitis?", "seeds": [ "Recurrent sinusitis" ], "gold_answer": "Sinusitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10676", "question": "What is associated with Distally placed thumb?", "seeds": [ "Distally placed thumb" ], "gold_answer": "Deviation of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10677", "question": "What phenotype is associated with Osteosclerosis-developmental delay-craniosynostosis syndrome?", "seeds": [ "Osteosclerosis-developmental delay-craniosynostosis syndrome" ], "gold_answer": "High forehead", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10678", "question": "What is associated with Jumping?", "seeds": [ "Jumping" ], "gold_answer": "Sensory behavioral abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10679", "question": "What is associated with Abnormal natural killer cell morphology?", "seeds": [ "Abnormal natural killer cell morphology" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10680", "question": "What is associated with Ductus venosus agenesis with intrahepatic drainage?", "seeds": [ "Ductus venosus agenesis with intrahepatic drainage" ], "gold_answer": "Ductus venosus agenesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10681", "question": "What is associated with Positive talar tilt test?", "seeds": [ "Positive talar tilt test" ], "gold_answer": "Abnormality of the ankle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10682", "question": "What is associated with Absence of the third cerebral ventricle?", "seeds": [ "Absence of the third cerebral ventricle" ], "gold_answer": "Abnormal third ventricle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10683", "question": "What is associated with Abnormal atrioventricular valve morphology?", "seeds": [ "Abnormal atrioventricular valve morphology" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10684", "question": "What is associated with Periodic paralysis?", "seeds": [ "Periodic paralysis" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10685", "question": "What is associated with Cortical radial artery medial hypertrophy?", "seeds": [ "Cortical radial artery medial hypertrophy" ], "gold_answer": "Abnormal cortical radial artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10686", "question": "What is associated with Cerebral ventricular adhesions?", "seeds": [ "Cerebral ventricular adhesions" ], "gold_answer": "Abnormal cerebral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10687", "question": "What is associated with Morbilliform?", "seeds": [ "Morbilliform" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10688", "question": "What is associated with Orthokeratosis?", "seeds": [ "Orthokeratosis" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10689", "question": "What is associated with Charcot-Marie-Tooth disease, type 4B3?", "seeds": [ "Charcot-Marie-Tooth disease, type 4B3" ], "gold_answer": "Distal muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10690", "question": "What phenotype is associated with Ulnar-mammary syndrome?", "seeds": [ "Ulnar-mammary syndrome" ], "gold_answer": "Obesity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10691", "question": "What is associated with Retinal phlebitis?", "seeds": [ "Retinal phlebitis" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10692", "question": "What is associated with Pericentral scotoma?", "seeds": [ "Pericentral scotoma" ], "gold_answer": "Scotoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10693", "question": "What is associated with Cholesteatoma?", "seeds": [ "Cholesteatoma" ], "gold_answer": "Abnormal middle ear morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10694", "question": "What is associated with Cardiac teratoma?", "seeds": [ "Cardiac teratoma" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10695", "question": "What is associated with Congenital alopecia totalis?", "seeds": [ "Congenital alopecia totalis" ], "gold_answer": "Alopecia totalis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10696", "question": "What is associated with Posterior staphyloma?", "seeds": [ "Posterior staphyloma" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10697", "question": "What is associated with Ameliorated by vitamin B12?", "seeds": [ "Ameliorated by vitamin B12" ], "gold_answer": "Ameliorated by", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10698", "question": "What is associated with Metacarpal fracture?", "seeds": [ "Metacarpal fracture" ], "gold_answer": "Fractured hand bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10699", "question": "What phenotype is associated with DEGCAGS syndrome?", "seeds": [ "DEGCAGS syndrome" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10700", "question": "What is associated with Amyotrophic lateral sclerosis 21?", "seeds": [ "Amyotrophic lateral sclerosis 21" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10701", "question": "What is associated with Decreased circulating gonadotropin concentration?", "seeds": [ "Decreased circulating gonadotropin concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10702", "question": "What is associated with Unilateral radial aplasia?", "seeds": [ "Unilateral radial aplasia" ], "gold_answer": "Absent radius", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10703", "question": "What is associated with Ungual fibroma?", "seeds": [ "Ungual fibroma" ], "gold_answer": "Sarcoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10704", "question": "What is associated with Autosomal recessive spastic paraplegia type 5A?", "seeds": [ "Autosomal recessive spastic paraplegia type 5A" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10705", "question": "What phenotype is associated with HJV or HAMP-related hemochromatosis?", "seeds": [ "HJV or HAMP-related hemochromatosis" ], "gold_answer": "Elevated circulating hepatic transaminase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10706", "question": "What is associated with Delayed distal femoral epiphyseal ossification?", "seeds": [ "Delayed distal femoral epiphyseal ossification" ], "gold_answer": "Abnormality of the distal femoral epiphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10707", "question": "What is associated with Aplasia/Hypoplasia affecting the anterior segment of the eye?", "seeds": [ "Aplasia/Hypoplasia affecting the anterior segment of the eye" ], "gold_answer": "Ocular anterior segment dysgenesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10708", "question": "What is associated with Allergic rhinitis?", "seeds": [ "Allergic rhinitis" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10709", "question": "What is associated with Facial paresis, hereditary congenital, 1?", "seeds": [ "Facial paresis, hereditary congenital, 1" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10710", "question": "What is associated with Abnormal circulating beta-CTX concentration?", "seeds": [ "Abnormal circulating beta-CTX concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10711", "question": "What is associated with X-linked dystonia-parkinsonism?", "seeds": [ "X-linked dystonia-parkinsonism" ], "gold_answer": "Abnormal eyelid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10712", "question": "What is associated with Molar tooth sign on MRI?", "seeds": [ "Molar tooth sign on MRI" ], "gold_answer": "Abnormal midbrain morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10713", "question": "What is associated with Osteochondrosis of the tarsal bone?", "seeds": [ "Osteochondrosis of the tarsal bone" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10714", "question": "What is associated with Coronary artery disease, autosomal dominant 2?", "seeds": [ "Coronary artery disease, autosomal dominant 2" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10715", "question": "What phenotype is associated with Dentinogenesis imperfecta?", "seeds": [ "Dentinogenesis imperfecta" ], "gold_answer": "Abnormality of the dental pulp", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10716", "question": "What is associated with Leukonychia totalis?", "seeds": [ "Leukonychia totalis" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10717", "question": "What phenotype is associated with Posterior polymorphous corneal dystrophy?", "seeds": [ "Posterior polymorphous corneal dystrophy" ], "gold_answer": "Ocular pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10718", "question": "What is associated with Li-Fraumeni syndrome?", "seeds": [ "Li-Fraumeni syndrome" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10719", "question": "What is associated with Goiter, multinodular 2?", "seeds": [ "Goiter, multinodular 2" ], "gold_answer": "Goiter", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10720", "question": "What is associated with Agoraphobia?", "seeds": [ "Agoraphobia" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10721", "question": "What phenotype is associated with Infantile Krabbe disease?", "seeds": [ "Infantile Krabbe disease" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10722", "question": "What is associated with Urinary bladder neurofibroma?", "seeds": [ "Urinary bladder neurofibroma" ], "gold_answer": "Urinary tract neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10723", "question": "What is associated with Thymic cyst?", "seeds": [ "Thymic cyst" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10724", "question": "What is associated with Abnormal left ventricular ejection fraction?", "seeds": [ "Abnormal left ventricular ejection fraction" ], "gold_answer": "Abnormal cardiac ventricular function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10725", "question": "What is associated with Intellectual developmental disorder, X-linked 84?", "seeds": [ "Intellectual developmental disorder, X-linked 84" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10726", "question": "What is associated with Polydactyly affecting the 4th finger?", "seeds": [ "Polydactyly affecting the 4th finger" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10727", "question": "What phenotype is associated with Pouchitis?", "seeds": [ "Pouchitis" ], "gold_answer": "Abdominal cramps", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10728", "question": "What is associated with Hypoplasia of the fallopian tube?", "seeds": [ "Hypoplasia of the fallopian tube" ], "gold_answer": "Aplasia/Hypoplasia of the fallopian tube", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10729", "question": "What is associated with Sleep-related hypermotor epilepsy?", "seeds": [ "Sleep-related hypermotor epilepsy" ], "gold_answer": "Abnormal psychotic pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10730", "question": "What is associated with Avulsion fractured epiphysis of femur?", "seeds": [ "Avulsion fractured epiphysis of femur" ], "gold_answer": "Fractured epiphysis of femur", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10731", "question": "What phenotype is associated with Myopathy, distal 3?", "seeds": [ "Myopathy, distal 3" ], "gold_answer": "Muscular dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10732", "question": "What phenotype is associated with IgG4-related retroperitoneal fibrosis?", "seeds": [ "IgG4-related retroperitoneal fibrosis" ], "gold_answer": "Elevated circulating creatinine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10733", "question": "What is associated with Cone-shaped epiphyses of the 5th toe?", "seeds": [ "Cone-shaped epiphyses of the 5th toe" ], "gold_answer": "Cone-shaped epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10734", "question": "What is associated with Shaheen syndrome?", "seeds": [ "Shaheen syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10735", "question": "What is associated with Radial artery aplasia?", "seeds": [ "Radial artery aplasia" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10736", "question": "What is associated with Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency?", "seeds": [ "Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" ], "gold_answer": "RORC", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10737", "question": "What is associated with Anti-Septin-5 antibody?", "seeds": [ "Anti-Septin-5 antibody" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10738", "question": "What phenotype is associated with Congenital ichthyosis-microcephalus-tetraplegia syndrome?", "seeds": [ "Congenital ichthyosis-microcephalus-tetraplegia syndrome" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10739", "question": "What is associated with Abnormal DLCO?", "seeds": [ "Abnormal DLCO" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10740", "question": "What is associated with Pseudohypoaldosteronism, type IIC?", "seeds": [ "Pseudohypoaldosteronism, type IIC" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10741", "question": "What is associated with Normal interictal EEG?", "seeds": [ "Normal interictal EEG" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10742", "question": "What is associated with Cerebral ischemia?", "seeds": [ "Cerebral ischemia" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10743", "question": "What is associated with Focal aware autonomic seizure with urge to urinate/defecate?", "seeds": [ "Focal aware autonomic seizure with urge to urinate/defecate" ], "gold_answer": "Focal aware autonomic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10744", "question": "What is associated with Testes, rudimentary?", "seeds": [ "Testes, rudimentary" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10745", "question": "What is associated with Earlobes, thickened, with conductive deafness from incudostapedialabnormalities?", "seeds": [ "Earlobes, thickened, with conductive deafness from incudostapedialabnormalities" ], "gold_answer": "Aplasia/Hypoplasia of the mandible", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10746", "question": "What is associated with Isolated Klippel-Feil syndrome?", "seeds": [ "Isolated Klippel-Feil syndrome" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10747", "question": "What phenotype is associated with Atrioventricular septal defect, partial, with heterotaxy syndrome?", "seeds": [ "Atrioventricular septal defect, partial, with heterotaxy syndrome" ], "gold_answer": "Intestinal malrotation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10748", "question": "What is associated with Abnormal CD69 upregulation upon TCR activation?", "seeds": [ "Abnormal CD69 upregulation upon TCR activation" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10749", "question": "What phenotype is associated with Fanconi renotubular syndrome 1?", "seeds": [ "Fanconi renotubular syndrome 1" ], "gold_answer": "Metabolic acidosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10750", "question": "What is associated with Diffuse cerebral atrophy?", "seeds": [ "Diffuse cerebral atrophy" ], "gold_answer": "Atrophy/Degeneration affecting the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10751", "question": "What is associated with Hemolytic anemia with thermal sensitivity of red cells?", "seeds": [ "Hemolytic anemia with thermal sensitivity of red cells" ], "gold_answer": "Anemia due to reduced life span of red cells", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10752", "question": "What is associated with Dislocated radial head?", "seeds": [ "Dislocated radial head" ], "gold_answer": "Abnormal elbow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10753", "question": "What is associated with Laryngeal papilloma?", "seeds": [ "Laryngeal papilloma" ], "gold_answer": "Neoplasm of the respiratory system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10754", "question": "What is associated with Neuronopathy, distal hereditary motor, type X?", "seeds": [ "Neuronopathy, distal hereditary motor, type X" ], "gold_answer": "Abnormality of the musculature of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10755", "question": "What is associated with Parotid gland adenocarcinoma?", "seeds": [ "Parotid gland adenocarcinoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10756", "question": "What is associated with Sebaceous gland carcinoma?", "seeds": [ "Sebaceous gland carcinoma" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10757", "question": "What phenotype is associated with Deafness-Oligodontia syndrome?", "seeds": [ "Deafness-Oligodontia syndrome" ], "gold_answer": "Eclabion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10758", "question": "What is associated with Reduced muscle 2,4-dienoyl-CoA reductase activity?", "seeds": [ "Reduced muscle 2,4-dienoyl-CoA reductase activity" ], "gold_answer": "Abnormal enzyme activity in muscle tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10759", "question": "What phenotype is associated with Dandy-Walker syndrome?", "seeds": [ "Dandy-Walker syndrome" ], "gold_answer": "Partial absence of cerebellar vermis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10760", "question": "What phenotype is associated with Mandibulofacial dysostosis-microcephaly syndrome?", "seeds": [ "Mandibulofacial dysostosis-microcephaly syndrome" ], "gold_answer": "Choanal atresia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10761", "question": "What is associated with Abnormal circulating progesterone level?", "seeds": [ "Abnormal circulating progesterone level" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10762", "question": "What is associated with Positive urine cocaine test?", "seeds": [ "Positive urine cocaine test" ], "gold_answer": "Presence of xenobiotic", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10763", "question": "What is associated with Ulnar/fibula ray defect-brachydactyly syndrome?", "seeds": [ "Ulnar/fibula ray defect-brachydactyly syndrome" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10764", "question": "What is associated with Reduced residual volume?", "seeds": [ "Reduced residual volume" ], "gold_answer": "Abnormal residual volume", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10765", "question": "What is associated with Congenital amegakaryocytic thrombocytopenia?", "seeds": [ "Congenital amegakaryocytic thrombocytopenia" ], "gold_answer": "Nevus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10766", "question": "What is associated with Carney-Stratakis syndrome?", "seeds": [ "Carney-Stratakis syndrome" ], "gold_answer": "SDHC", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_10767", "question": "What phenotype is associated with Orofaciodigital syndrome XI?", "seeds": [ "Orofaciodigital syndrome XI" ], "gold_answer": "Esophagitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10768", "question": "What is associated with Chromosome 9P deletion syndrome?", "seeds": [ "Chromosome 9P deletion syndrome" ], "gold_answer": "Abnormal neck morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10769", "question": "What is associated with Inner retinal layer loss on macular OCT?", "seeds": [ "Inner retinal layer loss on macular OCT" ], "gold_answer": "Abnormal optical coherence tomography", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10770", "question": "What is associated with Partial duplication of thumb phalanx?", "seeds": [ "Partial duplication of thumb phalanx" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10771", "question": "What phenotype is associated with Spastic paraplegia 26, autosomal recessive?", "seeds": [ "Spastic paraplegia 26, autosomal recessive" ], "gold_answer": "Dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10772", "question": "What is associated with Grade V vesicoureteral reflux?", "seeds": [ "Grade V vesicoureteral reflux" ], "gold_answer": "High-grade vesicoureteral reflux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10773", "question": "What is associated with Fragile X-associated primary ovarian insufficiency?", "seeds": [ "Fragile X-associated primary ovarian insufficiency" ], "gold_answer": "FMR1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10774", "question": "What is associated with Nipple tenderness?", "seeds": [ "Nipple tenderness" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10775", "question": "What is associated with Epileptic aura?", "seeds": [ "Epileptic aura" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10776", "question": "What is associated with C1-C2 subluxation?", "seeds": [ "C1-C2 subluxation" ], "gold_answer": "C1-C2 vertebral abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10777", "question": "What is associated with Dysmetria?", "seeds": [ "Dysmetria" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10778", "question": "What is associated with Weakness of muscles of respiration?", "seeds": [ "Weakness of muscles of respiration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10779", "question": "What is associated with Elevated brain guanidinoacetate level by MRS?", "seeds": [ "Elevated brain guanidinoacetate level by MRS" ], "gold_answer": "Abnormal metabolic brain imaging by MRS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10780", "question": "What is associated with Saddle-back type ST segment elevation?", "seeds": [ "Saddle-back type ST segment elevation" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10781", "question": "What is associated with Decreased Th17 T cell proportion?", "seeds": [ "Decreased Th17 T cell proportion" ], "gold_answer": "Abnormal T cell physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10782", "question": "What phenotype is associated with Microvillus inclusion disease?", "seeds": [ "Microvillus inclusion disease" ], "gold_answer": "Diarrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10783", "question": "What is associated with Absent sternal ossification?", "seeds": [ "Absent sternal ossification" ], "gold_answer": "Abnormal sternum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10784", "question": "What is associated with Acatalasemia?", "seeds": [ "Acatalasemia" ], "gold_answer": "Abnormality of the upper respiratory tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10785", "question": "What is associated with Abnormal middle ear reflexes?", "seeds": [ "Abnormal middle ear reflexes" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10786", "question": "What is associated with Accessory carpal bones?", "seeds": [ "Accessory carpal bones" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10787", "question": "What is associated with Midperipheral?", "seeds": [ "Midperipheral" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10788", "question": "What is associated with EEG with localized low amplitude activity?", "seeds": [ "EEG with localized low amplitude activity" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10789", "question": "What is associated with Tooth ankylosis?", "seeds": [ "Tooth ankylosis" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10790", "question": "What is associated with Ivory epiphysis of the distal phalanx of the 3rd finger?", "seeds": [ "Ivory epiphysis of the distal phalanx of the 3rd finger" ], "gold_answer": "Ivory epiphyses of the distal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10791", "question": "What is associated with Alpha-N-acetylgalactosaminidase deficiency type 2?", "seeds": [ "Alpha-N-acetylgalactosaminidase deficiency type 2" ], "gold_answer": "Abnormal corneal stroma morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10792", "question": "What is associated with Decreased urinary potassium?", "seeds": [ "Decreased urinary potassium" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10793", "question": "What phenotype is associated with Cerebrocostomandibular syndrome?", "seeds": [ "Cerebrocostomandibular syndrome" ], "gold_answer": "Anteriorly placed anus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10794", "question": "What phenotype is associated with Cervical vertebral dysplasia?", "seeds": [ "Cervical vertebral dysplasia" ], "gold_answer": "Cervical vertebral facet hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10795", "question": "What is associated with Increased adipose tissue?", "seeds": [ "Increased adipose tissue" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10796", "question": "What is associated with Increased female libido?", "seeds": [ "Increased female libido" ], "gold_answer": "Abnormal sexual behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10797", "question": "What is associated with Hydroxyprolinemia?", "seeds": [ "Hydroxyprolinemia" ], "gold_answer": "Abnormal circulating proline concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10798", "question": "What is associated with Abnormal nasolabial region morphology?", "seeds": [ "Abnormal nasolabial region morphology" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10799", "question": "What is associated with Decreased circulating vitamin D concentration?", "seeds": [ "Decreased circulating vitamin D concentration" ], "gold_answer": "Abnormal metabolism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10800", "question": "What phenotype is associated with Hennekam lymphangiectasia-lymphedema syndrome?", "seeds": [ "Hennekam lymphangiectasia-lymphedema syndrome" ], "gold_answer": "Talipes equinovarus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10801", "question": "What is associated with Increased urinary taurine?", "seeds": [ "Increased urinary taurine" ], "gold_answer": "Increased urine proteinogenic amino acid derivative level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10802", "question": "What is associated with Taurodontia?", "seeds": [ "Taurodontia" ], "gold_answer": "Abnormal dental morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10803", "question": "What is associated with Parkinson disease 6, autosomal recessive early-onset?", "seeds": [ "Parkinson disease 6, autosomal recessive early-onset" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10804", "question": "What is associated with Axenfeld-rieger syndrome, type 2?", "seeds": [ "Axenfeld-rieger syndrome, type 2" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10805", "question": "What phenotype is associated with Solitary fibrous tumor?", "seeds": [ "Solitary fibrous tumor" ], "gold_answer": "Soft tissue neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10806", "question": "What is associated with Hypertrichosis terminalis, generalized, with or without gingival hyperplasia?", "seeds": [ "Hypertrichosis terminalis, generalized, with or without gingival hyperplasia" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10807", "question": "What is associated with Empty sella turcica?", "seeds": [ "Empty sella turcica" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10808", "question": "What is associated with Increased RBC distribution width?", "seeds": [ "Increased RBC distribution width" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10809", "question": "What phenotype is associated with Cardiomyopathy, familial restrictive, 6?", "seeds": [ "Cardiomyopathy, familial restrictive, 6" ], "gold_answer": "Pulmonic regurgitation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10810", "question": "What is associated with Delayed ability to walk with support?", "seeds": [ "Delayed ability to walk with support" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10811", "question": "What is associated with Immunodeficiency 38 with basal ganglia calcification?", "seeds": [ "Immunodeficiency 38 with basal ganglia calcification" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10812", "question": "What is associated with Atypical hemolytic uremic syndrome?", "seeds": [ "Atypical hemolytic uremic syndrome" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10813", "question": "What is associated with Steatorrhea?", "seeds": [ "Steatorrhea" ], "gold_answer": "Malabsorption", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10814", "question": "What is associated with Ectopia cordis?", "seeds": [ "Ectopia cordis" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10815", "question": "What is associated with High, narrow palate?", "seeds": [ "High, narrow palate" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10816", "question": "What is associated with CSF mycobacteria?", "seeds": [ "CSF mycobacteria" ], "gold_answer": "Bacteria in cerebrospinal fluid", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10817", "question": "What is associated with Absent hallux?", "seeds": [ "Absent hallux" ], "gold_answer": "Absent toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10818", "question": "What is associated with Anti-p53 antibody positivity?", "seeds": [ "Anti-p53 antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10819", "question": "What is associated with Focal bilateral motor seizure?", "seeds": [ "Focal bilateral motor seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10820", "question": "What is associated with Hemorrhage of the eye?", "seeds": [ "Hemorrhage of the eye" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10821", "question": "What is associated with Direct antiglobulin test positive for C3d?", "seeds": [ "Direct antiglobulin test positive for C3d" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10822", "question": "What is associated with Ventouse delivery?", "seeds": [ "Ventouse delivery" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10823", "question": "What is associated with Agenesis of corpus callosum?", "seeds": [ "Agenesis of corpus callosum" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10824", "question": "What is associated with Focal aware automatism seizure?", "seeds": [ "Focal aware automatism seizure" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10825", "question": "What is associated with Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome?", "seeds": [ "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10826", "question": "What is associated with Spastic paraplegia 73, autosomal dominant?", "seeds": [ "Spastic paraplegia 73, autosomal dominant" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10827", "question": "What is associated with Chronic atrial and intestinal dysrhythmia?", "seeds": [ "Chronic atrial and intestinal dysrhythmia" ], "gold_answer": "Abnormal atrioventricular valve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10828", "question": "What is associated with Anti-lipoprotein lipase autoantibody positivity?", "seeds": [ "Anti-lipoprotein lipase autoantibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10829", "question": "What is associated with Anti-von Willebrand factor antibody positivity?", "seeds": [ "Anti-von Willebrand factor antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10830", "question": "What is associated with Chromosome 19p13.13 deletion syndrome?", "seeds": [ "Chromosome 19p13.13 deletion syndrome" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10831", "question": "What is associated with Bleeding disorder, platelet-type, 15?", "seeds": [ "Bleeding disorder, platelet-type, 15" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10832", "question": "What is associated with Aortic dissection?", "seeds": [ "Aortic dissection" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10833", "question": "What is associated with Abnormal epiglottis morphology?", "seeds": [ "Abnormal epiglottis morphology" ], "gold_answer": "Abnormality of the larynx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10834", "question": "What is associated with Abnormal MHC II cell surface expression?", "seeds": [ "Abnormal MHC II cell surface expression" ], "gold_answer": "Abnormal MHC surface expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10835", "question": "What is associated with Epiphyseal dysplasia, multiple, 1?", "seeds": [ "Epiphyseal dysplasia, multiple, 1" ], "gold_answer": "Abnormal femoral epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10836", "question": "What is associated with Cognitive function 1, social?", "seeds": [ "Cognitive function 1, social" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10837", "question": "What is associated with Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction?", "seeds": [ "Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction" ], "gold_answer": "Constipation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10838", "question": "What is associated with Abnormal hemoglobin?", "seeds": [ "Abnormal hemoglobin" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10839", "question": "What is associated with Aplasia/Hypoplasia affecting the anterior segment of the eye?", "seeds": [ "Aplasia/Hypoplasia affecting the anterior segment of the eye" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10840", "question": "What is associated with Cone-shaped epiphysis of the middle phalanx of the 2nd finger?", "seeds": [ "Cone-shaped epiphysis of the middle phalanx of the 2nd finger" ], "gold_answer": "Cone-shaped epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10841", "question": "What is associated with Elevated tissue non-specific alkaline phosphatase?", "seeds": [ "Elevated tissue non-specific alkaline phosphatase" ], "gold_answer": "Elevated circulating alkaline phosphatase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10842", "question": "What is associated with Mild neurosensory hearing impairment?", "seeds": [ "Mild neurosensory hearing impairment" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10843", "question": "What is associated with Abnormal circulating porphyrin concentration?", "seeds": [ "Abnormal circulating porphyrin concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10844", "question": "What is associated with Premature separation of centromeric heterochromatin?", "seeds": [ "Premature separation of centromeric heterochromatin" ], "gold_answer": "Abnormality of chromosome segregation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10845", "question": "What is associated with Decreased libido?", "seeds": [ "Decreased libido" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10846", "question": "What is associated with Perilobar nephroblastomatosis?", "seeds": [ "Perilobar nephroblastomatosis" ], "gold_answer": "Nephroblastomatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10847", "question": "What is associated with NKX6-2-related autosomal recessive hypomyelinating leukodystrophy?", "seeds": [ "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10848", "question": "What is associated with Brachyolmia type 1, Toledo type?", "seeds": [ "Brachyolmia type 1, Toledo type" ], "gold_answer": "Kyphosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10849", "question": "What is associated with 3-5 toe syndactyly?", "seeds": [ "3-5 toe syndactyly" ], "gold_answer": "Toe syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10850", "question": "What phenotype is associated with Brachyolmia type 1, Hobaek type?", "seeds": [ "Brachyolmia type 1, Hobaek type" ], "gold_answer": "Corneal opacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10851", "question": "What is associated with Abnormal zygomatic bone morphology?", "seeds": [ "Abnormal zygomatic bone morphology" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10852", "question": "What is associated with Abnormality of eye movement?", "seeds": [ "Abnormality of eye movement" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10853", "question": "What is associated with Alopecia, androgenetic, 1?", "seeds": [ "Alopecia, androgenetic, 1" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10854", "question": "What is associated with Symmetrical progressive peripheral demyelination?", "seeds": [ "Symmetrical progressive peripheral demyelination" ], "gold_answer": "Abnormal peripheral myelination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10855", "question": "What is associated with Abnormal peripheral nerve morphology by anatomical site?", "seeds": [ "Abnormal peripheral nerve morphology by anatomical site" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10856", "question": "What is associated with Elevated circulating proinsulin concentration?", "seeds": [ "Elevated circulating proinsulin concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10857", "question": "What is associated with Mesomelia-synostoses syndrome?", "seeds": [ "Mesomelia-synostoses syndrome" ], "gold_answer": "Deviation of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10858", "question": "What is associated with Achalasia-Microcephaly syndrome?", "seeds": [ "Achalasia-Microcephaly syndrome" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10859", "question": "What phenotype is associated with Specific language impairment 2?", "seeds": [ "Specific language impairment 2" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10860", "question": "What is associated with Profound?", "seeds": [ "Profound" ], "gold_answer": "Severity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10861", "question": "What is associated with Dementia, lewy body?", "seeds": [ "Dementia, lewy body" ], "gold_answer": "Abnormal cognitive process", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10862", "question": "What is associated with Bone marrow failure syndrome 3?", "seeds": [ "Bone marrow failure syndrome 3" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10863", "question": "What is associated with Absent isohemagglutinin level?", "seeds": [ "Absent isohemagglutinin level" ], "gold_answer": "Decreased circulating level of specific antibody", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10864", "question": "What is associated with Synostosis of joints?", "seeds": [ "Synostosis of joints" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10865", "question": "What is associated with Hair-pulling?", "seeds": [ "Hair-pulling" ], "gold_answer": "Self-injurious behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10866", "question": "What is associated with Diminished tissue dihydropteridine reductase activity?", "seeds": [ "Diminished tissue dihydropteridine reductase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10867", "question": "What is associated with Pituitary dwarfism?", "seeds": [ "Pituitary dwarfism" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10868", "question": "What is associated with Cervical ectropion?", "seeds": [ "Cervical ectropion" ], "gold_answer": "Abnormality of the uterus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10869", "question": "What phenotype is associated with SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC?", "seeds": [ "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC" ], "gold_answer": "Short neck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10870", "question": "What is associated with Vitreous haze?", "seeds": [ "Vitreous haze" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10871", "question": "What is associated with Increased mean platelet volume?", "seeds": [ "Increased mean platelet volume" ], "gold_answer": "Abnormal platelet morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10872", "question": "What is associated with Vasculitis, lymphocytic, nodular?", "seeds": [ "Vasculitis, lymphocytic, nodular" ], "gold_answer": "Vasculitis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10873", "question": "What is associated with Cerebrooculonasal syndrome?", "seeds": [ "Cerebrooculonasal syndrome" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10874", "question": "What is associated with Developmental stagnation?", "seeds": [ "Developmental stagnation" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10875", "question": "What is associated with Tooth agenesis, selective, X-linked, 1?", "seeds": [ "Tooth agenesis, selective, X-linked, 1" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10876", "question": "What is associated with Platelet factor 3 deficiency?", "seeds": [ "Platelet factor 3 deficiency" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10877", "question": "What is associated with Pseudodiastrophic dysplasia?", "seeds": [ "Pseudodiastrophic dysplasia" ], "gold_answer": "Abnormal maternal serum screening", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10878", "question": "What is associated with Sandal gap?", "seeds": [ "Sandal gap" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10879", "question": "What phenotype is associated with Neutropenia, severe congenital, 10, autosomal recessive?", "seeds": [ "Neutropenia, severe congenital, 10, autosomal recessive" ], "gold_answer": "Dysplastic granulopoesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10880", "question": "What is associated with Abnormal arcuate vein morphology?", "seeds": [ "Abnormal arcuate vein morphology" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10881", "question": "What is associated with Delayed closure of the anterior fontanelle?", "seeds": [ "Delayed closure of the anterior fontanelle" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10882", "question": "What phenotype is associated with Myoclonic epilepsy, familial infantile?", "seeds": [ "Myoclonic epilepsy, familial infantile" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10883", "question": "What is associated with Loose anagen hair?", "seeds": [ "Loose anagen hair" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10884", "question": "What is associated with Retinal microaneurysm?", "seeds": [ "Retinal microaneurysm" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10885", "question": "What phenotype is associated with Jacobsen syndrome?", "seeds": [ "Jacobsen syndrome" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10886", "question": "What phenotype is associated with NAIL LOW-SULFUR PROTEIN?", "seeds": [ "NAIL LOW-SULFUR PROTEIN" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10887", "question": "What is associated with Epidermal nevus?", "seeds": [ "Epidermal nevus" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10888", "question": "What is associated with Elevated urine erythritol level?", "seeds": [ "Elevated urine erythritol level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10889", "question": "What is associated with Small epiphyses?", "seeds": [ "Small epiphyses" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10890", "question": "What phenotype is associated with Myopathy, distal, infantile-onset?", "seeds": [ "Myopathy, distal, infantile-onset" ], "gold_answer": "Steppage gait", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10891", "question": "What is associated with Paroxysmal choreoathetosis?", "seeds": [ "Paroxysmal choreoathetosis" ], "gold_answer": "Chorea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10892", "question": "What is associated with Urethrocele?", "seeds": [ "Urethrocele" ], "gold_answer": "Abnormality of the lower urinary tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10893", "question": "What is associated with Glycogen storage disease due to muscle phosphofructokinase deficiency?", "seeds": [ "Glycogen storage disease due to muscle phosphofructokinase deficiency" ], "gold_answer": "Abnormal circulating nucleobase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10894", "question": "What is associated with Capillary malformation of the lip?", "seeds": [ "Capillary malformation of the lip" ], "gold_answer": "Vascular malformation of the lip", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10895", "question": "What is associated with Focal impaired awareness sensory seizure with gustatory features?", "seeds": [ "Focal impaired awareness sensory seizure with gustatory features" ], "gold_answer": "Focal impaired awareness sensory seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10896", "question": "What is associated with Microphthalmia, syndromic 6?", "seeds": [ "Microphthalmia, syndromic 6" ], "gold_answer": "Clinodactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10897", "question": "What phenotype is associated with Cone-Rod synaptic disorder, congenital nonprogressive?", "seeds": [ "Cone-Rod synaptic disorder, congenital nonprogressive" ], "gold_answer": "ERG: Reduced dark-adapted b-wave amplitude", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10898", "question": "What is associated with Idiopathic/heritable pulmonary arterial hypertension?", "seeds": [ "Idiopathic/heritable pulmonary arterial hypertension" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10899", "question": "What phenotype is associated with Warburg micro syndrome 4?", "seeds": [ "Warburg micro syndrome 4" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10900", "question": "What phenotype is associated with Lethal congenital contracture syndrome 7?", "seeds": [ "Lethal congenital contracture syndrome 7" ], "gold_answer": "Polyhydramnios", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10901", "question": "What is associated with Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency?", "seeds": [ "Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" ], "gold_answer": "Abnormality of circulating glucocorticoid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10902", "question": "What is associated with Abnormal conjunctiva morphology?", "seeds": [ "Abnormal conjunctiva morphology" ], "gold_answer": "Abnormality of the orbital region", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10903", "question": "What phenotype is associated with Chanarin-Dorfman syndrome?", "seeds": [ "Chanarin-Dorfman syndrome" ], "gold_answer": "Hypoplasia of penis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10904", "question": "What is associated with Femoral-facial syndrome?", "seeds": [ "Femoral-facial syndrome" ], "gold_answer": "Aplasia/Hypoplasia involving the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10905", "question": "What is associated with Ameliorated by vitamin D?", "seeds": [ "Ameliorated by vitamin D" ], "gold_answer": "Ameliorated by exposure to medication", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10906", "question": "What is associated with Endosteal hyperostosis, Worth type?", "seeds": [ "Endosteal hyperostosis, Worth type" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10907", "question": "What is associated with Noonan syndrome 14?", "seeds": [ "Noonan syndrome 14" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10908", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2B?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2B" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10909", "question": "What is associated with Distal arthrogryposis type 1?", "seeds": [ "Distal arthrogryposis type 1" ], "gold_answer": "MYBPC1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10910", "question": "What is associated with Familial Mediterranean fever, AR?", "seeds": [ "Familial Mediterranean fever, AR" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10911", "question": "What is associated with Tibialis anterior muscle atrophy?", "seeds": [ "Tibialis anterior muscle atrophy" ], "gold_answer": "Distal lower limb amyotrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10912", "question": "What is associated with Hepatorenocardiac degenerative fibrosis?", "seeds": [ "Hepatorenocardiac degenerative fibrosis" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10913", "question": "What is associated with Anesthetic-induced rhabdomylosis?", "seeds": [ "Anesthetic-induced rhabdomylosis" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10914", "question": "What phenotype is associated with Frontonasal dysplasia 2?", "seeds": [ "Frontonasal dysplasia 2" ], "gold_answer": "Craniosynostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10915", "question": "What is associated with Palmoplantar cutis gyrata?", "seeds": [ "Palmoplantar cutis gyrata" ], "gold_answer": "Abnormal skin morphology of the palm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10916", "question": "What phenotype is associated with Folate malabsorption, hereditary?", "seeds": [ "Folate malabsorption, hereditary" ], "gold_answer": "Folate-responsive megaloblastic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10917", "question": "What is associated with Limb-girdle muscular dystrophy due to POMK deficiency?", "seeds": [ "Limb-girdle muscular dystrophy due to POMK deficiency" ], "gold_answer": "POMK", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_10918", "question": "What is associated with Prominent protruding coccyx?", "seeds": [ "Prominent protruding coccyx" ], "gold_answer": "Abnormal coccyx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10919", "question": "What is associated with Duplication of the distal phalanx of the thumb?", "seeds": [ "Duplication of the distal phalanx of the thumb" ], "gold_answer": "Duplication of hand bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10920", "question": "What is associated with Tibial aplasia-ectrodactyly syndrome?", "seeds": [ "Tibial aplasia-ectrodactyly syndrome" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10921", "question": "What is associated with Simplified gyral pattern?", "seeds": [ "Simplified gyral pattern" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10922", "question": "What is associated with Cardiac lipoma?", "seeds": [ "Cardiac lipoma" ], "gold_answer": "Lipoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10923", "question": "What is associated with Marfanoid habitus-autosomal recessive intellectual disability syndrome?", "seeds": [ "Marfanoid habitus-autosomal recessive intellectual disability syndrome" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10924", "question": "What is associated with Idiopathic hypereosinophilic syndrome?", "seeds": [ "Idiopathic hypereosinophilic syndrome" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10925", "question": "What is associated with Asymmetry of the nares?", "seeds": [ "Asymmetry of the nares" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10926", "question": "What phenotype is associated with Seckel syndrome?", "seeds": [ "Seckel syndrome" ], "gold_answer": "Cachexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10927", "question": "What is associated with Congenital thrombotic thrombocytopenic purpura?", "seeds": [ "Congenital thrombotic thrombocytopenic purpura" ], "gold_answer": "ADAMTS13", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_10928", "question": "What is associated with Hyperglycinuria?", "seeds": [ "Hyperglycinuria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10929", "question": "What phenotype is associated with Hypomandibular faciocranial dysostosis?", "seeds": [ "Hypomandibular faciocranial dysostosis" ], "gold_answer": "Aplasia/Hypoplasia of the tongue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10930", "question": "What is associated with TYROSINOSIS?", "seeds": [ "TYROSINOSIS" ], "gold_answer": "Abnormal circulating aromatic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10931", "question": "What is associated with Pseudoepiphyses of the phalanges of the hand?", "seeds": [ "Pseudoepiphyses of the phalanges of the hand" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10932", "question": "What phenotype is associated with Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis?", "seeds": [ "Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10933", "question": "What is associated with Spleen hamartoma?", "seeds": [ "Spleen hamartoma" ], "gold_answer": "Hamartoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10934", "question": "What is associated with Eosinophil nuclear hypersegmentation?", "seeds": [ "Eosinophil nuclear hypersegmentation" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10935", "question": "What is associated with Intestinal dysmotility syndrome?", "seeds": [ "Intestinal dysmotility syndrome" ], "gold_answer": "Abnormality of the amniotic fluid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10936", "question": "What is associated with Bowed humerus?", "seeds": [ "Bowed humerus" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10937", "question": "What is associated with Ring chromosome 13 syndrome?", "seeds": [ "Ring chromosome 13 syndrome" ], "gold_answer": "Thin corpus callosum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10938", "question": "What is associated with Irregular epiphyses of the 3rd finger?", "seeds": [ "Irregular epiphyses of the 3rd finger" ], "gold_answer": "Irregular epiphyses of the upper limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10939", "question": "What is associated with Elevated circulating aspartate aminotransferase concentration?", "seeds": [ "Elevated circulating aspartate aminotransferase concentration" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10940", "question": "What is associated with Squamous metaplasia?", "seeds": [ "Squamous metaplasia" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10941", "question": "What is associated with Elevated urinary N-tau-ribosylhistidine level?", "seeds": [ "Elevated urinary N-tau-ribosylhistidine level" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10942", "question": "What is associated with Melanoma-Astrocytoma syndrome?", "seeds": [ "Melanoma-Astrocytoma syndrome" ], "gold_answer": "Malignant neoplasm of the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10943", "question": "What is associated with Right ventricular regional wall motion abnormality?", "seeds": [ "Right ventricular regional wall motion abnormality" ], "gold_answer": "Abnormal right ventricular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10944", "question": "What phenotype is associated with Epilepsy, nocturnal frontal lobe, type 1?", "seeds": [ "Epilepsy, nocturnal frontal lobe, type 1" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10945", "question": "What is associated with Highly arched eyebrow?", "seeds": [ "Highly arched eyebrow" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10946", "question": "What phenotype is associated with Congenital dyserythropoietic anemia type III?", "seeds": [ "Congenital dyserythropoietic anemia type III" ], "gold_answer": "Abnormal proerythroblast morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10947", "question": "What phenotype is associated with Immunodeficiency 131?", "seeds": [ "Immunodeficiency 131" ], "gold_answer": "Recurrent sinusitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10948", "question": "What is associated with Reduced epidermal collagen XVII protein expression?", "seeds": [ "Reduced epidermal collagen XVII protein expression" ], "gold_answer": "Abnormal epidermal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10949", "question": "What is associated with Abnormal timing of light-adapted single flash electroretinogram?", "seeds": [ "Abnormal timing of light-adapted single flash electroretinogram" ], "gold_answer": "Abnormal full-field electroretinogram", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10950", "question": "What is associated with Prolactinoma?", "seeds": [ "Prolactinoma" ], "gold_answer": "Decreased response to growth hormone stimulation test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10951", "question": "What is associated with Patchy sclerosis of thumb phalanx?", "seeds": [ "Patchy sclerosis of thumb phalanx" ], "gold_answer": "Increased bone mineral density", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10952", "question": "What is associated with Placental infarction?", "seeds": [ "Placental infarction" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10953", "question": "What is associated with MBD4-related tumor predisposition syndrome?", "seeds": [ "MBD4-related tumor predisposition syndrome" ], "gold_answer": "MBD4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10954", "question": "What is associated with Sex-limited expression?", "seeds": [ "Sex-limited expression" ], "gold_answer": "Inheritance qualifier", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10955", "question": "What phenotype is associated with Cardiomyopathy, dilated, 1D?", "seeds": [ "Cardiomyopathy, dilated, 1D" ], "gold_answer": "Incomplete right bundle branch block", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10956", "question": "What is associated with Broad forearm bones?", "seeds": [ "Broad forearm bones" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10957", "question": "What is associated with White appearance of duodenal mucosa?", "seeds": [ "White appearance of duodenal mucosa" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10958", "question": "What is associated with Bracket metacarpal epiphyses?", "seeds": [ "Bracket metacarpal epiphyses" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10959", "question": "What is associated with Grade V vesicoureteral reflux?", "seeds": [ "Grade V vesicoureteral reflux" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10960", "question": "What phenotype is associated with Prenatal bowing?", "seeds": [ "Prenatal bowing" ], "gold_answer": "Bowing of the long bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10961", "question": "What phenotype is associated with Adult intestinal botulism?", "seeds": [ "Adult intestinal botulism" ], "gold_answer": "Cerebral palsy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10962", "question": "What is associated with Greater auricular nerve thickening?", "seeds": [ "Greater auricular nerve thickening" ], "gold_answer": "Abnormal great auricular nerve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10963", "question": "What is associated with Small epiphyses of the metacarpals?", "seeds": [ "Small epiphyses of the metacarpals" ], "gold_answer": "Abnormal hand epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10964", "question": "What is associated with Anti-Bartonella henselae antibody positivity?", "seeds": [ "Anti-Bartonella henselae antibody positivity" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10965", "question": "What is associated with Broad phalanges of the 3rd finger?", "seeds": [ "Broad phalanges of the 3rd finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10966", "question": "What is associated with Osteosarcoma?", "seeds": [ "Osteosarcoma" ], "gold_answer": "Abnormality of globe location", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10967", "question": "What is associated with Congenital hydrocele?", "seeds": [ "Congenital hydrocele" ], "gold_answer": "Hydrocele testis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10968", "question": "What phenotype is associated with Vesicoureteral reflux 2?", "seeds": [ "Vesicoureteral reflux 2" ], "gold_answer": "Renal hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10969", "question": "What is associated with Encephalopathy, acute, infection-induced, susceptibility to, 9?", "seeds": [ "Encephalopathy, acute, infection-induced, susceptibility to, 9" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10970", "question": "What is associated with Deafness, autosomal recessive 125?", "seeds": [ "Deafness, autosomal recessive 125" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10971", "question": "What is associated with Osteolytic defects of the phalanges of the hallux?", "seeds": [ "Osteolytic defects of the phalanges of the hallux" ], "gold_answer": "Abnormal hallux phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10972", "question": "What is associated with Undetectable light- and dark-adapted electroretinogram?", "seeds": [ "Undetectable light- and dark-adapted electroretinogram" ], "gold_answer": "Abnormal light- and dark-adapted electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10973", "question": "What is associated with Diamond-Blackfan anemia 11?", "seeds": [ "Diamond-Blackfan anemia 11" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10974", "question": "What is associated with KELOIDS?", "seeds": [ "KELOIDS" ], "gold_answer": "Atypical scarring of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10975", "question": "What is associated with Thoracoabdominal ectopia cordis?", "seeds": [ "Thoracoabdominal ectopia cordis" ], "gold_answer": "Ectopia cordis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10976", "question": "What is associated with Common variable immunodeficiency phenotype due to homozygous TACI deficiency?", "seeds": [ "Common variable immunodeficiency phenotype due to homozygous TACI deficiency" ], "gold_answer": "TNFRSF13B", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_10977", "question": "What is associated with Hepatorenocardiac degenerative fibrosis?", "seeds": [ "Hepatorenocardiac degenerative fibrosis" ], "gold_answer": "Hepatic fibrosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10978", "question": "What is associated with Aplasia of the optic tract?", "seeds": [ "Aplasia of the optic tract" ], "gold_answer": "Aplasia/Hypoplasia of the optic tract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10979", "question": "What phenotype is associated with Deafness, autosomal recessive 21?", "seeds": [ "Deafness, autosomal recessive 21" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10980", "question": "What is associated with Pseudoepiphysis of the 5th metacarpal?", "seeds": [ "Pseudoepiphysis of the 5th metacarpal" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10981", "question": "What is associated with Slender forearm bones?", "seeds": [ "Slender forearm bones" ], "gold_answer": "Abnormal forearm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10982", "question": "What is associated with Arcuate artery endoarterial foam cell hypercellularity?", "seeds": [ "Arcuate artery endoarterial foam cell hypercellularity" ], "gold_answer": "Arcuate artery endoarterial leukocyte hypercellularity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10983", "question": "What is associated with Aortic aneurysm, familial thoracic 11, susceptibility to?", "seeds": [ "Aortic aneurysm, familial thoracic 11, susceptibility to" ], "gold_answer": "Vascular dilatation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10984", "question": "What is associated with Abnormal erythrocyte physiology?", "seeds": [ "Abnormal erythrocyte physiology" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10985", "question": "What phenotype is associated with Platelet disorder, familial, with associated myeloid malignancy?", "seeds": [ "Platelet disorder, familial, with associated myeloid malignancy" ], "gold_answer": "Petechiae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10986", "question": "What is associated with Anti-Zinc transporter 8 antibody positivity?", "seeds": [ "Anti-Zinc transporter 8 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10987", "question": "What is associated with Esophageal leukoplakia?", "seeds": [ "Esophageal leukoplakia" ], "gold_answer": "Abnormal esophagus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_10988", "question": "What is associated with 3-methylglutaconic aciduria, type III?", "seeds": [ "3-methylglutaconic aciduria, type III" ], "gold_answer": "Abnormal pyramidal sign", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10989", "question": "What is associated with Abnormal tongue physiology?", "seeds": [ "Abnormal tongue physiology" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10990", "question": "What phenotype is associated with Spastic paraplegia 84, autosomal recessive?", "seeds": [ "Spastic paraplegia 84, autosomal recessive" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10991", "question": "What phenotype is associated with Pituitary adenoma 5, multiple types?", "seeds": [ "Pituitary adenoma 5, multiple types" ], "gold_answer": "Pituitary adenoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10992", "question": "What is associated with Abnormality of the urinary system physiology?", "seeds": [ "Abnormality of the urinary system physiology" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10993", "question": "What is associated with Sneddon syndrome?", "seeds": [ "Sneddon syndrome" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10994", "question": "What is associated with Meier-Gorlin syndrome 5?", "seeds": [ "Meier-Gorlin syndrome 5" ], "gold_answer": "Abnormal elbow physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10995", "question": "What is associated with Autosomal dominant spastic paraplegia type 73?", "seeds": [ "Autosomal dominant spastic paraplegia type 73" ], "gold_answer": "Abnormal corticospinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10996", "question": "What phenotype is associated with Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8?", "seeds": [ "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_10997", "question": "What is associated with HbH hemoglobin?", "seeds": [ "HbH hemoglobin" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_10998", "question": "What is associated with Focal impaired awareness pedal automatism seizure?", "seeds": [ "Focal impaired awareness pedal automatism seizure" ], "gold_answer": "Focal impaired awareness motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_10999", "question": "What is associated with Absent earlobe?", "seeds": [ "Absent earlobe" ], "gold_answer": "Aplasia/Hypoplasia of the earlobes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11000", "question": "What is associated with Koeppe nodules?", "seeds": [ "Koeppe nodules" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11001", "question": "What phenotype is associated with Heterotaxy, visceral, 10, autosomal, with male infertility?", "seeds": [ "Heterotaxy, visceral, 10, autosomal, with male infertility" ], "gold_answer": "Cough", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11002", "question": "What is associated with Acute basophilic leukemia?", "seeds": [ "Acute basophilic leukemia" ], "gold_answer": "GATA1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_11003", "question": "What phenotype is associated with Calciphylaxis?", "seeds": [ "Calciphylaxis" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11004", "question": "What is associated with Skin fragility with non-scarring blistering?", "seeds": [ "Skin fragility with non-scarring blistering" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11005", "question": "What is associated with Bracket epiphysis of the distal phalanx of the 4th finger?", "seeds": [ "Bracket epiphysis of the distal phalanx of the 4th finger" ], "gold_answer": "Abnormal distal phalanx morphology of finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11006", "question": "What is associated with Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements?", "seeds": [ "Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements" ], "gold_answer": "Unusual infection by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11007", "question": "What is associated with Elevated urinary collagen degradation products?", "seeds": [ "Elevated urinary collagen degradation products" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11008", "question": "What is associated with Thenar muscle atrophy?", "seeds": [ "Thenar muscle atrophy" ], "gold_answer": "Distal upper limb amyotrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11009", "question": "What is associated with High urinary gonadotropin level?", "seeds": [ "High urinary gonadotropin level" ], "gold_answer": "Abnormal urine hormone level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11010", "question": "What phenotype is associated with Bruck syndrome 2?", "seeds": [ "Bruck syndrome 2" ], "gold_answer": "Flexion contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11011", "question": "What is associated with Uterine leiomyosarcoma?", "seeds": [ "Uterine leiomyosarcoma" ], "gold_answer": "Uterine neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11012", "question": "What is associated with Cutis laxa, autosomal recessive, type IIIB?", "seeds": [ "Cutis laxa, autosomal recessive, type IIIB" ], "gold_answer": "Abnormal nasal dorsum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11013", "question": "What is associated with Prenatal benign hypophosphatasia?", "seeds": [ "Prenatal benign hypophosphatasia" ], "gold_answer": "ALPL", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_11014", "question": "What phenotype is associated with Arrhythmogenic right ventricular dysplasia 1?", "seeds": [ "Arrhythmogenic right ventricular dysplasia 1" ], "gold_answer": "Sudden cardiac death", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11015", "question": "What is associated with Supernormal dark-adapted bright flash electroretinogram b-wave?", "seeds": [ "Supernormal dark-adapted bright flash electroretinogram b-wave" ], "gold_answer": "Abnormal dark-adapted electroretinogram", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11016", "question": "What is associated with Antidromic atrioventricular reentrant tachycardia?", "seeds": [ "Antidromic atrioventricular reentrant tachycardia" ], "gold_answer": "Atrioventricular reentrant tachycardia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11017", "question": "What is associated with Absent soft palate?", "seeds": [ "Absent soft palate" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11018", "question": "What is associated with Abnormal cardiac septum morphology?", "seeds": [ "Abnormal cardiac septum morphology" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11019", "question": "What is associated with PR segment elevation?", "seeds": [ "PR segment elevation" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11020", "question": "What phenotype is associated with Insulinomatosis and diabetes mellitus?", "seeds": [ "Insulinomatosis and diabetes mellitus" ], "gold_answer": "Insulinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11021", "question": "What is associated with BCGitis?", "seeds": [ "BCGitis" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11022", "question": "What is associated with Advanced ossification of carpal bones?", "seeds": [ "Advanced ossification of carpal bones" ], "gold_answer": "Abnormality of carpal bone ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11023", "question": "What is associated with Chronic decreased circulating IgG3?", "seeds": [ "Chronic decreased circulating IgG3" ], "gold_answer": "Decreased circulating IgG subclass concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11024", "question": "What is associated with Long QT syndrome 16?", "seeds": [ "Long QT syndrome 16" ], "gold_answer": "Abnormal QT interval", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11025", "question": "What is associated with Schisis association?", "seeds": [ "Schisis association" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11026", "question": "What phenotype is associated with Alexander disease type II?", "seeds": [ "Alexander disease type II" ], "gold_answer": "Sleep abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11027", "question": "What phenotype is associated with Dystonia with cerebellar atrophy?", "seeds": [ "Dystonia with cerebellar atrophy" ], "gold_answer": "Gaze-evoked horizontal nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11028", "question": "What is associated with 3-M syndrome 3?", "seeds": [ "3-M syndrome 3" ], "gold_answer": "Abnormality of the cervical spine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11029", "question": "What is associated with Abnormal 2nd toe phalanx morphology?", "seeds": [ "Abnormal 2nd toe phalanx morphology" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11030", "question": "What is associated with Deafness, autosomal dominant nonsyndromic sensorineural 11?", "seeds": [ "Deafness, autosomal dominant nonsyndromic sensorineural 11" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11031", "question": "What is associated with Fungi allergy?", "seeds": [ "Fungi allergy" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11032", "question": "What is associated with Low-frequency sensorineural hearing impairment?", "seeds": [ "Low-frequency sensorineural hearing impairment" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11033", "question": "What is associated with Reduced epidermal keratin protein expression?", "seeds": [ "Reduced epidermal keratin protein expression" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11034", "question": "What is associated with Broad middle phalanx of the 5th toe?", "seeds": [ "Broad middle phalanx of the 5th toe" ], "gold_answer": "Abnormal fifth toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11035", "question": "What phenotype is associated with HNF1B-related autosomal dominant tubulointerstitial kidney disease?", "seeds": [ "HNF1B-related autosomal dominant tubulointerstitial kidney disease" ], "gold_answer": "Horseshoe kidney", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11036", "question": "What is associated with Nephronophthisis 11?", "seeds": [ "Nephronophthisis 11" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11037", "question": "What is associated with Decreased circulating alpha-mannosidase activity?", "seeds": [ "Decreased circulating alpha-mannosidase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11038", "question": "What is associated with Pinhole visual acuity 1.2 LogMAR?", "seeds": [ "Pinhole visual acuity 1.2 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11039", "question": "What is associated with Familial thoracic aortic aneurysm and aortic dissection?", "seeds": [ "Familial thoracic aortic aneurysm and aortic dissection" ], "gold_answer": "Narrow palate", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11040", "question": "What is associated with Generalized muscle weakness?", "seeds": [ "Generalized muscle weakness" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11041", "question": "What is associated with Perivascular myocardial immune cell infiltration?", "seeds": [ "Perivascular myocardial immune cell infiltration" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11042", "question": "What is associated with Abnormality of the nervous system?", "seeds": [ "Abnormality of the nervous system" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11043", "question": "What phenotype is associated with Lead poisoning?", "seeds": [ "Lead poisoning" ], "gold_answer": "Preeclampsia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11044", "question": "What is associated with Hypoglycemic seizures?", "seeds": [ "Hypoglycemic seizures" ], "gold_answer": "Hypoglycemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11045", "question": "What is associated with Follicular hyperplasia?", "seeds": [ "Follicular hyperplasia" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11046", "question": "What is associated with 19p13.12 microdeletion syndrome?", "seeds": [ "19p13.12 microdeletion syndrome" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11047", "question": "What is associated with Horner syndrome?", "seeds": [ "Horner syndrome" ], "gold_answer": "Abnormality of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11048", "question": "What is associated with Congenital cataracts-facial dysmorphism-neuropathy syndrome?", "seeds": [ "Congenital cataracts-facial dysmorphism-neuropathy syndrome" ], "gold_answer": "Abnormal nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11049", "question": "What phenotype is associated with Atrichia with papular lesions?", "seeds": [ "Atrichia with papular lesions" ], "gold_answer": "Generalized papillary lesions", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11050", "question": "What is associated with Glutaricaciduria, type I?", "seeds": [ "Glutaricaciduria, type I" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11051", "question": "What is associated with Male urethral meatus stenosis?", "seeds": [ "Male urethral meatus stenosis" ], "gold_answer": "Abnormal male urethral meatus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11052", "question": "What is associated with Hypercitraturia?", "seeds": [ "Hypercitraturia" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11053", "question": "What is associated with Maintenance insomnia?", "seeds": [ "Maintenance insomnia" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11054", "question": "What is associated with Leucine crystalluria?", "seeds": [ "Leucine crystalluria" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11055", "question": "What is associated with Stage 3 chronic kidney disease?", "seeds": [ "Stage 3 chronic kidney disease" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11056", "question": "What phenotype is associated with Graves disease?", "seeds": [ "Graves disease" ], "gold_answer": "Onycholysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11057", "question": "What phenotype is associated with Microcephaly 8, primary, autosomal recessive?", "seeds": [ "Microcephaly 8, primary, autosomal recessive" ], "gold_answer": "Severe intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11058", "question": "What is associated with Abnormal 5th finger morphology?", "seeds": [ "Abnormal 5th finger morphology" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11059", "question": "What is associated with Type II lissencephaly?", "seeds": [ "Type II lissencephaly" ], "gold_answer": "Lissencephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11060", "question": "What phenotype is associated with Amyotrophic lateral sclerosis 4, juvenile?", "seeds": [ "Amyotrophic lateral sclerosis 4, juvenile" ], "gold_answer": "Babinski sign", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11061", "question": "What is associated with Tuberous sclerosis complex?", "seeds": [ "Tuberous sclerosis complex" ], "gold_answer": "Fibrous tissue neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11062", "question": "What is associated with Congenital microcoria?", "seeds": [ "Congenital microcoria" ], "gold_answer": "Asymmetry of intraocular pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11063", "question": "What is associated with Multicentric osteolysis-nodulosis-arthropathy spectrum?", "seeds": [ "Multicentric osteolysis-nodulosis-arthropathy spectrum" ], "gold_answer": "Abnormal aortic arch morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11064", "question": "What is associated with Cardiomyopathy, dilated, 2H?", "seeds": [ "Cardiomyopathy, dilated, 2H" ], "gold_answer": "Respiratory arrest", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11065", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 67?", "seeds": [ "Autosomal recessive spastic paraplegia type 67" ], "gold_answer": "Aplasia/Hypoplasia of the cerebellar vermis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11066", "question": "What is associated with Abnormal vestibular saccule morphology?", "seeds": [ "Abnormal vestibular saccule morphology" ], "gold_answer": "Abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11067", "question": "What is associated with Increased size of the clitoris?", "seeds": [ "Increased size of the clitoris" ], "gold_answer": "Abnormal clitoris morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11068", "question": "What is associated with Mottled pigmentation of photoexposed areas?", "seeds": [ "Mottled pigmentation of photoexposed areas" ], "gold_answer": "Mottled pigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11069", "question": "What phenotype is associated with Periventricular nodular heterotopia 9?", "seeds": [ "Periventricular nodular heterotopia 9" ], "gold_answer": "Unilateral conductive hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11070", "question": "What is associated with Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome?", "seeds": [ "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" ], "gold_answer": "Palmoplantar hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11071", "question": "What is associated with Aplasia/Hypoplasia of the 4th toe?", "seeds": [ "Aplasia/Hypoplasia of the 4th toe" ], "gold_answer": "Absent toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11072", "question": "What is associated with Dysorthography?", "seeds": [ "Dysorthography" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11073", "question": "What is associated with Small epiphysis of the proximal phalanx of the 3rd finger?", "seeds": [ "Small epiphysis of the proximal phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the epiphyses of the proximal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11074", "question": "What is associated with Increased CSF threonine concentration?", "seeds": [ "Increased CSF threonine concentration" ], "gold_answer": "Abnormal CSF threonine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11075", "question": "What is associated with Abnormal circulating insulin concentration?", "seeds": [ "Abnormal circulating insulin concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11076", "question": "What is associated with Bile acid conjugation defect 1?", "seeds": [ "Bile acid conjugation defect 1" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11077", "question": "What is associated with Alopecia-intellectual disability syndrome 4?", "seeds": [ "Alopecia-intellectual disability syndrome 4" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11078", "question": "What is associated with Positive urine opioid test?", "seeds": [ "Positive urine opioid test" ], "gold_answer": "Urine xenobiotic", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11079", "question": "What is associated with Positive tuberculin skin test?", "seeds": [ "Positive tuberculin skin test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11080", "question": "What is associated with Chilblains?", "seeds": [ "Chilblains" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11081", "question": "What is associated with Distal widening of metacarpals?", "seeds": [ "Distal widening of metacarpals" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11082", "question": "What is associated with Alcohol sensitivity, acute?", "seeds": [ "Alcohol sensitivity, acute" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11083", "question": "What phenotype is associated with 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency?", "seeds": [ "46,XY difference of sex development due to 5-alpha-reductase 2 deficiency" ], "gold_answer": "Small scrotum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11084", "question": "What is associated with Uruguay faciocardiomusculoskeletal syndrome?", "seeds": [ "Uruguay faciocardiomusculoskeletal syndrome" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11085", "question": "What is associated with Superior rib anomalies?", "seeds": [ "Superior rib anomalies" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11086", "question": "What is associated with Cutaneous anergy?", "seeds": [ "Cutaneous anergy" ], "gold_answer": "Abnormal T cell physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11087", "question": "What is associated with Non-polarized lymph node germinal centers?", "seeds": [ "Non-polarized lymph node germinal centers" ], "gold_answer": "Abnormal lymph-node tissue architecture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11088", "question": "What is associated with Type 1 congenital pulmonary airway malformation?", "seeds": [ "Type 1 congenital pulmonary airway malformation" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11089", "question": "What is associated with Esophageal web?", "seeds": [ "Esophageal web" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11090", "question": "What phenotype is associated with Maternal uniparental disomy of chromosome 2 syndrome?", "seeds": [ "Maternal uniparental disomy of chromosome 2 syndrome" ], "gold_answer": "Renal hypoplasia/aplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11091", "question": "What is associated with Bartter syndrome, type 1, antenatal?", "seeds": [ "Bartter syndrome, type 1, antenatal" ], "gold_answer": "Abnormality of the parathyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11092", "question": "What is associated with Limb apraxia?", "seeds": [ "Limb apraxia" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11093", "question": "What phenotype is associated with Craniotubular dysplasia, Ikegawa type?", "seeds": [ "Craniotubular dysplasia, Ikegawa type" ], "gold_answer": "Broad ischia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11094", "question": "What is associated with Intervertebral disk calcification?", "seeds": [ "Intervertebral disk calcification" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11095", "question": "What is associated with Ectopic ureteral orifice?", "seeds": [ "Ectopic ureteral orifice" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11096", "question": "What is associated with Meningocele?", "seeds": [ "Meningocele" ], "gold_answer": "Closed neural tube defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11097", "question": "What is associated with Dilatation of celiac artery?", "seeds": [ "Dilatation of celiac artery" ], "gold_answer": "Dilatation of an abdominal artery", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11098", "question": "What phenotype is associated with Congenital respiratory-biliary fistula?", "seeds": [ "Congenital respiratory-biliary fistula" ], "gold_answer": "Tracheal stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11099", "question": "What is associated with Focal cortical dysplasia type II?", "seeds": [ "Focal cortical dysplasia type II" ], "gold_answer": "Cortical dysplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11100", "question": "What is associated with Abnormal brainstem morphology?", "seeds": [ "Abnormal brainstem morphology" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11101", "question": "What phenotype is associated with Lethal congenital contracture syndrome 1?", "seeds": [ "Lethal congenital contracture syndrome 1" ], "gold_answer": "Hypoplasia of the musculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11102", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the 2nd toe?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the 2nd toe" ], "gold_answer": "Sclerosis of proximal phalanx of toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11103", "question": "What is associated with Intermittent hyperventilation?", "seeds": [ "Intermittent hyperventilation" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11104", "question": "What is associated with Combined immunodeficiency-multiple intestinal atresia?", "seeds": [ "Combined immunodeficiency-multiple intestinal atresia" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11105", "question": "What is associated with Abnormality of the respiratory system?", "seeds": [ "Abnormality of the respiratory system" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11106", "question": "What is associated with Abnormal circulating nitrogen compound concentration?", "seeds": [ "Abnormal circulating nitrogen compound concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11107", "question": "What is associated with Abnormal nasal bone morphology?", "seeds": [ "Abnormal nasal bone morphology" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11108", "question": "What is associated with Tenesmus?", "seeds": [ "Tenesmus" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11109", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 2?", "seeds": [ "Ciliary dyskinesia, primary, 2" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11110", "question": "What is associated with Seckel syndrome 6?", "seeds": [ "Seckel syndrome 6" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11111", "question": "What is associated with Desmoplastic/nodular medulloblastoma?", "seeds": [ "Desmoplastic/nodular medulloblastoma" ], "gold_answer": "SUFU", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_11112", "question": "What is associated with Spheroid bodies?", "seeds": [ "Spheroid bodies" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11113", "question": "What phenotype is associated with Anemia, sideroblastic, X-linked?", "seeds": [ "Anemia, sideroblastic, X-linked" ], "gold_answer": "Hypochromic microcytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11114", "question": "What is associated with Penile freckling?", "seeds": [ "Penile freckling" ], "gold_answer": "Abnormal penis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11115", "question": "What is associated with Cone-shaped epiphysis of the 1st metacarpal?", "seeds": [ "Cone-shaped epiphysis of the 1st metacarpal" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11116", "question": "What is associated with Anotia?", "seeds": [ "Anotia" ], "gold_answer": "Aplasia/Hypoplasia of the external ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11117", "question": "What is associated with Complete duplication of the proximal phalanx of the 2nd toe?", "seeds": [ "Complete duplication of the proximal phalanx of the 2nd toe" ], "gold_answer": "Complete duplication of the phalanges of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11118", "question": "What phenotype is associated with Osteogenesis imperfecta, type IX?", "seeds": [ "Osteogenesis imperfecta, type IX" ], "gold_answer": "Hyperextensibility at elbow", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11119", "question": "What is associated with Craniosynostosis with fibular aplasia?", "seeds": [ "Craniosynostosis with fibular aplasia" ], "gold_answer": "Abnormal fibula morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11120", "question": "What is associated with Elongated femoral neck?", "seeds": [ "Elongated femoral neck" ], "gold_answer": "Abnormal femoral neck morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11121", "question": "What is associated with Abnormality of the extraocular muscles?", "seeds": [ "Abnormality of the extraocular muscles" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11122", "question": "What is associated with Spoken word recognition deficit?", "seeds": [ "Spoken word recognition deficit" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11123", "question": "What is associated with Tetany?", "seeds": [ "Tetany" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11124", "question": "What is associated with Chromosome 22q11.2 deletion syndrome, distal?", "seeds": [ "Chromosome 22q11.2 deletion syndrome, distal" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11125", "question": "What is associated with Spermatogenic failure 92?", "seeds": [ "Spermatogenic failure 92" ], "gold_answer": "Decreased fertility in males", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11126", "question": "What is associated with Reduced euglobulin clot lysis time?", "seeds": [ "Reduced euglobulin clot lysis time" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11127", "question": "What is associated with Absent cervical vertebra?", "seeds": [ "Absent cervical vertebra" ], "gold_answer": "Aplasia/Hypoplasia of the vertebrae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11128", "question": "What is associated with Anauxetic dysplasia 2?", "seeds": [ "Anauxetic dysplasia 2" ], "gold_answer": "Macrocephaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11129", "question": "What is associated with Sertoli cell hyperplasia?", "seeds": [ "Sertoli cell hyperplasia" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11130", "question": "What is associated with Anemia, dyserythropoietic congenital, type IV?", "seeds": [ "Anemia, dyserythropoietic congenital, type IV" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11131", "question": "What is associated with Bilateral superior vena cava with no bridging vein?", "seeds": [ "Bilateral superior vena cava with no bridging vein" ], "gold_answer": "Persistent left superior vena cava", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11132", "question": "What is associated with Sinus bradycardia?", "seeds": [ "Sinus bradycardia" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11133", "question": "What is associated with Enlarged humeral metaphyses?", "seeds": [ "Enlarged humeral metaphyses" ], "gold_answer": "Abnormal upper limb metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11134", "question": "What is associated with Wieacker-Wolff syndrome?", "seeds": [ "Wieacker-Wolff syndrome" ], "gold_answer": "Limb joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11135", "question": "What phenotype is associated with Congenital myopathy 18 due to dihydropyridine receptor defect?", "seeds": [ "Congenital myopathy 18 due to dihydropyridine receptor defect" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11136", "question": "What is associated with Wet voice?", "seeds": [ "Wet voice" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11137", "question": "What is associated with Exercise-induced muscle cramps?", "seeds": [ "Exercise-induced muscle cramps" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11138", "question": "What is associated with Absent proximal phalanx of thumb?", "seeds": [ "Absent proximal phalanx of thumb" ], "gold_answer": "Aplasia/Hypoplasia of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11139", "question": "What is associated with Autosomal dominant prognathism?", "seeds": [ "Autosomal dominant prognathism" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11140", "question": "What is associated with Hypoornithinemia?", "seeds": [ "Hypoornithinemia" ], "gold_answer": "Abnormal circulating non-proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11141", "question": "What is associated with Epidermolysis bullosa pruriginosa?", "seeds": [ "Epidermolysis bullosa pruriginosa" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11142", "question": "What is associated with Membranous vitreous appearance?", "seeds": [ "Membranous vitreous appearance" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11143", "question": "What phenotype is associated with Insulinoma?", "seeds": [ "Insulinoma" ], "gold_answer": "Hypokalemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11144", "question": "What is associated with Positive urine cocaine test?", "seeds": [ "Positive urine cocaine test" ], "gold_answer": "Urine xenobiotic", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11145", "question": "What is associated with Schwannomatosis?", "seeds": [ "Schwannomatosis" ], "gold_answer": "Central hypothyroidism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11146", "question": "What is associated with Rabson-Mendenhall syndrome?", "seeds": [ "Rabson-Mendenhall syndrome" ], "gold_answer": "Increased size of the clitoris", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11147", "question": "What is associated with Broad phalanx?", "seeds": [ "Broad phalanx" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11148", "question": "What is associated with Progressive flexion contractures?", "seeds": [ "Progressive flexion contractures" ], "gold_answer": "Flexion contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11149", "question": "What is associated with Asymmetrical gluteal crease?", "seeds": [ "Asymmetrical gluteal crease" ], "gold_answer": "Abnormality of the musculature of the lower limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11150", "question": "What is associated with Limited shoulder internal rotation?", "seeds": [ "Limited shoulder internal rotation" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11151", "question": "What is associated with Sclerosis of the distal phalanx of the 4th finger?", "seeds": [ "Sclerosis of the distal phalanx of the 4th finger" ], "gold_answer": "Sclerosis of 4th finger phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11152", "question": "What is associated with Abnormal morphology of the proximal phalanx of the hallux?", "seeds": [ "Abnormal morphology of the proximal phalanx of the hallux" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11153", "question": "What is associated with Clinodactyly?", "seeds": [ "Clinodactyly" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11154", "question": "What is associated with Recurrent bacterial vaginosis?", "seeds": [ "Recurrent bacterial vaginosis" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11155", "question": "What is associated with Iris cyst?", "seeds": [ "Iris cyst" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11156", "question": "What is associated with Abnormality of glycosaminoglycan metabolism?", "seeds": [ "Abnormality of glycosaminoglycan metabolism" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11157", "question": "What phenotype is associated with Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2?", "seeds": [ "Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2" ], "gold_answer": "Amelogenesis imperfecta", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11158", "question": "What is associated with Decreased nerve conduction velocity?", "seeds": [ "Decreased nerve conduction velocity" ], "gold_answer": "Abnormality of peripheral nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11159", "question": "What is associated with CD38 expression?", "seeds": [ "CD38 expression" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11160", "question": "What is associated with Abnormal circulating inhibin B concentration?", "seeds": [ "Abnormal circulating inhibin B concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11161", "question": "What is associated with Bothnia retinal dystrophy?", "seeds": [ "Bothnia retinal dystrophy" ], "gold_answer": "Visual loss", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11162", "question": "What is associated with Microcephalic osteodysplastic primordial dwarfism, type II?", "seeds": [ "Microcephalic osteodysplastic primordial dwarfism, type II" ], "gold_answer": "Short phalanx of the thumb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11163", "question": "What is associated with Nephrotic syndrome, type 4?", "seeds": [ "Nephrotic syndrome, type 4" ], "gold_answer": "Glomerular sclerosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11164", "question": "What is associated with Complete congenital stationary night blindness, Schubert-Bornschein type?", "seeds": [ "Complete congenital stationary night blindness, Schubert-Bornschein type" ], "gold_answer": "TRPM1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_11165", "question": "What is associated with Positive respiratory tract infectious agent test?", "seeds": [ "Positive respiratory tract infectious agent test" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11166", "question": "What phenotype is associated with Turnpenny-Fry syndrome?", "seeds": [ "Turnpenny-Fry syndrome" ], "gold_answer": "Constipation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11167", "question": "What is associated with Complete duplication of the phalanges of the 2nd toe?", "seeds": [ "Complete duplication of the phalanges of the 2nd toe" ], "gold_answer": "Abnormal second toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11168", "question": "What is associated with Dermoid cyst?", "seeds": [ "Dermoid cyst" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11169", "question": "What is associated with Atelencephaly?", "seeds": [ "Atelencephaly" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11170", "question": "What is associated with Limited repertoire of facial expression?", "seeds": [ "Limited repertoire of facial expression" ], "gold_answer": "Abnormal nonverbal communicative behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11171", "question": "What phenotype is associated with Congenital disorder of glycosylation, type IR?", "seeds": [ "Congenital disorder of glycosylation, type IR" ], "gold_answer": "Failure to thrive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11172", "question": "What is associated with Hypocalcemic vitamin D-resistant rickets?", "seeds": [ "Hypocalcemic vitamin D-resistant rickets" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11173", "question": "What is associated with Methylmalonic aciduria, vitamin B12-responsive, cblA type?", "seeds": [ "Methylmalonic aciduria, vitamin B12-responsive, cblA type" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11174", "question": "What phenotype is associated with Tooth agenesis, selective, 9?", "seeds": [ "Tooth agenesis, selective, 9" ], "gold_answer": "Microdontia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11175", "question": "What is associated with Jaw pain?", "seeds": [ "Jaw pain" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11176", "question": "What is associated with Reduced erythrocyte 2,3-diphosphoglycerate concentration?", "seeds": [ "Reduced erythrocyte 2,3-diphosphoglycerate concentration" ], "gold_answer": "Abnormal erythrocyte metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11177", "question": "What phenotype is associated with Migraine without aura, susceptibility to, 4?", "seeds": [ "Migraine without aura, susceptibility to, 4" ], "gold_answer": "Nausea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11178", "question": "What is associated with Hydronephrosis?", "seeds": [ "Hydronephrosis" ], "gold_answer": "Dilatation of the renal pelvis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11179", "question": "What is associated with Cerebral perivascular enhancement pattern?", "seeds": [ "Cerebral perivascular enhancement pattern" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11180", "question": "What is associated with Stickler syndrome, type I?", "seeds": [ "Stickler syndrome, type I" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11181", "question": "What is associated with Abnormal sperm mid-piece morphology?", "seeds": [ "Abnormal sperm mid-piece morphology" ], "gold_answer": "Abnormal germ cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11182", "question": "What is associated with Hypoglycemia?", "seeds": [ "Hypoglycemia" ], "gold_answer": "Abnormal glucose homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11183", "question": "What is associated with 48,XXYY syndrome?", "seeds": [ "48,XXYY syndrome" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11184", "question": "What is associated with Autosomal recessive Emery-Dreifuss muscular dystrophy?", "seeds": [ "Autosomal recessive Emery-Dreifuss muscular dystrophy" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11185", "question": "What is associated with Hypoplastic facial bones?", "seeds": [ "Hypoplastic facial bones" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11186", "question": "What is associated with Cone-shaped capital femoral epiphysis?", "seeds": [ "Cone-shaped capital femoral epiphysis" ], "gold_answer": "Abnormality of the epiphysis of the femoral head", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11187", "question": "What phenotype is associated with Lactate dehydrogenase B deficiency?", "seeds": [ "Lactate dehydrogenase B deficiency" ], "gold_answer": "Reduced circulating lactate dehydrogenase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11188", "question": "What is associated with Brain neoplasm?", "seeds": [ "Brain neoplasm" ], "gold_answer": "Neoplasm of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11189", "question": "What is associated with Recent foraged mushroom consumption?", "seeds": [ "Recent foraged mushroom consumption" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11190", "question": "What is associated with Reduced circulating interleukin 27 concentration?", "seeds": [ "Reduced circulating interleukin 27 concentration" ], "gold_answer": "Abnormal circulating interleukin 27 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11191", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked syndromic, Cabezas type?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic, Cabezas type" ], "gold_answer": "Micropenis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11192", "question": "What is associated with Parasite allergy?", "seeds": [ "Parasite allergy" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11193", "question": "What is associated with Paraplegia?", "seeds": [ "Paraplegia" ], "gold_answer": "Weakness due to upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11194", "question": "What is associated with X-linked adrenoleukodystrophy?", "seeds": [ "X-linked adrenoleukodystrophy" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11195", "question": "What is associated with Branchial sinus?", "seeds": [ "Branchial sinus" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11196", "question": "What phenotype is associated with Hyperostosis cranialis interna?", "seeds": [ "Hyperostosis cranialis interna" ], "gold_answer": "Occipital horn", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11197", "question": "What is associated with Abnormal circulating nucleobase concentration?", "seeds": [ "Abnormal circulating nucleobase concentration" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11198", "question": "What phenotype is associated with Centronuclear myopathy 5?", "seeds": [ "Centronuclear myopathy 5" ], "gold_answer": "Mitral regurgitation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11199", "question": "What is associated with Reduced residual volume?", "seeds": [ "Reduced residual volume" ], "gold_answer": "Abnormal residual volume", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11200", "question": "What is associated with Mitochondrial DNA-related cardiomyopathy and hearing loss?", "seeds": [ "Mitochondrial DNA-related cardiomyopathy and hearing loss" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11201", "question": "What is associated with Compensated hemolytic anemia?", "seeds": [ "Compensated hemolytic anemia" ], "gold_answer": "Anemia due to reduced life span of red cells", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11202", "question": "What is associated with APUdoma?", "seeds": [ "APUdoma" ], "gold_answer": "Neoplasm of the endocrine system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11203", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 11?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 11" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11204", "question": "What is associated with Mitochondrial complex IV deficiency, nuclear type 3?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 3" ], "gold_answer": "Visceromegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11205", "question": "What is associated with Abnormal epiphysis morphology?", "seeds": [ "Abnormal epiphysis morphology" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11206", "question": "What is associated with Abnormality of the epiphysis of the proximal phalanx of the 3rd toe?", "seeds": [ "Abnormality of the epiphysis of the proximal phalanx of the 3rd toe" ], "gold_answer": "Abnormal third toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11207", "question": "What is associated with X-linked hypohidrotic ectodermal dysplasia?", "seeds": [ "X-linked hypohidrotic ectodermal dysplasia" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11208", "question": "What is associated with Osteochondromyxoma?", "seeds": [ "Osteochondromyxoma" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11209", "question": "What is associated with Congenital facial diplegia?", "seeds": [ "Congenital facial diplegia" ], "gold_answer": "Facial palsy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11210", "question": "What is associated with Elevanted carboxysterol concentration in cultured lymphoblasts?", "seeds": [ "Elevanted carboxysterol concentration in cultured lymphoblasts" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11211", "question": "What phenotype is associated with Ulerythema ophryogenesis?", "seeds": [ "Ulerythema ophryogenesis" ], "gold_answer": "Abnormality of the chin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11212", "question": "What is associated with Riboflavin deficiency?", "seeds": [ "Riboflavin deficiency" ], "gold_answer": "Abnormal circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11213", "question": "What is associated with Absent ossification of calvaria?", "seeds": [ "Absent ossification of calvaria" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11214", "question": "What is associated with Intestinal inflammation?", "seeds": [ "Intestinal inflammation" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11215", "question": "What is associated with Cerebellar hypoplasia-tapetoretinal degeneration syndrome?", "seeds": [ "Cerebellar hypoplasia-tapetoretinal degeneration syndrome" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11216", "question": "What is associated with Defective B cell differentiation?", "seeds": [ "Defective B cell differentiation" ], "gold_answer": "Abnormal B cell physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11217", "question": "What phenotype is associated with Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria?", "seeds": [ "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" ], "gold_answer": "Methylmalonic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11218", "question": "What phenotype is associated with Spondylometaphyseal dysplasia with cone-rod dystrophy?", "seeds": [ "Spondylometaphyseal dysplasia with cone-rod dystrophy" ], "gold_answer": "Postnatal growth retardation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11219", "question": "What is associated with Multiple small vertebral fractures?", "seeds": [ "Multiple small vertebral fractures" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11220", "question": "What is associated with Increased LH response to gonadotropin-releasing hormone stimulation test?", "seeds": [ "Increased LH response to gonadotropin-releasing hormone stimulation test" ], "gold_answer": "Abnormal response to endocrine stimulation test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11221", "question": "What is associated with Elevated circulating carcinoma antigen 125 concentration?", "seeds": [ "Elevated circulating carcinoma antigen 125 concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11222", "question": "What is associated with Fractured forearm bone?", "seeds": [ "Fractured forearm bone" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11223", "question": "What is associated with Rib osteolysis?", "seeds": [ "Rib osteolysis" ], "gold_answer": "Osteolysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11224", "question": "What is associated with Otosclerosis 12?", "seeds": [ "Otosclerosis 12" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11225", "question": "What is associated with Synostosis involving the elbow?", "seeds": [ "Synostosis involving the elbow" ], "gold_answer": "Synostosis of joints", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11226", "question": "What is associated with Decreased circulating 17-hydroxyprogesterone concentration?", "seeds": [ "Decreased circulating 17-hydroxyprogesterone concentration" ], "gold_answer": "Decreased circulating progesterone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11227", "question": "What is associated with Autosomal recessive methemoglobinemia?", "seeds": [ "Autosomal recessive methemoglobinemia" ], "gold_answer": "Esodeviation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11228", "question": "What is associated with Decreased circulating ferritin concentration?", "seeds": [ "Decreased circulating ferritin concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11229", "question": "What is associated with First dorsal interossei muscle atrophy?", "seeds": [ "First dorsal interossei muscle atrophy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11230", "question": "What is associated with Abnormal visual electrophysiology?", "seeds": [ "Abnormal visual electrophysiology" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11231", "question": "What phenotype is associated with Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder?", "seeds": [ "Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder" ], "gold_answer": "Thin upper lip vermilion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11232", "question": "What phenotype is associated with Vitamin K antagonist embryofetopathy?", "seeds": [ "Vitamin K antagonist embryofetopathy" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11233", "question": "What is associated with Hyperphenylalaninemia, bh4-deficient, C?", "seeds": [ "Hyperphenylalaninemia, bh4-deficient, C" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11234", "question": "What is associated with Cleft lip/palate-deafness-sacral lipoma syndrome?", "seeds": [ "Cleft lip/palate-deafness-sacral lipoma syndrome" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11235", "question": "What is associated with Abnormal lacrimal gland morphology?", "seeds": [ "Abnormal lacrimal gland morphology" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11236", "question": "What is associated with White forelock with malformations?", "seeds": [ "White forelock with malformations" ], "gold_answer": "Abnormality of skeletal maturation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11237", "question": "What is associated with FANCONI ANEMIA, COMPLEMENTATION GROUP U?", "seeds": [ "FANCONI ANEMIA, COMPLEMENTATION GROUP U" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the thumb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11238", "question": "What is associated with Advanced sleep phase syndrome, familial, 1?", "seeds": [ "Advanced sleep phase syndrome, familial, 1" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11239", "question": "What phenotype is associated with Bardet-Biedl syndrome 16?", "seeds": [ "Bardet-Biedl syndrome 16" ], "gold_answer": "Ureteral atresia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11240", "question": "What is associated with Sclerosis of the distal phalanx of the 2nd toe?", "seeds": [ "Sclerosis of the distal phalanx of the 2nd toe" ], "gold_answer": "Abnormality of the distal phalanx of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11241", "question": "What is associated with Mixed cirrhosis?", "seeds": [ "Mixed cirrhosis" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11242", "question": "What phenotype is associated with Lissencephaly 8?", "seeds": [ "Lissencephaly 8" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11243", "question": "What is associated with Congenital blindness?", "seeds": [ "Congenital blindness" ], "gold_answer": "Blindness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11244", "question": "What is associated with Reduced respiratory ciliary beating frequency?", "seeds": [ "Reduced respiratory ciliary beating frequency" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11245", "question": "What is associated with Increased CSF tryptophan concentration?", "seeds": [ "Increased CSF tryptophan concentration" ], "gold_answer": "Abnormal CSF tryptophan concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11246", "question": "What is associated with Corneal guttata?", "seeds": [ "Corneal guttata" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11247", "question": "What is associated with Malalignment of the great toenail?", "seeds": [ "Malalignment of the great toenail" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11248", "question": "What is associated with Ehlers-Danlos syndrome, spondylodysplastic type, 2?", "seeds": [ "Ehlers-Danlos syndrome, spondylodysplastic type, 2" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11249", "question": "What is associated with Irregular ossification at anterior rib ends?", "seeds": [ "Irregular ossification at anterior rib ends" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11250", "question": "What phenotype is associated with Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb?", "seeds": [ "Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11251", "question": "What is associated with Mild receptive language delay?", "seeds": [ "Mild receptive language delay" ], "gold_answer": "Receptive language delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11252", "question": "What is associated with Abnormality of humoral immunity?", "seeds": [ "Abnormality of humoral immunity" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11253", "question": "What is associated with Hypermethioninemia due to adenosine kinase deficiency?", "seeds": [ "Hypermethioninemia due to adenosine kinase deficiency" ], "gold_answer": "GATA6", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_11254", "question": "What phenotype is associated with Idiopathic hypersomnia?", "seeds": [ "Idiopathic hypersomnia" ], "gold_answer": "Hypnopompic hallucinations", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11255", "question": "What is associated with Parkinson disease 15, autosomal recessive early-onset?", "seeds": [ "Parkinson disease 15, autosomal recessive early-onset" ], "gold_answer": "Appendicular spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11256", "question": "What is associated with Impairment of the reflex of the tensor tympani muscle?", "seeds": [ "Impairment of the reflex of the tensor tympani muscle" ], "gold_answer": "Abnormality of the reflex of the tensor tympani muscle", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11257", "question": "What is associated with Mediastinal mass?", "seeds": [ "Mediastinal mass" ], "gold_answer": "Mass on thoracic imaging", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11258", "question": "What is associated with Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN?", "seeds": [ "Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN" ], "gold_answer": "RBSN", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_11259", "question": "What is associated with Elevated brain choline level by MRS?", "seeds": [ "Elevated brain choline level by MRS" ], "gold_answer": "Abnormal brain choline level by MRS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11260", "question": "What is associated with Alveolar process hypoplasia?", "seeds": [ "Alveolar process hypoplasia" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11261", "question": "What phenotype is associated with Spermatogenic failure 64?", "seeds": [ "Spermatogenic failure 64" ], "gold_answer": "Abnormal sperm head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11262", "question": "What is associated with Elevated urine 3-hydroxyglutaric level?", "seeds": [ "Elevated urine 3-hydroxyglutaric level" ], "gold_answer": "Organic aciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11263", "question": "What is associated with Discrete 2 to 5-mm hyper- and hypopigmented macules?", "seeds": [ "Discrete 2 to 5-mm hyper- and hypopigmented macules" ], "gold_answer": "Hyperpigmented/hypopigmented macules", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11264", "question": "What phenotype is associated with Congenital anomalies of kidney and urinary tract 2?", "seeds": [ "Congenital anomalies of kidney and urinary tract 2" ], "gold_answer": "Renal dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11265", "question": "What is associated with Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts?", "seeds": [ "Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11266", "question": "What is associated with Distortion of the anterior part of the interhemispheric fissure?", "seeds": [ "Distortion of the anterior part of the interhemispheric fissure" ], "gold_answer": "Abnormal subarachnoid space morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11267", "question": "What is associated with Mitochondrial complex IV deficiency, nuclear type 20?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 20" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11268", "question": "What is associated with Drug-sensitive hemolytic anemia?", "seeds": [ "Drug-sensitive hemolytic anemia" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11269", "question": "What is associated with Duplicated collecting system?", "seeds": [ "Duplicated collecting system" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11270", "question": "What is associated with Fibular deviation of the 4th toe?", "seeds": [ "Fibular deviation of the 4th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11271", "question": "What is associated with Mucolipidosis III gamma?", "seeds": [ "Mucolipidosis III gamma" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11272", "question": "What is associated with Aphalangia, partial, with syndactyly and duplication of metatarsaliv?", "seeds": [ "Aphalangia, partial, with syndactyly and duplication of metatarsaliv" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11273", "question": "What phenotype is associated with Melanoma, malignant familial intraocular?", "seeds": [ "Melanoma, malignant familial intraocular" ], "gold_answer": "Uveal melanoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11274", "question": "What is associated with Reduced circulating acetylcarnitine concentration?", "seeds": [ "Reduced circulating acetylcarnitine concentration" ], "gold_answer": "Abnormal circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11275", "question": "What is associated with Spastic paraplegia 42, autosomal dominant?", "seeds": [ "Spastic paraplegia 42, autosomal dominant" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11276", "question": "What is associated with Cortical radial artery neutrophil hypercellularity?", "seeds": [ "Cortical radial artery neutrophil hypercellularity" ], "gold_answer": "Cortical radial artery leukocyte hypercellularity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11277", "question": "What phenotype is associated with Spermatogenic failure 74?", "seeds": [ "Spermatogenic failure 74" ], "gold_answer": "Male infertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11278", "question": "What is associated with Abnormal metatarsal morphology?", "seeds": [ "Abnormal metatarsal morphology" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11279", "question": "What is associated with 3M syndrome?", "seeds": [ "3M syndrome" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11280", "question": "What phenotype is associated with Congenital herpes simplex virus infection?", "seeds": [ "Congenital herpes simplex virus infection" ], "gold_answer": "Intrauterine growth retardation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11281", "question": "What is associated with Idiopathic intracranial hypertension?", "seeds": [ "Idiopathic intracranial hypertension" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11282", "question": "What is associated with Absent muscle fiber beta sarcoglycan?", "seeds": [ "Absent muscle fiber beta sarcoglycan" ], "gold_answer": "Abnormal muscle fiber protein expression", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11283", "question": "What is associated with Congenital short QT syndrome?", "seeds": [ "Congenital short QT syndrome" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11284", "question": "What is associated with Adams-Oliver syndrome 1?", "seeds": [ "Adams-Oliver syndrome 1" ], "gold_answer": "Elevated pulmonary artery pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11285", "question": "What is associated with Tenesmus?", "seeds": [ "Tenesmus" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11286", "question": "What is associated with Neuroepithelial neoplasm?", "seeds": [ "Neuroepithelial neoplasm" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11287", "question": "What phenotype is associated with Marbach-Schaaf neurodevelopmental syndrome?", "seeds": [ "Marbach-Schaaf neurodevelopmental syndrome" ], "gold_answer": "Hemidystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11288", "question": "What is associated with Irregularly shaped lymph node germinal centers?", "seeds": [ "Irregularly shaped lymph node germinal centers" ], "gold_answer": "Abnormal lymph-node germinal center morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11289", "question": "What is associated with Meconium pseudocyst?", "seeds": [ "Meconium pseudocyst" ], "gold_answer": "Abnormal fetal gastrointestinal system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11290", "question": "What is associated with Femoral bowing?", "seeds": [ "Femoral bowing" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11291", "question": "What is associated with Long nose?", "seeds": [ "Long nose" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11292", "question": "What is associated with Pain at the medial aspect of the elbow?", "seeds": [ "Pain at the medial aspect of the elbow" ], "gold_answer": "Limb pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11293", "question": "What phenotype is associated with Angelman syndrome?", "seeds": [ "Angelman syndrome" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11294", "question": "What phenotype is associated with Craniosynostosis 1?", "seeds": [ "Craniosynostosis 1" ], "gold_answer": "Right unicoronal synostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11295", "question": "What phenotype is associated with Short stature, hearing loss, retinitis pigmentosa, and distinctive facies?", "seeds": [ "Short stature, hearing loss, retinitis pigmentosa, and distinctive facies" ], "gold_answer": "Long philtrum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11296", "question": "What is associated with 10-minute APGAR score of 0?", "seeds": [ "10-minute APGAR score of 0" ], "gold_answer": "Low APGAR score", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11297", "question": "What is associated with Abnormal blood transition element cation concentration?", "seeds": [ "Abnormal blood transition element cation concentration" ], "gold_answer": "Abnormal blood cation concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11298", "question": "What is associated with Four-vessel umbilical cord?", "seeds": [ "Four-vessel umbilical cord" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11299", "question": "What phenotype is associated with Severe combined immunodeficiency, X-linked?", "seeds": [ "Severe combined immunodeficiency, X-linked" ], "gold_answer": "Abnormal fingernail morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11300", "question": "What phenotype is associated with Growth hormone deficiency, isolated, type IA?", "seeds": [ "Growth hormone deficiency, isolated, type IA" ], "gold_answer": "Persistent open anterior fontanelle", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11301", "question": "What is associated with Violet lip discoloration?", "seeds": [ "Violet lip discoloration" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11302", "question": "What is associated with Abnormal interest?", "seeds": [ "Abnormal interest" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11303", "question": "What is associated with Ulnar deviation of thumb?", "seeds": [ "Ulnar deviation of thumb" ], "gold_answer": "Deviation of the thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11304", "question": "What is associated with Duplication of middle phalanx of toe?", "seeds": [ "Duplication of middle phalanx of toe" ], "gold_answer": "Abnormality of the middle phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11305", "question": "What is associated with Autosomal recessive spastic paraplegia type 64?", "seeds": [ "Autosomal recessive spastic paraplegia type 64" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11306", "question": "What is associated with Pleural mesothelioma?", "seeds": [ "Pleural mesothelioma" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11307", "question": "What is associated with Increased total basophil count?", "seeds": [ "Increased total basophil count" ], "gold_answer": "Abnormal total basophil count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11308", "question": "What is associated with Progressive spinal muscular atrophy?", "seeds": [ "Progressive spinal muscular atrophy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11309", "question": "What is associated with Focal impaired awareness sensory seizure with gustatory features?", "seeds": [ "Focal impaired awareness sensory seizure with gustatory features" ], "gold_answer": "Focal impaired awareness sensory seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11310", "question": "What is associated with Fractured epiphysis of second metacarpal bone?", "seeds": [ "Fractured epiphysis of second metacarpal bone" ], "gold_answer": "Fractured epiphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11311", "question": "What is associated with Intrarenal reflux?", "seeds": [ "Intrarenal reflux" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11312", "question": "What phenotype is associated with Multiple endocrine neoplasia type 1?", "seeds": [ "Multiple endocrine neoplasia type 1" ], "gold_answer": "Pituitary hypothyroidism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11313", "question": "What is associated with Unaided visual acuity 0.4 LogMAR?", "seeds": [ "Unaided visual acuity 0.4 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11314", "question": "What is associated with Perivascular small intestinal hyaline deposition?", "seeds": [ "Perivascular small intestinal hyaline deposition" ], "gold_answer": "Abnormal small intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11315", "question": "What is associated with Enlarged humeral metaphyses?", "seeds": [ "Enlarged humeral metaphyses" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11316", "question": "What is associated with Adenylosuccinase deficiency?", "seeds": [ "Adenylosuccinase deficiency" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11317", "question": "What is associated with Splenic hemophagocytosis?", "seeds": [ "Splenic hemophagocytosis" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11318", "question": "What is associated with Necrotizing pulmonary granulomatosis?", "seeds": [ "Necrotizing pulmonary granulomatosis" ], "gold_answer": "Abnormal pulmonary interstitial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11319", "question": "What is associated with Humeral metaphyseal irregularity?", "seeds": [ "Humeral metaphyseal irregularity" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11320", "question": "What is associated with Avoidance of emotional intimacy?", "seeds": [ "Avoidance of emotional intimacy" ], "gold_answer": "Abnormal social development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11321", "question": "What is associated with Bullet-shaped distal phalanx of the 3rd finger?", "seeds": [ "Bullet-shaped distal phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the distal phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11322", "question": "What is associated with S-shaped palpebral fissures?", "seeds": [ "S-shaped palpebral fissures" ], "gold_answer": "Abnormal shape of the palpebral fissure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11323", "question": "What is associated with Enlarged epiphysis of the proximal phalanx of the 5th finger?", "seeds": [ "Enlarged epiphysis of the proximal phalanx of the 5th finger" ], "gold_answer": "Abnormality of the epiphyses of the 5th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11324", "question": "What is associated with Extremities cold to touch?", "seeds": [ "Extremities cold to touch" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11325", "question": "What phenotype is associated with Ige responsiveness, atopic?", "seeds": [ "Ige responsiveness, atopic" ], "gold_answer": "Allergic rhinitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11326", "question": "What is associated with Stage 3 chronic kidney disease?", "seeds": [ "Stage 3 chronic kidney disease" ], "gold_answer": "Renal insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11327", "question": "What is associated with Focal emotional seizure with crying?", "seeds": [ "Focal emotional seizure with crying" ], "gold_answer": "Focal emotional seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11328", "question": "What is associated with Osteolytic defects of the distal phalanges of the toes?", "seeds": [ "Osteolytic defects of the distal phalanges of the toes" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11329", "question": "What is associated with Dilation of Virchow-Robin spaces?", "seeds": [ "Dilation of Virchow-Robin spaces" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11330", "question": "What phenotype is associated with 3-M syndrome 1?", "seeds": [ "3-M syndrome 1" ], "gold_answer": "Small for gestational age", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11331", "question": "What is associated with Abnormality of central retinal artery?", "seeds": [ "Abnormality of central retinal artery" ], "gold_answer": "Abnormal internal carotid artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11332", "question": "What is associated with Alkalemia?", "seeds": [ "Alkalemia" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11333", "question": "What phenotype is associated with Ichthyosis, congenital, autosomal recessive 5?", "seeds": [ "Ichthyosis, congenital, autosomal recessive 5" ], "gold_answer": "Palmar hyperlinearity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11334", "question": "What phenotype is associated with Cataract 33, multiple types?", "seeds": [ "Cataract 33, multiple types" ], "gold_answer": "Nuclear cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11335", "question": "What phenotype is associated with Seckel syndrome 6?", "seeds": [ "Seckel syndrome 6" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11336", "question": "What is associated with Anomalous origin of left coronary artery from the pulmonary artery?", "seeds": [ "Anomalous origin of left coronary artery from the pulmonary artery" ], "gold_answer": "Abnormal coronary artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11337", "question": "What is associated with Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome?", "seeds": [ "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome" ], "gold_answer": "NFE2L2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_11338", "question": "What is associated with Lethal faciocardiomelic dysplasia?", "seeds": [ "Lethal faciocardiomelic dysplasia" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11339", "question": "What is associated with Brachydactyly, type C?", "seeds": [ "Brachydactyly, type C" ], "gold_answer": "Abnormality of the middle phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11340", "question": "What is associated with Nonaka myopathy?", "seeds": [ "Nonaka myopathy" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11341", "question": "What is associated with Transient nephrotic syndrome?", "seeds": [ "Transient nephrotic syndrome" ], "gold_answer": "Nephrotic syndrome", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11342", "question": "What is associated with Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome?", "seeds": [ "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the lungs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11343", "question": "What is associated with Abnormal forebrain morphology?", "seeds": [ "Abnormal forebrain morphology" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11344", "question": "What is associated with Axonal degeneration/regeneration?", "seeds": [ "Axonal degeneration/regeneration" ], "gold_answer": "Peripheral axonal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11345", "question": "What is associated with Decreased thalamic volume?", "seeds": [ "Decreased thalamic volume" ], "gold_answer": "Abnormal thalamus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11346", "question": "What is associated with Anorectal abscess?", "seeds": [ "Anorectal abscess" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11347", "question": "What is associated with Reduced contrast sensitivity?", "seeds": [ "Reduced contrast sensitivity" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11348", "question": "What phenotype is associated with Noonan syndrome 2?", "seeds": [ "Noonan syndrome 2" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11349", "question": "What is associated with Axenfeld-Rieger syndrome, type 3?", "seeds": [ "Axenfeld-Rieger syndrome, type 3" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11350", "question": "What phenotype is associated with Ichthyosis, lamellar, autosomal dominant?", "seeds": [ "Ichthyosis, lamellar, autosomal dominant" ], "gold_answer": "Pruritus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11351", "question": "What is associated with Osteoblastoma?", "seeds": [ "Osteoblastoma" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11352", "question": "What phenotype is associated with Wilms tumor 1?", "seeds": [ "Wilms tumor 1" ], "gold_answer": "Nephroblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11353", "question": "What is associated with Reduced platelet dense granules?", "seeds": [ "Reduced platelet dense granules" ], "gold_answer": "Abnormal platelet granules", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11354", "question": "What is associated with Neonatal seizure with bilateral symmetric automatism?", "seeds": [ "Neonatal seizure with bilateral symmetric automatism" ], "gold_answer": "Neonatal electro-clinical motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11355", "question": "What phenotype is associated with X-linked Charcot-Marie-Tooth disease type 3?", "seeds": [ "X-linked Charcot-Marie-Tooth disease type 3" ], "gold_answer": "Inability to walk", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11356", "question": "What is associated with Abnormal buccal fat pad morphology?", "seeds": [ "Abnormal buccal fat pad morphology" ], "gold_answer": "Abnormal midface morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11357", "question": "What is associated with Cubitus valgus?", "seeds": [ "Cubitus valgus" ], "gold_answer": "Abnormal elbow morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11358", "question": "What is associated with Abnormal electrooculogram?", "seeds": [ "Abnormal electrooculogram" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11359", "question": "What is associated with Sclerosis of the proximal phalanx of the 2nd toe?", "seeds": [ "Sclerosis of the proximal phalanx of the 2nd toe" ], "gold_answer": "Sclerosis of 2nd toe phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11360", "question": "What is associated with Tendon pain?", "seeds": [ "Tendon pain" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11361", "question": "What is associated with Intellectual disability-short stature-hypertelorism syndrome?", "seeds": [ "Intellectual disability-short stature-hypertelorism syndrome" ], "gold_answer": "Abnormal frontal bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11362", "question": "What is associated with Increased circulating creatine kinase MM isoform?", "seeds": [ "Increased circulating creatine kinase MM isoform" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11363", "question": "What is associated with Cutis laxa, autosomal recessive, type IID?", "seeds": [ "Cutis laxa, autosomal recessive, type IID" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11364", "question": "What is associated with Angel-shaped phalanx?", "seeds": [ "Angel-shaped phalanx" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11365", "question": "What is associated with Positive cutaneous herpes simplex virus nucleic acid test?", "seeds": [ "Positive cutaneous herpes simplex virus nucleic acid test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11366", "question": "What is associated with Transcobalamin I deficiency?", "seeds": [ "Transcobalamin I deficiency" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11367", "question": "What phenotype is associated with IMAGe syndrome?", "seeds": [ "IMAGe syndrome" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11368", "question": "What is associated with Reduced tissue galactocerebrosidase activity?", "seeds": [ "Reduced tissue galactocerebrosidase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11369", "question": "What is associated with Nevoid hypermelanosis, linear and whorled?", "seeds": [ "Nevoid hypermelanosis, linear and whorled" ], "gold_answer": "Abnormal granulocyte count", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11370", "question": "What is associated with Pulmonary fibrosis, idiopathic?", "seeds": [ "Pulmonary fibrosis, idiopathic" ], "gold_answer": "Abnormal DLCO", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11371", "question": "What is associated with Pulmonary edema?", "seeds": [ "Pulmonary edema" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11372", "question": "What is associated with Erythematous plaque?", "seeds": [ "Erythematous plaque" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11373", "question": "What is associated with Unaided visual acuity 3.0 LogMAR?", "seeds": [ "Unaided visual acuity 3.0 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11374", "question": "What phenotype is associated with Hydatidiform mole, recurrent, 2?", "seeds": [ "Hydatidiform mole, recurrent, 2" ], "gold_answer": "Hydatidiform mole", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11375", "question": "What is associated with Absent muscle fiber emerin?", "seeds": [ "Absent muscle fiber emerin" ], "gold_answer": "Abnormal muscle fiber emerin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11376", "question": "What is associated with Reduced tissue neuraminidase activity?", "seeds": [ "Reduced tissue neuraminidase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11377", "question": "What is associated with Elevated urinary 3-hydroxypentanoic acid level?", "seeds": [ "Elevated urinary 3-hydroxypentanoic acid level" ], "gold_answer": "Monocarboxylic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11378", "question": "What is associated with Aplasia/Hypoplasia of the thyroid gland?", "seeds": [ "Aplasia/Hypoplasia of the thyroid gland" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11379", "question": "What is associated with Gracile bone dysplasia?", "seeds": [ "Gracile bone dysplasia" ], "gold_answer": "Abnormal penis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11380", "question": "What is associated with Auditory neuropathy, autosomal dominant 2?", "seeds": [ "Auditory neuropathy, autosomal dominant 2" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11381", "question": "What is associated with Peters plus syndrome?", "seeds": [ "Peters plus syndrome" ], "gold_answer": "Abnormal renal pelvis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11382", "question": "What is associated with Pseudoepiphysis of the proximal phalanx of the hallux?", "seeds": [ "Pseudoepiphysis of the proximal phalanx of the hallux" ], "gold_answer": "Pseudoepiphyses", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11383", "question": "What is associated with Fragmented epiphyses?", "seeds": [ "Fragmented epiphyses" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11384", "question": "What is associated with Ichthyosis, congenital, autosomal recessive 11?", "seeds": [ "Ichthyosis, congenital, autosomal recessive 11" ], "gold_answer": "Abnormality of hair texture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11385", "question": "What phenotype is associated with Ullrich congenital muscular dystrophy 1B?", "seeds": [ "Ullrich congenital muscular dystrophy 1B" ], "gold_answer": "Kyphosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11386", "question": "What is associated with Auricular pit?", "seeds": [ "Auricular pit" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11387", "question": "What is associated with Fragile site 16q22?", "seeds": [ "Fragile site 16q22" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11388", "question": "What is associated with Absent tragus?", "seeds": [ "Absent tragus" ], "gold_answer": "Abnormal tragus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11389", "question": "What is associated with Megaloblastic anemia?", "seeds": [ "Megaloblastic anemia" ], "gold_answer": "Macrocytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11390", "question": "What phenotype is associated with Epilepsy, juvenile absence?", "seeds": [ "Epilepsy, juvenile absence" ], "gold_answer": "Generalized myoclonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11391", "question": "What is associated with Postaxial polysyndactyly of foot?", "seeds": [ "Postaxial polysyndactyly of foot" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11392", "question": "What is associated with Chronic mucocutaneous candidiasis?", "seeds": [ "Chronic mucocutaneous candidiasis" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11393", "question": "What is associated with Myopathic Ehlers-Danlos syndrome?", "seeds": [ "Myopathic Ehlers-Danlos syndrome" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11394", "question": "What is associated with Foveal intraretinal hyporeflective spaces on macular OCT?", "seeds": [ "Foveal intraretinal hyporeflective spaces on macular OCT" ], "gold_answer": "Foveal hyporeflective spaces on macular OCT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11395", "question": "What phenotype is associated with Hypermethioninemia due to adenosine kinase deficiency?", "seeds": [ "Hypermethioninemia due to adenosine kinase deficiency" ], "gold_answer": "Poor speech", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11396", "question": "What is associated with Curved 1st metatarsal?", "seeds": [ "Curved 1st metatarsal" ], "gold_answer": "Abnormality of the first metatarsal bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11397", "question": "What is associated with Cerebral calcification?", "seeds": [ "Cerebral calcification" ], "gold_answer": "Ectopic calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11398", "question": "What is associated with Arteriovenous fistula?", "seeds": [ "Arteriovenous fistula" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11399", "question": "What is associated with Elevated circulating C-triol concentration?", "seeds": [ "Elevated circulating C-triol concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11400", "question": "What is associated with Elevated urinary dolichol level?", "seeds": [ "Elevated urinary dolichol level" ], "gold_answer": "Abnormal urinary organic compound level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11401", "question": "What is associated with Abnormal urine cytology?", "seeds": [ "Abnormal urine cytology" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11402", "question": "What is associated with Accessory scaphoid?", "seeds": [ "Accessory scaphoid" ], "gold_answer": "Abnormal carpal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11403", "question": "What is associated with Abdominal obesity-metabolic syndrome 1?", "seeds": [ "Abdominal obesity-metabolic syndrome 1" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11404", "question": "What phenotype is associated with Metaphyseal chondrodysplasia, Spahr type?", "seeds": [ "Metaphyseal chondrodysplasia, Spahr type" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11405", "question": "What is associated with Cervical vertebral facet hypoplasia?", "seeds": [ "Cervical vertebral facet hypoplasia" ], "gold_answer": "Abnormality of the cervical spine", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11406", "question": "What is associated with Reduced epidermal keratin protein expression?", "seeds": [ "Reduced epidermal keratin protein expression" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11407", "question": "What is associated with Monoclonal elevation of IgG light chain?", "seeds": [ "Monoclonal elevation of IgG light chain" ], "gold_answer": "Monoclonal elevation of IgG", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11408", "question": "What is associated with Irregular ossification of hand bones?", "seeds": [ "Irregular ossification of hand bones" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11409", "question": "What is associated with Decreased naive CD4+ T cell proportion?", "seeds": [ "Decreased naive CD4+ T cell proportion" ], "gold_answer": "Abnormal naive CD4+ T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11410", "question": "What is associated with Carotid artery dissection?", "seeds": [ "Carotid artery dissection" ], "gold_answer": "Abnormal carotid artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11411", "question": "What is associated with Small posterior fossa?", "seeds": [ "Small posterior fossa" ], "gold_answer": "Abnormal skull base morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11412", "question": "What is associated with Focal cognitive seizure with left-right confusion?", "seeds": [ "Focal cognitive seizure with left-right confusion" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11413", "question": "What is associated with Motor seizure?", "seeds": [ "Motor seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11414", "question": "What is associated with Eruptive vellus hair cyst?", "seeds": [ "Eruptive vellus hair cyst" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11415", "question": "What is associated with Oculomaxillofacial dysostosis?", "seeds": [ "Oculomaxillofacial dysostosis" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11416", "question": "What is associated with Cutaneous mastocytosis, conductive hearing loss, and microtia?", "seeds": [ "Cutaneous mastocytosis, conductive hearing loss, and microtia" ], "gold_answer": "Aplasia/Hypoplasia of the external ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11417", "question": "What is associated with Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome?", "seeds": [ "Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome" ], "gold_answer": "Aplasia/Hypoplasia of toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11418", "question": "What is associated with Synostosis involving digits?", "seeds": [ "Synostosis involving digits" ], "gold_answer": "Synostosis of joints", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11419", "question": "What is associated with Abnormal Humphrey SITA 10-2 perimetry test?", "seeds": [ "Abnormal Humphrey SITA 10-2 perimetry test" ], "gold_answer": "Abnormal static perimetry test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11420", "question": "What is associated with Leukoencephalopathy, porphyria-related?", "seeds": [ "Leukoencephalopathy, porphyria-related" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11421", "question": "What is associated with Depersonalization?", "seeds": [ "Depersonalization" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11422", "question": "What phenotype is associated with Elliptocytosis 2?", "seeds": [ "Elliptocytosis 2" ], "gold_answer": "Neonatal hyperbilirubinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11423", "question": "What is associated with Decreased Th17 T cell proportion?", "seeds": [ "Decreased Th17 T cell proportion" ], "gold_answer": "Abnormal Th17 T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11424", "question": "What is associated with Synotia?", "seeds": [ "Synotia" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11425", "question": "What is associated with Chronic rhinitis?", "seeds": [ "Chronic rhinitis" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11426", "question": "What is associated with Calcified ovarian cyst?", "seeds": [ "Calcified ovarian cyst" ], "gold_answer": "Abnormal ovarian morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11427", "question": "What phenotype is associated with Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly?", "seeds": [ "Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11428", "question": "What is associated with Exercise-induced muscle stiffness?", "seeds": [ "Exercise-induced muscle stiffness" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11429", "question": "What is associated with Pfeiffer syndrome type 2?", "seeds": [ "Pfeiffer syndrome type 2" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11430", "question": "What is associated with Upper-limb joint contracture?", "seeds": [ "Upper-limb joint contracture" ], "gold_answer": "Abnormal tendon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11431", "question": "What is associated with Clubbing of fingers?", "seeds": [ "Clubbing of fingers" ], "gold_answer": "Abnormal fingertip morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11432", "question": "What is associated with Marfan syndrome type 2?", "seeds": [ "Marfan syndrome type 2" ], "gold_answer": "TGFBR2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_11433", "question": "What is associated with Amelia involving the upper limbs?", "seeds": [ "Amelia involving the upper limbs" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11434", "question": "What phenotype is associated with Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis?", "seeds": [ "Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis" ], "gold_answer": "Dilated cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11435", "question": "What is associated with Glomerular endothelial tubuloreticular inclusion?", "seeds": [ "Glomerular endothelial tubuloreticular inclusion" ], "gold_answer": "Abnormal glomerular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11436", "question": "What is associated with Shellfish allergy?", "seeds": [ "Shellfish allergy" ], "gold_answer": "Seafood allergy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11437", "question": "What is associated with Osteoglosphonic dysplasia?", "seeds": [ "Osteoglosphonic dysplasia" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11438", "question": "What phenotype is associated with Systemic lupus erythematosus 18?", "seeds": [ "Systemic lupus erythematosus 18" ], "gold_answer": "Anorexia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11439", "question": "What is associated with Asymmetric bilateral cleft lip?", "seeds": [ "Asymmetric bilateral cleft lip" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11440", "question": "What is associated with Developmental and epileptic encephalopathy 26?", "seeds": [ "Developmental and epileptic encephalopathy 26" ], "gold_answer": "Stereotypic upper-extremity movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11441", "question": "What is associated with Chromosome 13q14 deletion syndrome?", "seeds": [ "Chromosome 13q14 deletion syndrome" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11442", "question": "What is associated with Superior pectus carinatum?", "seeds": [ "Superior pectus carinatum" ], "gold_answer": "Abnormal sternum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11443", "question": "What is associated with Abnormal urine guanidinoacetic acid level?", "seeds": [ "Abnormal urine guanidinoacetic acid level" ], "gold_answer": "Increased urine proteinogenic amino acid derivative level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11444", "question": "What is associated with Increased intraabdominal fat?", "seeds": [ "Increased intraabdominal fat" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11445", "question": "What is associated with Prelingual sensorineural hearing impairment?", "seeds": [ "Prelingual sensorineural hearing impairment" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11446", "question": "What is associated with Petechiae?", "seeds": [ "Petechiae" ], "gold_answer": "Subcutaneous hemorrhage", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11447", "question": "What phenotype is associated with Simpson-Golabi-Behmel syndrome, type 1?", "seeds": [ "Simpson-Golabi-Behmel syndrome, type 1" ], "gold_answer": "Corneal neovascularization", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11448", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 52?", "seeds": [ "Ciliary dyskinesia, primary, 52" ], "gold_answer": "Ventricular septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11449", "question": "What is associated with Positive bloodstream VDRL test?", "seeds": [ "Positive bloodstream VDRL test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11450", "question": "What is associated with Trismus?", "seeds": [ "Trismus" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11451", "question": "What phenotype is associated with Hepatocellular carcinoma?", "seeds": [ "Hepatocellular carcinoma" ], "gold_answer": "Subacute progressive viral hepatitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11452", "question": "What is associated with Jaw contracture?", "seeds": [ "Jaw contracture" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11453", "question": "What is associated with Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis?", "seeds": [ "Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11454", "question": "What is associated with Aniridia-ptosis-intellectual disability-familial obesity syndrome?", "seeds": [ "Aniridia-ptosis-intellectual disability-familial obesity syndrome" ], "gold_answer": "Aplasia/Hypoplasia affecting the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11455", "question": "What is associated with Postmenopausal onset?", "seeds": [ "Postmenopausal onset" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11456", "question": "What is associated with Snail-like ilia?", "seeds": [ "Snail-like ilia" ], "gold_answer": "Abnormal ilium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11457", "question": "What is associated with Focal impaired awareness autonomic seizure with pallor/flushing?", "seeds": [ "Focal impaired awareness autonomic seizure with pallor/flushing" ], "gold_answer": "Focal autonomic seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11458", "question": "What is associated with Aplasia of the vestibule?", "seeds": [ "Aplasia of the vestibule" ], "gold_answer": "Abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11459", "question": "What is associated with Pyknotic bone marrow neutrophils?", "seeds": [ "Pyknotic bone marrow neutrophils" ], "gold_answer": "Abnormal granulocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11460", "question": "What is associated with Achilles tendon calcification?", "seeds": [ "Achilles tendon calcification" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11461", "question": "What is associated with Pulmonary artery aneurysm?", "seeds": [ "Pulmonary artery aneurysm" ], "gold_answer": "Abnormality of the pulmonary artery", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11462", "question": "What is associated with Reduced leukocyte alpha-L-fucosidase activity?", "seeds": [ "Reduced leukocyte alpha-L-fucosidase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11463", "question": "What is associated with Coffin-Siris syndrome 5?", "seeds": [ "Coffin-Siris syndrome 5" ], "gold_answer": "Thick vermilion border", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11464", "question": "What is associated with Cataract-hypertrichosis-intellectual disability syndrome?", "seeds": [ "Cataract-hypertrichosis-intellectual disability syndrome" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11465", "question": "What is associated with Abnormality of neutrophil morphology in CSF?", "seeds": [ "Abnormality of neutrophil morphology in CSF" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11466", "question": "What is associated with Early infantile developmental and epileptic encephalopathy?", "seeds": [ "Early infantile developmental and epileptic encephalopathy" ], "gold_answer": "Abnormal morphology of the nasal alae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11467", "question": "What is associated with Impaired renal tubular reabsorption of uric acid?", "seeds": [ "Impaired renal tubular reabsorption of uric acid" ], "gold_answer": "Renal tubular dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11468", "question": "What is associated with Aplasia of the thymus?", "seeds": [ "Aplasia of the thymus" ], "gold_answer": "Aplasia/Hypoplasia of the thymus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11469", "question": "What is associated with Abnormal circulating amino acid concentration?", "seeds": [ "Abnormal circulating amino acid concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11470", "question": "What is associated with Low placental alkaline phosphatase?", "seeds": [ "Low placental alkaline phosphatase" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11471", "question": "What is associated with Arterial tortuosity-bone fragility syndrome?", "seeds": [ "Arterial tortuosity-bone fragility syndrome" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11472", "question": "What is associated with Abnormal mandible coronoid process morphology?", "seeds": [ "Abnormal mandible coronoid process morphology" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11473", "question": "What is associated with Chiari type II malformation?", "seeds": [ "Chiari type II malformation" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11474", "question": "What is associated with Broad phalanges of the 3rd finger?", "seeds": [ "Broad phalanges of the 3rd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11475", "question": "What is associated with Abnormal Bowman capsule morphology?", "seeds": [ "Abnormal Bowman capsule morphology" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11476", "question": "What is associated with Lethal acantholytic erosive disorder?", "seeds": [ "Lethal acantholytic erosive disorder" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11477", "question": "What is associated with Intestinal ischemia?", "seeds": [ "Intestinal ischemia" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11478", "question": "What phenotype is associated with Congenital myopathy 26?", "seeds": [ "Congenital myopathy 26" ], "gold_answer": "Fiber type grouping", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11479", "question": "What is associated with Splayed epiphyses?", "seeds": [ "Splayed epiphyses" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11480", "question": "What is associated with MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1?", "seeds": [ "MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11481", "question": "What is associated with Developmental glaucoma?", "seeds": [ "Developmental glaucoma" ], "gold_answer": "Glaucoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11482", "question": "What is associated with Angioma serpentinum?", "seeds": [ "Angioma serpentinum" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11483", "question": "What is associated with Foot asymmetry?", "seeds": [ "Foot asymmetry" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11484", "question": "What is associated with Hypotonia-cystinuria syndrome?", "seeds": [ "Hypotonia-cystinuria syndrome" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11485", "question": "What is associated with Attention deficit-hyperactivity disorder 8?", "seeds": [ "Attention deficit-hyperactivity disorder 8" ], "gold_answer": "Hyperactivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11486", "question": "What is associated with Mucolipidosis type III?", "seeds": [ "Mucolipidosis type III" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11487", "question": "What is associated with EEG with polyspike wave complexes?", "seeds": [ "EEG with polyspike wave complexes" ], "gold_answer": "EEG with generalized epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11488", "question": "What is associated with Abnormal 3rd metacarpal epiphysis morphology?", "seeds": [ "Abnormal 3rd metacarpal epiphysis morphology" ], "gold_answer": "Abnormal 3rd metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11489", "question": "What is associated with Martsolf syndrome 2?", "seeds": [ "Martsolf syndrome 2" ], "gold_answer": "Flexion contracture of digit", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11490", "question": "What is associated with Hypermanganesemia?", "seeds": [ "Hypermanganesemia" ], "gold_answer": "Abnormal blood cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11491", "question": "What is associated with Cutis gyrata of scalp?", "seeds": [ "Cutis gyrata of scalp" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11492", "question": "What is associated with Decreased specific pneumococcal antibody level?", "seeds": [ "Decreased specific pneumococcal antibody level" ], "gold_answer": "Decreased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11493", "question": "What is associated with Frailty?", "seeds": [ "Frailty" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11494", "question": "What is associated with Stippling of the epiphysis of the 1st metatarsal?", "seeds": [ "Stippling of the epiphysis of the 1st metatarsal" ], "gold_answer": "Abnormality of the epiphyses of the hallux", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11495", "question": "What is associated with Hyperpigmented streaks?", "seeds": [ "Hyperpigmented streaks" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11496", "question": "What is associated with Nemaline myopathy 3?", "seeds": [ "Nemaline myopathy 3" ], "gold_answer": "Functional motor deficit", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11497", "question": "What is associated with Unaided visual acuity 3.0 LogMAR?", "seeds": [ "Unaided visual acuity 3.0 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11498", "question": "What is associated with Hypothermia?", "seeds": [ "Hypothermia" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11499", "question": "What is associated with Radial head fracture?", "seeds": [ "Radial head fracture" ], "gold_answer": "Fractured radius", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11500", "question": "What is associated with Visual gaze preference?", "seeds": [ "Visual gaze preference" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11501", "question": "What is associated with Fractured lower limb segment?", "seeds": [ "Fractured lower limb segment" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11502", "question": "What is associated with Narrow femoral neck?", "seeds": [ "Narrow femoral neck" ], "gold_answer": "Abnormal femoral neck morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11503", "question": "What is associated with Auroneurodental syndrome?", "seeds": [ "Auroneurodental syndrome" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11504", "question": "What is associated with Abnormal urine amino acid level?", "seeds": [ "Abnormal urine amino acid level" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11505", "question": "What phenotype is associated with Nephronophthisis 20?", "seeds": [ "Nephronophthisis 20" ], "gold_answer": "Stage 5 chronic kidney disease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11506", "question": "What is associated with Cupped ear?", "seeds": [ "Cupped ear" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11507", "question": "What is associated with Mercury poisoning?", "seeds": [ "Mercury poisoning" ], "gold_answer": "Respiratory insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11508", "question": "What is associated with Ameliorated by colchicine?", "seeds": [ "Ameliorated by colchicine" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11509", "question": "What is associated with Increased fetal long bone echogenicity?", "seeds": [ "Increased fetal long bone echogenicity" ], "gold_answer": "Abnormal fetal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11510", "question": "What is associated with Bartter syndrome, type 3?", "seeds": [ "Bartter syndrome, type 3" ], "gold_answer": "Alkalosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11511", "question": "What is associated with Focal orofacial automatism seizure?", "seeds": [ "Focal orofacial automatism seizure" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11512", "question": "What is associated with Geophagia?", "seeds": [ "Geophagia" ], "gold_answer": "Abnormal consumption behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11513", "question": "What is associated with Supernumerary vertebral ossification centers?", "seeds": [ "Supernumerary vertebral ossification centers" ], "gold_answer": "Abnormally ossified vertebrae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11514", "question": "What is associated with Cerebral dysmyelination?", "seeds": [ "Cerebral dysmyelination" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11515", "question": "What is associated with Spontaneous pain sensation?", "seeds": [ "Spontaneous pain sensation" ], "gold_answer": "Abnormality of pain sensation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11516", "question": "What is associated with Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries?", "seeds": [ "Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries" ], "gold_answer": "Tetralogy of Fallot with pulmonary atresia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11517", "question": "What is associated with Fibular aplasia-complex brachydactyly syndrome?", "seeds": [ "Fibular aplasia-complex brachydactyly syndrome" ], "gold_answer": "Carpal synostosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11518", "question": "What phenotype is associated with Mucolipidosis IV?", "seeds": [ "Mucolipidosis IV" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11519", "question": "What is associated with Pulmonary arterial atherosclerosis?", "seeds": [ "Pulmonary arterial atherosclerosis" ], "gold_answer": "Abnormal pulmonary artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11520", "question": "What is associated with Deformed rib cage?", "seeds": [ "Deformed rib cage" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11521", "question": "What is associated with Spinal neurenteric cyst?", "seeds": [ "Spinal neurenteric cyst" ], "gold_answer": "Central nervous system cyst", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11522", "question": "What is associated with Glycine encephalopathy 2?", "seeds": [ "Glycine encephalopathy 2" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11523", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2HH?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2HH" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11524", "question": "What is associated with Elevated circulating acetylcarnitine concentration?", "seeds": [ "Elevated circulating acetylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11525", "question": "What is associated with Lissencephaly due to TUBA1A mutation?", "seeds": [ "Lissencephaly due to TUBA1A mutation" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11526", "question": "What is associated with Abnormal circulating transferrin concentration?", "seeds": [ "Abnormal circulating transferrin concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11527", "question": "What is associated with Auriculitis?", "seeds": [ "Auriculitis" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11528", "question": "What is associated with Acquired schizencephaly?", "seeds": [ "Acquired schizencephaly" ], "gold_answer": "SIX3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_11529", "question": "What is associated with Patchy sclerosis of the distal phalanx of the 3rd toe?", "seeds": [ "Patchy sclerosis of the distal phalanx of the 3rd toe" ], "gold_answer": "Abnormal distal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11530", "question": "What phenotype is associated with Kabuki syndrome 1?", "seeds": [ "Kabuki syndrome 1" ], "gold_answer": "Clinodactyly of the 5th finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11531", "question": "What is associated with Piezogenic pedal papules?", "seeds": [ "Piezogenic pedal papules" ], "gold_answer": "Papule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11532", "question": "What is associated with Oculopharyngodistal myopathy 4?", "seeds": [ "Oculopharyngodistal myopathy 4" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11533", "question": "What is associated with Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia?", "seeds": [ "Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11534", "question": "What is associated with Short telomere length?", "seeds": [ "Short telomere length" ], "gold_answer": "Abnormal cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11535", "question": "What is associated with Li-Fraumeni syndrome?", "seeds": [ "Li-Fraumeni syndrome" ], "gold_answer": "Male reproductive system neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11536", "question": "What phenotype is associated with Spastic paraplegia 12, autosomal dominant?", "seeds": [ "Spastic paraplegia 12, autosomal dominant" ], "gold_answer": "Impaired vibration sensation in the lower limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11537", "question": "What is associated with Epidermolysis bullosa, junctional 5A, intermediate?", "seeds": [ "Epidermolysis bullosa, junctional 5A, intermediate" ], "gold_answer": "Absent hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11538", "question": "What is associated with Anisocoria?", "seeds": [ "Anisocoria" ], "gold_answer": "Abnormal pupil morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11539", "question": "What is associated with Follicular thyroid carcinoma?", "seeds": [ "Follicular thyroid carcinoma" ], "gold_answer": "Neoplasm of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11540", "question": "What is associated with Sclerosis of the distal phalanx of the hallux?", "seeds": [ "Sclerosis of the distal phalanx of the hallux" ], "gold_answer": "Sclerosis of toe phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11541", "question": "What is associated with Spermatogenic failure, X-linked, 8, susceptibility to?", "seeds": [ "Spermatogenic failure, X-linked, 8, susceptibility to" ], "gold_answer": "Abnormal sperm tail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11542", "question": "What is associated with Vertebral artery hypoplasia?", "seeds": [ "Vertebral artery hypoplasia" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11543", "question": "What phenotype is associated with Microphthalmia, isolated, with coloboma 6?", "seeds": [ "Microphthalmia, isolated, with coloboma 6" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11544", "question": "What is associated with Epileptic encephalopathy, early infantile, 34?", "seeds": [ "Epileptic encephalopathy, early infantile, 34" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11545", "question": "What is associated with Fractured middle phalanx of pedal digit 3?", "seeds": [ "Fractured middle phalanx of pedal digit 3" ], "gold_answer": "Abnormality of the middle phalanx of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11546", "question": "What is associated with X-linked intellectual disability, Shrimpton type?", "seeds": [ "X-linked intellectual disability, Shrimpton type" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11547", "question": "What is associated with Anti-U11/U12 RNP antibody positivity?", "seeds": [ "Anti-U11/U12 RNP antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11548", "question": "What is associated with Renal tubular karyomegaly?", "seeds": [ "Renal tubular karyomegaly" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11549", "question": "What is associated with Abnormal fibula morphology?", "seeds": [ "Abnormal fibula morphology" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11550", "question": "What is associated with Chronic fatigue?", "seeds": [ "Chronic fatigue" ], "gold_answer": "Fatigue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11551", "question": "What is associated with Ovarian mass?", "seeds": [ "Ovarian mass" ], "gold_answer": "Abnormality of the ovary", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11552", "question": "What is associated with Neurodevelopmental abnormality?", "seeds": [ "Neurodevelopmental abnormality" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11553", "question": "What is associated with Stippling of the epiphyses of the 3rd finger?", "seeds": [ "Stippling of the epiphyses of the 3rd finger" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11554", "question": "What is associated with Iris cyst?", "seeds": [ "Iris cyst" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11555", "question": "What is associated with Elevated circulating creatine kinase concentration?", "seeds": [ "Elevated circulating creatine kinase concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11556", "question": "What is associated with Short 4th toe?", "seeds": [ "Short 4th toe" ], "gold_answer": "Short toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11557", "question": "What is associated with Osteosclerosis of ribs?", "seeds": [ "Osteosclerosis of ribs" ], "gold_answer": "Abnormal enchondral ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11558", "question": "What is associated with Tibiofibular diastasis?", "seeds": [ "Tibiofibular diastasis" ], "gold_answer": "Abnormal tibia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11559", "question": "What is associated with Anti-Japanese encephalitis virus-specific antibody positivity?", "seeds": [ "Anti-Japanese encephalitis virus-specific antibody positivity" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11560", "question": "What phenotype is associated with Combined oxidative phosphorylation deficiency 60?", "seeds": [ "Combined oxidative phosphorylation deficiency 60" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11561", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 92?", "seeds": [ "Intellectual developmental disorder, X-linked 92" ], "gold_answer": "Blepharophimosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11562", "question": "What phenotype is associated with Nephrotic syndrome, type 26?", "seeds": [ "Nephrotic syndrome, type 26" ], "gold_answer": "Steroid-resistant nephrotic syndrome", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11563", "question": "What is associated with Pyknoachondrogenesis?", "seeds": [ "Pyknoachondrogenesis" ], "gold_answer": "Abnormal nasal dorsum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11564", "question": "What phenotype is associated with Tyrosinemia type 2?", "seeds": [ "Tyrosinemia type 2" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11565", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 104?", "seeds": [ "Developmental and epileptic encephalopathy 104" ], "gold_answer": "Bilateral tonic-clonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11566", "question": "What is associated with Spastic paraplegia 64, autosomal recessive?", "seeds": [ "Spastic paraplegia 64, autosomal recessive" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11567", "question": "What is associated with Adrenal xanthomatosis?", "seeds": [ "Adrenal xanthomatosis" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11568", "question": "What is associated with Spondyloepiphyseal dysplasia?", "seeds": [ "Spondyloepiphyseal dysplasia" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11569", "question": "What is associated with EEG with irregular generalized spike and wave complexes?", "seeds": [ "EEG with irregular generalized spike and wave complexes" ], "gold_answer": "EEG with generalized epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11570", "question": "What is associated with Increased neutrophil ribosomes?", "seeds": [ "Increased neutrophil ribosomes" ], "gold_answer": "Abnormality of neutrophils", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11571", "question": "What is associated with Usher syndrome type 1?", "seeds": [ "Usher syndrome type 1" ], "gold_answer": "Retinal dystrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11572", "question": "What is associated with Bowed humerus?", "seeds": [ "Bowed humerus" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11573", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 96?", "seeds": [ "Developmental and epileptic encephalopathy 96" ], "gold_answer": "Epileptic encephalopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11574", "question": "What is associated with Hypoplasia of the ovary?", "seeds": [ "Hypoplasia of the ovary" ], "gold_answer": "Abnormality of the ovary", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11575", "question": "What phenotype is associated with Short-Rib thoracic dysplasia 14 with polydactyly?", "seeds": [ "Short-Rib thoracic dysplasia 14 with polydactyly" ], "gold_answer": "Aplasia of the olfactory bulb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11576", "question": "What phenotype is associated with Brachyolmia, Maroteaux type?", "seeds": [ "Brachyolmia, Maroteaux type" ], "gold_answer": "Wide intermamillary distance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11577", "question": "What is associated with Polyarticular arthritis?", "seeds": [ "Polyarticular arthritis" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11578", "question": "What is associated with Diverticulosis of trachea?", "seeds": [ "Diverticulosis of trachea" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11579", "question": "What is associated with Atlantoaxial dislocation?", "seeds": [ "Atlantoaxial dislocation" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11580", "question": "What is associated with Increased circulating inosine concentration?", "seeds": [ "Increased circulating inosine concentration" ], "gold_answer": "Abnormal circulating purine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11581", "question": "What is associated with Positive urine infectious agent test?", "seeds": [ "Positive urine infectious agent test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11582", "question": "What is associated with Insulin receptor antibody positivity?", "seeds": [ "Insulin receptor antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11583", "question": "What is associated with Short middle phalanx of the 5th finger?", "seeds": [ "Short middle phalanx of the 5th finger" ], "gold_answer": "Short middle phalanx of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11584", "question": "What is associated with Increased sputum production?", "seeds": [ "Increased sputum production" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11585", "question": "What is associated with KLHL7-related Crisponi/cold-induced sweating-like syndrome?", "seeds": [ "KLHL7-related Crisponi/cold-induced sweating-like syndrome" ], "gold_answer": "KLHL7", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_11586", "question": "What is associated with Paranoia?", "seeds": [ "Paranoia" ], "gold_answer": "Cognitive distortion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11587", "question": "What is associated with Mucopolysaccharidosis, type II?", "seeds": [ "Mucopolysaccharidosis, type II" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11588", "question": "What phenotype is associated with Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency?", "seeds": [ "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency" ], "gold_answer": "Type I diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11589", "question": "What is associated with Facial paresis, hereditary congenital, 2?", "seeds": [ "Facial paresis, hereditary congenital, 2" ], "gold_answer": "Abnormality of facial musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11590", "question": "What is associated with Collier's sign?", "seeds": [ "Collier's sign" ], "gold_answer": "Eyelid retraction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11591", "question": "What is associated with Anti-TRIM46 antibody?", "seeds": [ "Anti-TRIM46 antibody" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11592", "question": "What is associated with Lipodystrophy, familial partial, type 3?", "seeds": [ "Lipodystrophy, familial partial, type 3" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11593", "question": "What is associated with Mosaic monosomy X syndrome?", "seeds": [ "Mosaic monosomy X syndrome" ], "gold_answer": "Abnormal diminished volition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11594", "question": "What is associated with Anhidrotic ectodermal dysplasia?", "seeds": [ "Anhidrotic ectodermal dysplasia" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11595", "question": "What is associated with Focal aware cognitive seizure with receptive dysphasia/aphasia?", "seeds": [ "Focal aware cognitive seizure with receptive dysphasia/aphasia" ], "gold_answer": "Focal cognitive seizure with receptive dysphasia/aphasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11596", "question": "What is associated with Autosomal recessive spastic paraplegia type 44?", "seeds": [ "Autosomal recessive spastic paraplegia type 44" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11597", "question": "What is associated with 9q21.13 microdeletion syndrome?", "seeds": [ "9q21.13 microdeletion syndrome" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11598", "question": "What is associated with Pigmented nodular adrenocortical disease, primary, 2?", "seeds": [ "Pigmented nodular adrenocortical disease, primary, 2" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11599", "question": "What is associated with SIX2-related frontonasal dysplasia?", "seeds": [ "SIX2-related frontonasal dysplasia" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11600", "question": "What is associated with Koebner Phenomenon?", "seeds": [ "Koebner Phenomenon" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11601", "question": "What is associated with Hypoplastic anterior commissure?", "seeds": [ "Hypoplastic anterior commissure" ], "gold_answer": "Abnormality of the anterior commissure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11602", "question": "What is associated with Cartilage-hair hypoplasia?", "seeds": [ "Cartilage-hair hypoplasia" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11603", "question": "What is associated with Focal-onset seizure evolving into bilateral convulsive status epilepticus?", "seeds": [ "Focal-onset seizure evolving into bilateral convulsive status epilepticus" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11604", "question": "What phenotype is associated with Thyroid hormone metabolism, abnormal, 3?", "seeds": [ "Thyroid hormone metabolism, abnormal, 3" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11605", "question": "What is associated with Osteolytic defect of thumb phalanx?", "seeds": [ "Osteolytic defect of thumb phalanx" ], "gold_answer": "Abnormality of thumb phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11606", "question": "What is associated with Iliac arterial calcification?", "seeds": [ "Iliac arterial calcification" ], "gold_answer": "Arterial calcification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11607", "question": "What is associated with Small epiphyses of the 5th toe?", "seeds": [ "Small epiphyses of the 5th toe" ], "gold_answer": "Small epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11608", "question": "What is associated with Alopecia, neurologic defects, and endocrinopathy syndrome?", "seeds": [ "Alopecia, neurologic defects, and endocrinopathy syndrome" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11609", "question": "What is associated with Aspirin-induced asthma?", "seeds": [ "Aspirin-induced asthma" ], "gold_answer": "Immunologic hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11610", "question": "What is associated with Microcephaly, short stature, and impaired glucose metabolism 2?", "seeds": [ "Microcephaly, short stature, and impaired glucose metabolism 2" ], "gold_answer": "Hypoglycemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11611", "question": "What phenotype is associated with Thiel-Behnke corneal dystrophy?", "seeds": [ "Thiel-Behnke corneal dystrophy" ], "gold_answer": "Astigmatism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11612", "question": "What is associated with Ectopic ovary?", "seeds": [ "Ectopic ovary" ], "gold_answer": "Abnormality of the ovary", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11613", "question": "What is associated with Variant ABeta2M amyloidosis?", "seeds": [ "Variant ABeta2M amyloidosis" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11614", "question": "What is associated with Jaw hyporeflexia?", "seeds": [ "Jaw hyporeflexia" ], "gold_answer": "Abnormality of jaw muscles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11615", "question": "What is associated with Venom allergy?", "seeds": [ "Venom allergy" ], "gold_answer": "Immunologic hypersensitivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11616", "question": "What is associated with Increased circulating interleukin 23 concentration?", "seeds": [ "Increased circulating interleukin 23 concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11617", "question": "What phenotype is associated with Congenital primary aphakia?", "seeds": [ "Congenital primary aphakia" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11618", "question": "What is associated with Hyaline fibromatosis syndrome?", "seeds": [ "Hyaline fibromatosis syndrome" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11619", "question": "What is associated with Thrombocytosis?", "seeds": [ "Thrombocytosis" ], "gold_answer": "Abnormality of thrombocytes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11620", "question": "What is associated with Focal impaired awareness cognitive seizure with deja vu/jamais vu?", "seeds": [ "Focal impaired awareness cognitive seizure with deja vu/jamais vu" ], "gold_answer": "Focal cognitive seizure with deja vu/jamais vu", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11621", "question": "What is associated with Leber congenital amaurosis, type I?", "seeds": [ "Leber congenital amaurosis, type I" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11622", "question": "What is associated with Precocious puberty in males?", "seeds": [ "Precocious puberty in males" ], "gold_answer": "Early onset of sexual maturation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11623", "question": "What is associated with Headache?", "seeds": [ "Headache" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11624", "question": "What is associated with Lichtenstein-Knorr syndrome?", "seeds": [ "Lichtenstein-Knorr syndrome" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11625", "question": "What is associated with Congenital onset?", "seeds": [ "Congenital onset" ], "gold_answer": "Clinical course", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11626", "question": "What is associated with Chin with vertical crease?", "seeds": [ "Chin with vertical crease" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11627", "question": "What is associated with Congenital hydrocephalus?", "seeds": [ "Congenital hydrocephalus" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11628", "question": "What is associated with Fetal nuchal edema?", "seeds": [ "Fetal nuchal edema" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11629", "question": "What is associated with Abnormal gonadotropin-releasing hormone concentration?", "seeds": [ "Abnormal gonadotropin-releasing hormone concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11630", "question": "What is associated with Enlarged flash visual evoked potentials?", "seeds": [ "Enlarged flash visual evoked potentials" ], "gold_answer": "Abnormality of visual evoked potentials", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11631", "question": "What is associated with Slowed horizontal saccades?", "seeds": [ "Slowed horizontal saccades" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11632", "question": "What is associated with Autosomal dominant Charcot-Marie-Tooth disease type 2B?", "seeds": [ "Autosomal dominant Charcot-Marie-Tooth disease type 2B" ], "gold_answer": "RAB7A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_11633", "question": "What is associated with Pancreatic agenesis and congenital heart defects?", "seeds": [ "Pancreatic agenesis and congenital heart defects" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11634", "question": "What is associated with Positive bloodstream Borrelia miyamotoi nucleic acid test?", "seeds": [ "Positive bloodstream Borrelia miyamotoi nucleic acid test" ], "gold_answer": "Positive bloodstream nucleic acid pathogen test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11635", "question": "What is associated with Hyperostosis?", "seeds": [ "Hyperostosis" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11636", "question": "What is associated with Cystic pattern on pulmonary HRCT?", "seeds": [ "Cystic pattern on pulmonary HRCT" ], "gold_answer": "Pulmonary interstitial high-resolution computed tomography abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11637", "question": "What phenotype is associated with Aneurysm, intracranial berry, 1?", "seeds": [ "Aneurysm, intracranial berry, 1" ], "gold_answer": "Intracranial hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11638", "question": "What is associated with Congenital plasminogen activator inhibitor type 1 deficiency?", "seeds": [ "Congenital plasminogen activator inhibitor type 1 deficiency" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11639", "question": "What is associated with Hypoglycemia of infancy, leucine-sensitive?", "seeds": [ "Hypoglycemia of infancy, leucine-sensitive" ], "gold_answer": "Reduced consciousness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11640", "question": "What is associated with Toe syndactyly?", "seeds": [ "Toe syndactyly" ], "gold_answer": "Syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11641", "question": "What phenotype is associated with Hawkinsinuria?", "seeds": [ "Hawkinsinuria" ], "gold_answer": "Abnormality of tyrosine metabolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11642", "question": "What is associated with Partial hyposmia?", "seeds": [ "Partial hyposmia" ], "gold_answer": "Abnormality of the sense of smell", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11643", "question": "What is associated with Chess-pawn distal phalanges?", "seeds": [ "Chess-pawn distal phalanges" ], "gold_answer": "Abnormal distal phalanx morphology of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11644", "question": "What is associated with Fixated interest with abnormal intensity?", "seeds": [ "Fixated interest with abnormal intensity" ], "gold_answer": "Restricted or repetitive behaviors or interests", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11645", "question": "What is associated with Glaucoma - sleep apnea?", "seeds": [ "Glaucoma - sleep apnea" ], "gold_answer": "Sleep-related breathing disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11646", "question": "What is associated with Absent ossification of the trapezium?", "seeds": [ "Absent ossification of the trapezium" ], "gold_answer": "Abnormal trapezium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11647", "question": "What is associated with Thickened elastic fibers in the dermis?", "seeds": [ "Thickened elastic fibers in the dermis" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11648", "question": "What is associated with Dwarfism with tall vertebrae?", "seeds": [ "Dwarfism with tall vertebrae" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11649", "question": "What is associated with Abnormal vestibulo-ocular reflex?", "seeds": [ "Abnormal vestibulo-ocular reflex" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11650", "question": "What is associated with Status post organ transplantation?", "seeds": [ "Status post organ transplantation" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11651", "question": "What is associated with Protein avoidance?", "seeds": [ "Protein avoidance" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11652", "question": "What is associated with Dimple chin?", "seeds": [ "Dimple chin" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11653", "question": "What is associated with Breast mass?", "seeds": [ "Breast mass" ], "gold_answer": "Abnormal breast morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11654", "question": "What is associated with Chronic metabolic acidosis?", "seeds": [ "Chronic metabolic acidosis" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11655", "question": "What is associated with Decreased circulating free T4 concentration?", "seeds": [ "Decreased circulating free T4 concentration" ], "gold_answer": "Abnormal circulating free T4 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11656", "question": "What is associated with Abnormal fifth toe morphology?", "seeds": [ "Abnormal fifth toe morphology" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11657", "question": "What is associated with Gastric hypertrophy?", "seeds": [ "Gastric hypertrophy" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11658", "question": "What is associated with Elevated circulating alpha-oxoadipic acid concentration?", "seeds": [ "Elevated circulating alpha-oxoadipic acid concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11659", "question": "What is associated with Hyperpolarized transepithelial nasal potential difference?", "seeds": [ "Hyperpolarized transepithelial nasal potential difference" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11660", "question": "What is associated with Facial erythema?", "seeds": [ "Facial erythema" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11661", "question": "What phenotype is associated with Nephrotic syndrome, type 13?", "seeds": [ "Nephrotic syndrome, type 13" ], "gold_answer": "Stage 5 chronic kidney disease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11662", "question": "What is associated with Increased size of nasopharyngeal adenoids?", "seeds": [ "Increased size of nasopharyngeal adenoids" ], "gold_answer": "Abnormal size of nasopharyngeal adenoids", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11663", "question": "What is associated with Trichothiodystrophy 6, nonphotosensitive?", "seeds": [ "Trichothiodystrophy 6, nonphotosensitive" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11664", "question": "What is associated with Optic disc drusen?", "seeds": [ "Optic disc drusen" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11665", "question": "What phenotype is associated with Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome?", "seeds": [ "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome" ], "gold_answer": "Nausea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11666", "question": "What is associated with Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome?", "seeds": [ "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome" ], "gold_answer": "FAM111B", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_11667", "question": "What is associated with HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome?", "seeds": [ "HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome" ], "gold_answer": "HSPB8", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_11668", "question": "What is associated with Male sexual dysfunction?", "seeds": [ "Male sexual dysfunction" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11669", "question": "What is associated with Indurated nodule?", "seeds": [ "Indurated nodule" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11670", "question": "What is associated with Supraauricular pit?", "seeds": [ "Supraauricular pit" ], "gold_answer": "Periauricular skin pits", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11671", "question": "What is associated with Hypomagnesiuria?", "seeds": [ "Hypomagnesiuria" ], "gold_answer": "Abnormal urine magnesium concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11672", "question": "What is associated with Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive?", "seeds": [ "Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11673", "question": "What is associated with Bacterial encephalitis?", "seeds": [ "Bacterial encephalitis" ], "gold_answer": "Unusual CNS infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11674", "question": "What is associated with Lipodystrophy, familial partial, type 4?", "seeds": [ "Lipodystrophy, familial partial, type 4" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11675", "question": "What is associated with Focal motor seizure?", "seeds": [ "Focal motor seizure" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11676", "question": "What phenotype is associated with Premature ovarian failure 14?", "seeds": [ "Premature ovarian failure 14" ], "gold_answer": "Primary amenorrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11677", "question": "What phenotype is associated with Maturity-onset diabetes of the young, type III?", "seeds": [ "Maturity-onset diabetes of the young, type III" ], "gold_answer": "Type II diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11678", "question": "What is associated with Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease?", "seeds": [ "Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease" ], "gold_answer": "Abnormal location of ears", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11679", "question": "What phenotype is associated with Severe combined immunodeficiency due to complete RAG1/2 deficiency?", "seeds": [ "Severe combined immunodeficiency due to complete RAG1/2 deficiency" ], "gold_answer": "Lymphadenitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11680", "question": "What is associated with Peroxisome biogenesis disorder 5B?", "seeds": [ "Peroxisome biogenesis disorder 5B" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11681", "question": "What is associated with Talipes varus?", "seeds": [ "Talipes varus" ], "gold_answer": "Abnormality of the ankle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11682", "question": "What phenotype is associated with Palmoplantar keratoderma-esophageal carcinoma syndrome?", "seeds": [ "Palmoplantar keratoderma-esophageal carcinoma syndrome" ], "gold_answer": "Abnormal esophagus physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11683", "question": "What is associated with Congenital hypothyroidism?", "seeds": [ "Congenital hypothyroidism" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11684", "question": "What is associated with Hyperlipoproteinemia?", "seeds": [ "Hyperlipoproteinemia" ], "gold_answer": "Abnormality of lipoprotein cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11685", "question": "What is associated with 3-methylglutaconic aciduria type 9?", "seeds": [ "3-methylglutaconic aciduria type 9" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11686", "question": "What phenotype is associated with Spondylo-ocular syndrome?", "seeds": [ "Spondylo-ocular syndrome" ], "gold_answer": "Myopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11687", "question": "What is associated with Macular hole?", "seeds": [ "Macular hole" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11688", "question": "What is associated with Microphthalmia/coloboma 13?", "seeds": [ "Microphthalmia/coloboma 13" ], "gold_answer": "Abnormality of corneal size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11689", "question": "What is associated with Short-rib thoracic dysplasia 21 without polydactyly?", "seeds": [ "Short-rib thoracic dysplasia 21 without polydactyly" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11690", "question": "What is associated with Anterior cervical hypertrichosis?", "seeds": [ "Anterior cervical hypertrichosis" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11691", "question": "What is associated with Small epiphyses?", "seeds": [ "Small epiphyses" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11692", "question": "What phenotype is associated with Non-distal duplication 13q syndrome?", "seeds": [ "Non-distal duplication 13q syndrome" ], "gold_answer": "Thin vermilion border", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11693", "question": "What is associated with Duplication of the distal phalanx of the 5th finger?", "seeds": [ "Duplication of the distal phalanx of the 5th finger" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11694", "question": "What is associated with Peeling skin syndrome 3?", "seeds": [ "Peeling skin syndrome 3" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11695", "question": "What is associated with Fractured metatarsal bone of digit 1?", "seeds": [ "Fractured metatarsal bone of digit 1" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11696", "question": "What is associated with Inferior cerebellar vermis hypoplasia?", "seeds": [ "Inferior cerebellar vermis hypoplasia" ], "gold_answer": "Cerebellar hypoplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11697", "question": "What is associated with Brachytelephalangic chondrodysplasia punctata?", "seeds": [ "Brachytelephalangic chondrodysplasia punctata" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11698", "question": "What is associated with Abnormality of the vitamin B3 metabolism?", "seeds": [ "Abnormality of the vitamin B3 metabolism" ], "gold_answer": "Abnormality of vitamin B metabolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11699", "question": "What is associated with Low phospholipid-associated cholelithiasis?", "seeds": [ "Low phospholipid-associated cholelithiasis" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11700", "question": "What is associated with Proximal symphalangism?", "seeds": [ "Proximal symphalangism" ], "gold_answer": "Abnormal elbow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11701", "question": "What is associated with Abnormal conjugate eye movement?", "seeds": [ "Abnormal conjugate eye movement" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11702", "question": "What is associated with Decreased CSF amyloid concentration?", "seeds": [ "Decreased CSF amyloid concentration" ], "gold_answer": "Abnormal CSF amyloid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11703", "question": "What is associated with Abnormal number of tubercles?", "seeds": [ "Abnormal number of tubercles" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11704", "question": "What is associated with Positive bloodstream adenovirus nucleic acid test?", "seeds": [ "Positive bloodstream adenovirus nucleic acid test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11705", "question": "What is associated with Reduced ratio of renal calcium clearance to creatinine clearance?", "seeds": [ "Reduced ratio of renal calcium clearance to creatinine clearance" ], "gold_answer": "Abnormality of urine calcium concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11706", "question": "What is associated with Charcot-Marie-Tooth disease type 2B2?", "seeds": [ "Charcot-Marie-Tooth disease type 2B2" ], "gold_answer": "PNKP", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_11707", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5" ], "gold_answer": "Myoglobinuria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11708", "question": "What is associated with Abnormal naive T cell proportion?", "seeds": [ "Abnormal naive T cell proportion" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11709", "question": "What is associated with Small epiphyses of the 2nd finger?", "seeds": [ "Small epiphyses of the 2nd finger" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11710", "question": "What is associated with Rahman syndrome?", "seeds": [ "Rahman syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11711", "question": "What is associated with Verrucous cell carcinoma of the tongue?", "seeds": [ "Verrucous cell carcinoma of the tongue" ], "gold_answer": "Abnormality of the tongue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11712", "question": "What is associated with Combined oxidative phosphorylation deficiency 20?", "seeds": [ "Combined oxidative phosphorylation deficiency 20" ], "gold_answer": "EEG with generalized epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11713", "question": "What is associated with Osteogenesis imperfecta type 5?", "seeds": [ "Osteogenesis imperfecta type 5" ], "gold_answer": "IFITM5", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_11714", "question": "What is associated with Alzheimer disease 9, susceptibility to?", "seeds": [ "Alzheimer disease 9, susceptibility to" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11715", "question": "What is associated with Penile thrush?", "seeds": [ "Penile thrush" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11716", "question": "What is associated with Increased hepatic glycogen content?", "seeds": [ "Increased hepatic glycogen content" ], "gold_answer": "Abnormal hepatic glycogen storage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11717", "question": "What is associated with Bleeding disorder, vascular-type?", "seeds": [ "Bleeding disorder, vascular-type" ], "gold_answer": "Abnormal female reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11718", "question": "What is associated with Abnormal oral mucosa morphology?", "seeds": [ "Abnormal oral mucosa morphology" ], "gold_answer": "Abnormality of the mouth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11719", "question": "What is associated with Elevated CSF DOPA concentration?", "seeds": [ "Elevated CSF DOPA concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11720", "question": "What is associated with Muscle fiber actin filament accumulation?", "seeds": [ "Muscle fiber actin filament accumulation" ], "gold_answer": "Pathological inclusion body", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11721", "question": "What is associated with Elevated circulating E selectin level?", "seeds": [ "Elevated circulating E selectin level" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11722", "question": "What is associated with Partial duplication of the phalanges of the 5th finger?", "seeds": [ "Partial duplication of the phalanges of the 5th finger" ], "gold_answer": "Partial duplication of the phalanx of hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11723", "question": "What is associated with POMT2-related limb-girdle muscular dystrophy R14?", "seeds": [ "POMT2-related limb-girdle muscular dystrophy R14" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11724", "question": "What is associated with Aortic medial fibrosis?", "seeds": [ "Aortic medial fibrosis" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11725", "question": "What phenotype is associated with Seizures, benign familial neonatal, 1?", "seeds": [ "Seizures, benign familial neonatal, 1" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11726", "question": "What phenotype is associated with D-lactic aciduria with susceptibility to gout?", "seeds": [ "D-lactic aciduria with susceptibility to gout" ], "gold_answer": "Aniridia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11727", "question": "What is associated with Retinal degeneration-nanophthalmos-glaucoma syndrome?", "seeds": [ "Retinal degeneration-nanophthalmos-glaucoma syndrome" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11728", "question": "What phenotype is associated with Night blindness, congenital stationary, autosomal dominant 3?", "seeds": [ "Night blindness, congenital stationary, autosomal dominant 3" ], "gold_answer": "Early-onset non-progressive night blindness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11729", "question": "What is associated with Abnormality of the epiphyses of the 4th finger?", "seeds": [ "Abnormality of the epiphyses of the 4th finger" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11730", "question": "What is associated with Prader-Willi syndrome due to paternal 15q11q13 deletion?", "seeds": [ "Prader-Willi syndrome due to paternal 15q11q13 deletion" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11731", "question": "What is associated with Posterior scalloping of vertebral bodies?", "seeds": [ "Posterior scalloping of vertebral bodies" ], "gold_answer": "Biconcave vertebral bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11732", "question": "What is associated with Partial absence of finger?", "seeds": [ "Partial absence of finger" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11733", "question": "What is associated with Slender nose?", "seeds": [ "Slender nose" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11734", "question": "What is associated with Testicular teratoma?", "seeds": [ "Testicular teratoma" ], "gold_answer": "Genital neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11735", "question": "What is associated with Elevated urine propionic acid level?", "seeds": [ "Elevated urine propionic acid level" ], "gold_answer": "Organic aciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11736", "question": "What is associated with Distal radial epiphyseal osteolysis?", "seeds": [ "Distal radial epiphyseal osteolysis" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11737", "question": "What is associated with Segmental fracture?", "seeds": [ "Segmental fracture" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11738", "question": "What is associated with Auditory sensitivity?", "seeds": [ "Auditory sensitivity" ], "gold_answer": "Sensory behavioral abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11739", "question": "What is associated with Gallop rhythm?", "seeds": [ "Gallop rhythm" ], "gold_answer": "Abnormal heart sound", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11740", "question": "What is associated with Hirschsprung disease, susceptibility to, 5?", "seeds": [ "Hirschsprung disease, susceptibility to, 5" ], "gold_answer": "Abnormal large intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11741", "question": "What is associated with Megalencephalic leukoencephalopathy with subcortical cysts 1?", "seeds": [ "Megalencephalic leukoencephalopathy with subcortical cysts 1" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11742", "question": "What is associated with Anti-GM4 antibody positivity?", "seeds": [ "Anti-GM4 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11743", "question": "What is associated with Conjunctival follicles?", "seeds": [ "Conjunctival follicles" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11744", "question": "What is associated with Cortical radial artery foam cell hypercellularity?", "seeds": [ "Cortical radial artery foam cell hypercellularity" ], "gold_answer": "Cortical radial artery leukocyte hypercellularity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11745", "question": "What phenotype is associated with Encephalopathy, familial, with neuroserpin inclusion bodies?", "seeds": [ "Encephalopathy, familial, with neuroserpin inclusion bodies" ], "gold_answer": "Distal sensory impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11746", "question": "What is associated with Vitamin K antagonist embryofetopathy?", "seeds": [ "Vitamin K antagonist embryofetopathy" ], "gold_answer": "Open neural tube defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11747", "question": "What is associated with Decreased proportion of marginal zone B cells?", "seeds": [ "Decreased proportion of marginal zone B cells" ], "gold_answer": "Abnormal memory B cell proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11748", "question": "What is associated with Abnormality of cervical plexus?", "seeds": [ "Abnormality of cervical plexus" ], "gold_answer": "Abnormality of somatic nerve plexus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11749", "question": "What is associated with Amyloidosis, cutaneous bullous?", "seeds": [ "Amyloidosis, cutaneous bullous" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11750", "question": "What is associated with Focal autonomic seizure?", "seeds": [ "Focal autonomic seizure" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11751", "question": "What is associated with Angel-Shaped phalangoepiphyseal dysplasia?", "seeds": [ "Angel-Shaped phalangoepiphyseal dysplasia" ], "gold_answer": "Osteoarthritis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11752", "question": "What is associated with Acrorenal-Mandibular syndrome?", "seeds": [ "Acrorenal-Mandibular syndrome" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11753", "question": "What is associated with Cleft, median, of upper lip with polyps of facial skin and nasal mucosa?", "seeds": [ "Cleft, median, of upper lip with polyps of facial skin and nasal mucosa" ], "gold_answer": "Abnormality of globe location", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11754", "question": "What is associated with Hyporeflexia?", "seeds": [ "Hyporeflexia" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11755", "question": "What phenotype is associated with CAOP syndrome?", "seeds": [ "CAOP syndrome" ], "gold_answer": "Myopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11756", "question": "What is associated with Typified by incomplete penetrance?", "seeds": [ "Typified by incomplete penetrance" ], "gold_answer": "Inheritance qualifier", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11757", "question": "What is associated with Retinal gliosis?", "seeds": [ "Retinal gliosis" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11758", "question": "What is associated with Widely spaced teeth?", "seeds": [ "Widely spaced teeth" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11759", "question": "What is associated with Female external genitalia in individual with 46,XY karyotype?", "seeds": [ "Female external genitalia in individual with 46,XY karyotype" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11760", "question": "What is associated with Impaired cortisol response to insulin stimulation test?", "seeds": [ "Impaired cortisol response to insulin stimulation test" ], "gold_answer": "Abnormal response to insulin tolerance test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11761", "question": "What is associated with Spondylometaphyseal dysplasia, Kozlowski type?", "seeds": [ "Spondylometaphyseal dysplasia, Kozlowski type" ], "gold_answer": "Skeletal dysplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11762", "question": "What phenotype is associated with Loeys-Dietz syndrome 5?", "seeds": [ "Loeys-Dietz syndrome 5" ], "gold_answer": "Long palpebral fissure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11763", "question": "What is associated with Dilatation of celiac artery?", "seeds": [ "Dilatation of celiac artery" ], "gold_answer": "Dilatation of an abdominal artery", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11764", "question": "What is associated with Abnormal buccal mucosa cell morphology?", "seeds": [ "Abnormal buccal mucosa cell morphology" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11765", "question": "What is associated with Centrally nucleated skeletal muscle fibers?", "seeds": [ "Centrally nucleated skeletal muscle fibers" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11766", "question": "What is associated with Neuropathy, hereditary sensory, type ID?", "seeds": [ "Neuropathy, hereditary sensory, type ID" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11767", "question": "What is associated with Ameliorated by ethanol ingestion?", "seeds": [ "Ameliorated by ethanol ingestion" ], "gold_answer": "Ameliorated by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11768", "question": "What is associated with Renal cortical microcysts?", "seeds": [ "Renal cortical microcysts" ], "gold_answer": "Renal cortical cysts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11769", "question": "What is associated with Anti-alanyl-tRNA synthetase antibody positivity?", "seeds": [ "Anti-alanyl-tRNA synthetase antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11770", "question": "What is associated with Bitemporal hollowing?", "seeds": [ "Bitemporal hollowing" ], "gold_answer": "Abnormality of the periorbital region", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11771", "question": "What is associated with Abnormal endocrine morphology?", "seeds": [ "Abnormal endocrine morphology" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11772", "question": "What is associated with Osteochondromyxoma?", "seeds": [ "Osteochondromyxoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11773", "question": "What is associated with Mitochondrial complex III deficiency, nuclear type 6?", "seeds": [ "Mitochondrial complex III deficiency, nuclear type 6" ], "gold_answer": "Decreased liver function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11774", "question": "What is associated with Muscular dystrophy, limb-girdle, type 2A?", "seeds": [ "Muscular dystrophy, limb-girdle, type 2A" ], "gold_answer": "Abnormal seventh cranial physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11775", "question": "What is associated with Aplasia of the left hemidiaphragm?", "seeds": [ "Aplasia of the left hemidiaphragm" ], "gold_answer": "Congenital diaphragmatic hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11776", "question": "What is associated with Congenital disorder of glycosylation with defective fucosylation 2?", "seeds": [ "Congenital disorder of glycosylation with defective fucosylation 2" ], "gold_answer": "Aggravated by", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11777", "question": "What is associated with Premature epimetaphyseal fusion in tibia?", "seeds": [ "Premature epimetaphyseal fusion in tibia" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11778", "question": "What is associated with Aland island eye disease?", "seeds": [ "Aland island eye disease" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11779", "question": "What phenotype is associated with Muenke syndrome?", "seeds": [ "Muenke syndrome" ], "gold_answer": "Radial deviation of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11780", "question": "What is associated with Decreased mixed venous oxygen saturation?", "seeds": [ "Decreased mixed venous oxygen saturation" ], "gold_answer": "Abnormal blood oxygen level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11781", "question": "What is associated with Use of intrauterine device?", "seeds": [ "Use of intrauterine device" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11782", "question": "What phenotype is associated with Symphalangism with multiple anomalies of hands and feet?", "seeds": [ "Symphalangism with multiple anomalies of hands and feet" ], "gold_answer": "Abnormal dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11783", "question": "What is associated with Abnormal mitochondrial number?", "seeds": [ "Abnormal mitochondrial number" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11784", "question": "What is associated with Bracket epiphysis of the distal phalanx of the thumb?", "seeds": [ "Bracket epiphysis of the distal phalanx of the thumb" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11785", "question": "What phenotype is associated with Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases?", "seeds": [ "Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases" ], "gold_answer": "Mitral valve prolapse", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11786", "question": "What is associated with Fractured cervical vertebra?", "seeds": [ "Fractured cervical vertebra" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11787", "question": "What is associated with Hypoplasia of the radius?", "seeds": [ "Hypoplasia of the radius" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11788", "question": "What is associated with Disseminated cryptosporidium infection?", "seeds": [ "Disseminated cryptosporidium infection" ], "gold_answer": "Opportunistic infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11789", "question": "What is associated with Neurodevelopmental disorder with spastic diplegia and visual defects?", "seeds": [ "Neurodevelopmental disorder with spastic diplegia and visual defects" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11790", "question": "What is associated with Hyperactivity?", "seeds": [ "Hyperactivity" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11791", "question": "What is associated with Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5?", "seeds": [ "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11792", "question": "What is associated with Facial synkinesis?", "seeds": [ "Facial synkinesis" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11793", "question": "What is associated with Symmetric great toe depigmentation?", "seeds": [ "Symmetric great toe depigmentation" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11794", "question": "What is associated with Loss of consciousness?", "seeds": [ "Loss of consciousness" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11795", "question": "What is associated with Loss of facial adipose tissue?", "seeds": [ "Loss of facial adipose tissue" ], "gold_answer": "Adipose tissue loss", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11796", "question": "What is associated with Craniosynostosis, Philadelphia type?", "seeds": [ "Craniosynostosis, Philadelphia type" ], "gold_answer": "Abnormal cranial suture/fontanelle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11797", "question": "What is associated with Spastic ataxia 11, autosomal dominant?", "seeds": [ "Spastic ataxia 11, autosomal dominant" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11798", "question": "What is associated with Small posterior fossa?", "seeds": [ "Small posterior fossa" ], "gold_answer": "Abnormal posterior cranial fossa morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11799", "question": "What is associated with Congenital lactic acidosis?", "seeds": [ "Congenital lactic acidosis" ], "gold_answer": "Lactic acidosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11800", "question": "What is associated with Imperforate atrioventricular valve?", "seeds": [ "Imperforate atrioventricular valve" ], "gold_answer": "Abnormal heart valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11801", "question": "What is associated with Pseudobulbar affect?", "seeds": [ "Pseudobulbar affect" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11802", "question": "What is associated with Multiple prenatal fractures?", "seeds": [ "Multiple prenatal fractures" ], "gold_answer": "Increased susceptibility to fractures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11803", "question": "What is associated with 19p13.12 microdeletion syndrome?", "seeds": [ "19p13.12 microdeletion syndrome" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11804", "question": "What is associated with Septo-optic dysplasia spectrum?", "seeds": [ "Septo-optic dysplasia spectrum" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11805", "question": "What is associated with Abnormal tympanic membrane morphology?", "seeds": [ "Abnormal tympanic membrane morphology" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11806", "question": "What is associated with Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies?", "seeds": [ "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies" ], "gold_answer": "LTBP4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_train_11807", "question": "What phenotype is associated with Arima syndrome?", "seeds": [ "Arima syndrome" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11808", "question": "What is associated with Anti-Iglon5 antibody?", "seeds": [ "Anti-Iglon5 antibody" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11809", "question": "What is associated with Elevated circulating butyrylcarnitine concentration?", "seeds": [ "Elevated circulating butyrylcarnitine concentration" ], "gold_answer": "Elevated circulating C4 acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11810", "question": "What is associated with Aplasia/Hypoplasia of the proximal phalanx of the 5th finger?", "seeds": [ "Aplasia/Hypoplasia of the proximal phalanx of the 5th finger" ], "gold_answer": "Abnormal 5th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11811", "question": "What is associated with Spermatogenic failure 13?", "seeds": [ "Spermatogenic failure 13" ], "gold_answer": "Abnormal spermatogenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11812", "question": "What is associated with Accumulation of muscle fiber myotilin?", "seeds": [ "Accumulation of muscle fiber myotilin" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11813", "question": "What is associated with Skeletal muscle hypertrophy?", "seeds": [ "Skeletal muscle hypertrophy" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11814", "question": "What is associated with Amyloidosis, Finnish type?", "seeds": [ "Amyloidosis, Finnish type" ], "gold_answer": "Hypotension", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11815", "question": "What is associated with Pigment incontinence?", "seeds": [ "Pigment incontinence" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11816", "question": "What is associated with Abnormal cognitive process?", "seeds": [ "Abnormal cognitive process" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11817", "question": "What is associated with Abnormal male internal genitalia morphology?", "seeds": [ "Abnormal male internal genitalia morphology" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11818", "question": "What is associated with Oculocerebrofacial syndrome, Kaufman type?", "seeds": [ "Oculocerebrofacial syndrome, Kaufman type" ], "gold_answer": "Increased size of the clitoris", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11819", "question": "What phenotype is associated with Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11820", "question": "What is associated with Spinocerebellar tract degeneration?", "seeds": [ "Spinocerebellar tract degeneration" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11821", "question": "What is associated with Spinal muscular atrophy, Jokela type?", "seeds": [ "Spinal muscular atrophy, Jokela type" ], "gold_answer": "Muscle hypertrophy of the lower extremities", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11822", "question": "What is associated with Methylmalonic aciduria, transient, due to transcobalamin receptor defect?", "seeds": [ "Methylmalonic aciduria, transient, due to transcobalamin receptor defect" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11823", "question": "What is associated with Vulval varicose vein?", "seeds": [ "Vulval varicose vein" ], "gold_answer": "Abnormal female external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11824", "question": "What is associated with Abnormal pancreas size?", "seeds": [ "Abnormal pancreas size" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11825", "question": "What is associated with Speech apraxia?", "seeds": [ "Speech apraxia" ], "gold_answer": "Apraxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11826", "question": "What is associated with Rubinstein-Taybi syndrome 1?", "seeds": [ "Rubinstein-Taybi syndrome 1" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11827", "question": "What is associated with Decreased circulating gonadotropin concentration?", "seeds": [ "Decreased circulating gonadotropin concentration" ], "gold_answer": "Abnormal circulating gonadotropin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11828", "question": "What is associated with Stankiewicz-Isidor syndrome?", "seeds": [ "Stankiewicz-Isidor syndrome" ], "gold_answer": "Agenesis of permanent molar", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11829", "question": "What is associated with Multiple bilateral pneumothoraces?", "seeds": [ "Multiple bilateral pneumothoraces" ], "gold_answer": "Pneumothorax", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11830", "question": "What is associated with Chronic bilirubin encephalopathy?", "seeds": [ "Chronic bilirubin encephalopathy" ], "gold_answer": "Dermatological manifestations of systemic disorders", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11831", "question": "What is associated with Increased CSF methionine concentration?", "seeds": [ "Increased CSF methionine concentration" ], "gold_answer": "Abnormal CSF aspartate family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11832", "question": "What phenotype is associated with Developmental malformations-deafness-dystonia syndrome?", "seeds": [ "Developmental malformations-deafness-dystonia syndrome" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11833", "question": "What is associated with Elevated mitochondrial citrate synthase activity?", "seeds": [ "Elevated mitochondrial citrate synthase activity" ], "gold_answer": "Abnormal enzyme activity in muscle tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11834", "question": "What is associated with Widened metacarpal shaft?", "seeds": [ "Widened metacarpal shaft" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11835", "question": "What is associated with Alveolar ridge overgrowth?", "seeds": [ "Alveolar ridge overgrowth" ], "gold_answer": "Abnormal alveolar ridge morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11836", "question": "What is associated with Repetitive compulsive behavior?", "seeds": [ "Repetitive compulsive behavior" ], "gold_answer": "Restricted or repetitive behaviors or interests", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11837", "question": "What is associated with Abnormal circulating heparan sulfate level?", "seeds": [ "Abnormal circulating heparan sulfate level" ], "gold_answer": "Abnormal circulating carbohydrate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11838", "question": "What is associated with Narrow pelvis bone?", "seeds": [ "Narrow pelvis bone" ], "gold_answer": "Abnormal pelvis bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11839", "question": "What is associated with Central scotoma?", "seeds": [ "Central scotoma" ], "gold_answer": "Scotoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11840", "question": "What is associated with Elevated urinary indoleacetic acid level?", "seeds": [ "Elevated urinary indoleacetic acid level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11841", "question": "What is associated with Limited foot inversion?", "seeds": [ "Limited foot inversion" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11842", "question": "What is associated with Superficial CNS hemosiderin deposition?", "seeds": [ "Superficial CNS hemosiderin deposition" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11843", "question": "What phenotype is associated with Robin sequence-oligodactyly syndrome?", "seeds": [ "Robin sequence-oligodactyly syndrome" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11844", "question": "What is associated with Abnormal lateral semicircular canal morphology?", "seeds": [ "Abnormal lateral semicircular canal morphology" ], "gold_answer": "Abnormal inner ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11845", "question": "What is associated with Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter?", "seeds": [ "Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11846", "question": "What is associated with Discordant atrioventricular connection?", "seeds": [ "Discordant atrioventricular connection" ], "gold_answer": "Abnormal connection of the cardiac segments", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11847", "question": "What phenotype is associated with Charcot-Marie-Tooth disease type 1B?", "seeds": [ "Charcot-Marie-Tooth disease type 1B" ], "gold_answer": "Peripheral axonal neuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11848", "question": "What is associated with Vaginal fish odor?", "seeds": [ "Vaginal fish odor" ], "gold_answer": "Body odor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11849", "question": "What is associated with Sandal gap?", "seeds": [ "Sandal gap" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11850", "question": "What is associated with Abnormality of fibrinolysis?", "seeds": [ "Abnormality of fibrinolysis" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11851", "question": "What is associated with Complete duplication of the phalanges of the 3rd finger?", "seeds": [ "Complete duplication of the phalanges of the 3rd finger" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11852", "question": "What phenotype is associated with Multiple system atrophy 1, susceptibility to?", "seeds": [ "Multiple system atrophy 1, susceptibility to" ], "gold_answer": "Urinary incontinence", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11853", "question": "What is associated with Waardenburg syndrome type 3?", "seeds": [ "Waardenburg syndrome type 3" ], "gold_answer": "Generalized hypopigmentation of hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11854", "question": "What is associated with Elevated cancer Ag 19-9 level?", "seeds": [ "Elevated cancer Ag 19-9 level" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11855", "question": "What is associated with Myositis?", "seeds": [ "Myositis" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11856", "question": "What is associated with Pontine tegmental cap?", "seeds": [ "Pontine tegmental cap" ], "gold_answer": "Abnormal pons morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11857", "question": "What phenotype is associated with Osteopetrosis, autosomal recessive 3?", "seeds": [ "Osteopetrosis, autosomal recessive 3" ], "gold_answer": "Dental malocclusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11858", "question": "What phenotype is associated with Autoinflammation, panniculitis, and dermatosis syndrome?", "seeds": [ "Autoinflammation, panniculitis, and dermatosis syndrome" ], "gold_answer": "Increased CD4+ T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11859", "question": "What phenotype is associated with Microphthalmia, syndromic 3?", "seeds": [ "Microphthalmia, syndromic 3" ], "gold_answer": "Hemivertebrae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11860", "question": "What is associated with Aplasia of the proximal phalanx of the 4th toe?", "seeds": [ "Aplasia of the proximal phalanx of the 4th toe" ], "gold_answer": "Aplasia/hypoplasia of proximal toe phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11861", "question": "What is associated with Addictive amphetamine use?", "seeds": [ "Addictive amphetamine use" ], "gold_answer": "Addictive substance use", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11862", "question": "What is associated with Progressive myoclonic epilepsy with dystonia?", "seeds": [ "Progressive myoclonic epilepsy with dystonia" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11863", "question": "What is associated with Talipes equinovarus?", "seeds": [ "Talipes equinovarus" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11864", "question": "What phenotype is associated with Neutrophilic dermatosis, acute febrile?", "seeds": [ "Neutrophilic dermatosis, acute febrile" ], "gold_answer": "Skin vesicle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11865", "question": "What is associated with Glaucoma 1, open angle, F?", "seeds": [ "Glaucoma 1, open angle, F" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11866", "question": "What is associated with Scanning speech?", "seeds": [ "Scanning speech" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11867", "question": "What is associated with Diminished PMS2 expression?", "seeds": [ "Diminished PMS2 expression" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11868", "question": "What is associated with Spermatogenic failure 15?", "seeds": [ "Spermatogenic failure 15" ], "gold_answer": "Abnormal circulating sex hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11869", "question": "What is associated with Neuropathy, hereditary sensory and autonomic, type II?", "seeds": [ "Neuropathy, hereditary sensory and autonomic, type II" ], "gold_answer": "Increased susceptibility to fractures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11870", "question": "What is associated with Conjugated hyperbilirubinemia?", "seeds": [ "Conjugated hyperbilirubinemia" ], "gold_answer": "Hyperbilirubinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11871", "question": "What phenotype is associated with Dihydropyrimidine dehydrogenase deficiency?", "seeds": [ "Dihydropyrimidine dehydrogenase deficiency" ], "gold_answer": "Reduced dihydropyrimidine dehydrogenase level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11872", "question": "What is associated with ANK3-related intellectual disability-sleep disturbance syndrome?", "seeds": [ "ANK3-related intellectual disability-sleep disturbance syndrome" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11873", "question": "What is associated with Mitral valve leaflet calcification?", "seeds": [ "Mitral valve leaflet calcification" ], "gold_answer": "Cardiac valve calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11874", "question": "What is associated with Lymphocytic infiltration of the parotid gland?", "seeds": [ "Lymphocytic infiltration of the parotid gland" ], "gold_answer": "Abnormal parotid gland morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11875", "question": "What is associated with Reduced bone mineral density?", "seeds": [ "Reduced bone mineral density" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11876", "question": "What is associated with Round radial epiphyses?", "seeds": [ "Round radial epiphyses" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11877", "question": "What is associated with Ear exostoses?", "seeds": [ "Ear exostoses" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11878", "question": "What is associated with Abnormal scalp morphology?", "seeds": [ "Abnormal scalp morphology" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11879", "question": "What is associated with Abnormal respiratory system physiology?", "seeds": [ "Abnormal respiratory system physiology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11880", "question": "What is associated with Hyperinsulinism due to UCP2 deficiency?", "seeds": [ "Hyperinsulinism due to UCP2 deficiency" ], "gold_answer": "Hypohidrosis or hyperhidrosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11881", "question": "What is associated with Charcot-Marie-Tooth disease, demyelinating, type 1G?", "seeds": [ "Charcot-Marie-Tooth disease, demyelinating, type 1G" ], "gold_answer": "Abnormality of peripheral nerve conduction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11882", "question": "What is associated with Central retinal exudate?", "seeds": [ "Central retinal exudate" ], "gold_answer": "Yellow/white retinal lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11883", "question": "What is associated with Abnormal capitate bone morphology?", "seeds": [ "Abnormal capitate bone morphology" ], "gold_answer": "Abnormal carpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11884", "question": "What is associated with X-linked Charcot-Marie-Tooth disease type 6?", "seeds": [ "X-linked Charcot-Marie-Tooth disease type 6" ], "gold_answer": "Abnormality of the musculature of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11885", "question": "What is associated with Abnormality of angular artery?", "seeds": [ "Abnormality of angular artery" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11886", "question": "What is associated with Abnormal circulating retinol-binding protein concentration?", "seeds": [ "Abnormal circulating retinol-binding protein concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11887", "question": "What is associated with Maturity-onset diabetes of the young, type 10?", "seeds": [ "Maturity-onset diabetes of the young, type 10" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11888", "question": "What is associated with Social anxiety?", "seeds": [ "Social anxiety" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11889", "question": "What is associated with Atypical nevi in non-sun exposed areas?", "seeds": [ "Atypical nevi in non-sun exposed areas" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11890", "question": "What phenotype is associated with Megaloblastic anemia 1?", "seeds": [ "Megaloblastic anemia 1" ], "gold_answer": "Paresthesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11891", "question": "What is associated with Decreased memory T cell proportion?", "seeds": [ "Decreased memory T cell proportion" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11892", "question": "What is associated with Abnormality of the wrist?", "seeds": [ "Abnormality of the wrist" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11893", "question": "What is associated with Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification?", "seeds": [ "Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" ], "gold_answer": "Cerebral calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11894", "question": "What is associated with Invasive pulmonary aspergillosis?", "seeds": [ "Invasive pulmonary aspergillosis" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11895", "question": "What is associated with Abnormal full-field electroretinogram?", "seeds": [ "Abnormal full-field electroretinogram" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11896", "question": "What is associated with Rib spur?", "seeds": [ "Rib spur" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11897", "question": "What is associated with Abnormal total natural killer cell count?", "seeds": [ "Abnormal total natural killer cell count" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11898", "question": "What is associated with Increased circulating N-acetylaspartic acid concentration?", "seeds": [ "Increased circulating N-acetylaspartic acid concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11899", "question": "What is associated with Neurodevelopmental disorder with language delay and variable cognitive abnormalities?", "seeds": [ "Neurodevelopmental disorder with language delay and variable cognitive abnormalities" ], "gold_answer": "Finger clinodactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11900", "question": "What is associated with Reduced beta/alpha synthesis ratio?", "seeds": [ "Reduced beta/alpha synthesis ratio" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11901", "question": "What is associated with Urticaria, aquagenic?", "seeds": [ "Urticaria, aquagenic" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11902", "question": "What is associated with Medial rotation of the medial malleolus?", "seeds": [ "Medial rotation of the medial malleolus" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11903", "question": "What phenotype is associated with Intellectual disability-hypotonic facies syndrome, X-linked?", "seeds": [ "Intellectual disability-hypotonic facies syndrome, X-linked" ], "gold_answer": "Tapered finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11904", "question": "What is associated with Clavicular pseudarthrosis?", "seeds": [ "Clavicular pseudarthrosis" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11905", "question": "What is associated with Early young adult onset?", "seeds": [ "Early young adult onset" ], "gold_answer": "Young adult onset", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11906", "question": "What is associated with Triphalangeal thumb?", "seeds": [ "Triphalangeal thumb" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11907", "question": "What is associated with Cutaneous syndactyly?", "seeds": [ "Cutaneous syndactyly" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11908", "question": "What is associated with Decreased circulating fetuin A concentration?", "seeds": [ "Decreased circulating fetuin A concentration" ], "gold_answer": "Abnormal circulating fetuin A concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11909", "question": "What is associated with Dysharmonic delayed bone age?", "seeds": [ "Dysharmonic delayed bone age" ], "gold_answer": "Abnormality of skeletal maturation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11910", "question": "What is associated with Generalized morning stiffness?", "seeds": [ "Generalized morning stiffness" ], "gold_answer": "Joint stiffness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11911", "question": "What is associated with Retinitis pigmentosa 51?", "seeds": [ "Retinitis pigmentosa 51" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11912", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 112?", "seeds": [ "Developmental and epileptic encephalopathy 112" ], "gold_answer": "Chiari type I malformation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11913", "question": "What is associated with Abnormal dental enamel morphology?", "seeds": [ "Abnormal dental enamel morphology" ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11914", "question": "What is associated with Lymph node abscess?", "seeds": [ "Lymph node abscess" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11915", "question": "What is associated with Reduced left ventricular ejection fraction?", "seeds": [ "Reduced left ventricular ejection fraction" ], "gold_answer": "Abnormal left ventricular ejection fraction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11916", "question": "What is associated with Brugada syndrome 1?", "seeds": [ "Brugada syndrome 1" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11917", "question": "What is associated with Retinal arteriolar tortuosity?", "seeds": [ "Retinal arteriolar tortuosity" ], "gold_answer": "Retinal vascular tortuosity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11918", "question": "What is associated with Lack of pupillary response to hydroxyamphetamine?", "seeds": [ "Lack of pupillary response to hydroxyamphetamine" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11919", "question": "What is associated with Large vessel vasculitis?", "seeds": [ "Large vessel vasculitis" ], "gold_answer": "Vasculitis by anatomical site", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11920", "question": "What is associated with Diabetic ketoacidosis?", "seeds": [ "Diabetic ketoacidosis" ], "gold_answer": "Diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11921", "question": "What is associated with 3-Methylglutaric aciduria?", "seeds": [ "3-Methylglutaric aciduria" ], "gold_answer": "Abnormal urine carboxylic acid level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11922", "question": "What is associated with Aplasia/Hypoplasia of the ovary?", "seeds": [ "Aplasia/Hypoplasia of the ovary" ], "gold_answer": "Abnormality of the ovary", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11923", "question": "What is associated with Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment?", "seeds": [ "Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment" ], "gold_answer": "IRF6", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_11924", "question": "What is associated with Ameliorated by ketogenic diet?", "seeds": [ "Ameliorated by ketogenic diet" ], "gold_answer": "Ameliorated by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11925", "question": "What is associated with Abnormal cardiac catheterization?", "seeds": [ "Abnormal cardiac catheterization" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11926", "question": "What is associated with Curvilinear pericallosal lipoma?", "seeds": [ "Curvilinear pericallosal lipoma" ], "gold_answer": "Midline central nervous system lipomas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11927", "question": "What is associated with Low femoral bone density?", "seeds": [ "Low femoral bone density" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11928", "question": "What phenotype is associated with 46,xx sex reversal 4?", "seeds": [ "46,xx sex reversal 4" ], "gold_answer": "Ovotestis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11929", "question": "What is associated with Unbalanced atrioventricular canal defect?", "seeds": [ "Unbalanced atrioventricular canal defect" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11930", "question": "What is associated with Proteinuria?", "seeds": [ "Proteinuria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11931", "question": "What is associated with Atrophic fundus lesion?", "seeds": [ "Atrophic fundus lesion" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11932", "question": "What is associated with Triangular shaped proximal phalanx of the 5th finger?", "seeds": [ "Triangular shaped proximal phalanx of the 5th finger" ], "gold_answer": "Triangular shaped phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11933", "question": "What phenotype is associated with Congenital myopathy 5 with cardiomyopathy?", "seeds": [ "Congenital myopathy 5 with cardiomyopathy" ], "gold_answer": "Increased endomysial connective tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11934", "question": "What is associated with Elevated circulating acetylcarnitine concentration?", "seeds": [ "Elevated circulating acetylcarnitine concentration" ], "gold_answer": "Abnormal circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11935", "question": "What is associated with Gastrostomy tube feeding in infancy?", "seeds": [ "Gastrostomy tube feeding in infancy" ], "gold_answer": "Tube feeding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11936", "question": "What is associated with Inappropriately low concentration of acetoacetate?", "seeds": [ "Inappropriately low concentration of acetoacetate" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11937", "question": "What is associated with Double first metacarpals?", "seeds": [ "Double first metacarpals" ], "gold_answer": "Supernumerary metacarpal bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11938", "question": "What is associated with Clumping of lymph node lymphocyte chromatin?", "seeds": [ "Clumping of lymph node lymphocyte chromatin" ], "gold_answer": "Abnormal lymph-node cellular finding", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11939", "question": "What is associated with Orange discolored tonsils?", "seeds": [ "Orange discolored tonsils" ], "gold_answer": "Abnormality of the tonsils", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11940", "question": "What is associated with Leber optic atrophy and dystonia?", "seeds": [ "Leber optic atrophy and dystonia" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11941", "question": "What is associated with Biconvex vertebral bodies?", "seeds": [ "Biconvex vertebral bodies" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11942", "question": "What is associated with Epilepsy, familial adult myoclonic, 7?", "seeds": [ "Epilepsy, familial adult myoclonic, 7" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11943", "question": "What is associated with Abnormal distribution of CD56 bright/dim natural killer cells?", "seeds": [ "Abnormal distribution of CD56 bright/dim natural killer cells" ], "gold_answer": "Abnormal natural killer subset distribution", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11944", "question": "What is associated with Abnormal waist to hip ratio?", "seeds": [ "Abnormal waist to hip ratio" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11945", "question": "What is associated with Mandibuloacral dysplasia with type B lipodystrophy?", "seeds": [ "Mandibuloacral dysplasia with type B lipodystrophy" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11946", "question": "What phenotype is associated with Neuropathy, hereditary sensory, type ID?", "seeds": [ "Neuropathy, hereditary sensory, type ID" ], "gold_answer": "Autoamputation of digits", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11947", "question": "What is associated with Elevated placental alkaline phosphatase?", "seeds": [ "Elevated placental alkaline phosphatase" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11948", "question": "What is associated with Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency?", "seeds": [ "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11949", "question": "What phenotype is associated with 2-methylbutyryl-CoA dehydrogenase deficiency?", "seeds": [ "2-methylbutyryl-CoA dehydrogenase deficiency" ], "gold_answer": "Elevated circulating C5 acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11950", "question": "What is associated with Lunate-triquetral fusion?", "seeds": [ "Lunate-triquetral fusion" ], "gold_answer": "Abnormal lunate bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11951", "question": "What is associated with Anotia?", "seeds": [ "Anotia" ], "gold_answer": "Aplasia/Hypoplasia of the external ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11952", "question": "What is associated with Gonadal hypoplasia?", "seeds": [ "Gonadal hypoplasia" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11953", "question": "What is associated with Keratoconus 9?", "seeds": [ "Keratoconus 9" ], "gold_answer": "Abnormality of the curvature of the cornea", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11954", "question": "What is associated with Lateral neck mass?", "seeds": [ "Lateral neck mass" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11955", "question": "What is associated with Ullrich congenital muscular dystrophy?", "seeds": [ "Ullrich congenital muscular dystrophy" ], "gold_answer": "Abnormal knee morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11956", "question": "What is associated with Testicular neoplasm?", "seeds": [ "Testicular neoplasm" ], "gold_answer": "Neoplasm of the genitourinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11957", "question": "What is associated with Pseudoepiphysis of the 2nd finger?", "seeds": [ "Pseudoepiphysis of the 2nd finger" ], "gold_answer": "Pseudoepiphyses of hand bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11958", "question": "What is associated with Triggered by menstruation?", "seeds": [ "Triggered by menstruation" ], "gold_answer": "Triggered by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11959", "question": "What is associated with Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome?", "seeds": [ "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the mandible", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11960", "question": "What is associated with Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia?", "seeds": [ "Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" ], "gold_answer": "Abnormal iliac wing morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11961", "question": "What is associated with Anoperineal fistula?", "seeds": [ "Anoperineal fistula" ], "gold_answer": "Abnormality of temperature regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11962", "question": "What is associated with Abnormal pattern of respiration?", "seeds": [ "Abnormal pattern of respiration" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11963", "question": "What is associated with Intellectual disability-balding-patella luxation-acromicria syndrome?", "seeds": [ "Intellectual disability-balding-patella luxation-acromicria syndrome" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11964", "question": "What is associated with Progressive neurologic deterioration?", "seeds": [ "Progressive neurologic deterioration" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11965", "question": "What is associated with Skin infectious agent?", "seeds": [ "Skin infectious agent" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11966", "question": "What is associated with Pelvic girdle muscle atrophy?", "seeds": [ "Pelvic girdle muscle atrophy" ], "gold_answer": "Abnormality of the hip-girdle musculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11967", "question": "What is associated with Charcot-Marie-Tooth disease type 1A?", "seeds": [ "Charcot-Marie-Tooth disease type 1A" ], "gold_answer": "Somatic sensory dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11968", "question": "What is associated with Yellow fever?", "seeds": [ "Yellow fever" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11969", "question": "What is associated with Paraspinal hemangioma?", "seeds": [ "Paraspinal hemangioma" ], "gold_answer": "Hemangioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11970", "question": "What is associated with Abnormal circulating long-chain fatty-acid concentration?", "seeds": [ "Abnormal circulating long-chain fatty-acid concentration" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11971", "question": "What is associated with Anomalous branches of internal carotid artery?", "seeds": [ "Anomalous branches of internal carotid artery" ], "gold_answer": "Abnormal carotid artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11972", "question": "What is associated with Hereditary cerebral amyloid angiopathy?", "seeds": [ "Hereditary cerebral amyloid angiopathy" ], "gold_answer": "Cognitive impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11973", "question": "What phenotype is associated with Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome?", "seeds": [ "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" ], "gold_answer": "Dilated cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11974", "question": "What is associated with Widened mediastinum?", "seeds": [ "Widened mediastinum" ], "gold_answer": "Abnormal mediastinum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11975", "question": "What is associated with Ocular albinism?", "seeds": [ "Ocular albinism" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11976", "question": "What is associated with Edema of the dorsum of feet?", "seeds": [ "Edema of the dorsum of feet" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11977", "question": "What is associated with Partial duplication of thumb phalanx?", "seeds": [ "Partial duplication of thumb phalanx" ], "gold_answer": "Duplication of hand bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11978", "question": "What is associated with Hurler-Scheie syndrome?", "seeds": [ "Hurler-Scheie syndrome" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11979", "question": "What is associated with Decreased fucosylation of N-linked protein glycosylation?", "seeds": [ "Decreased fucosylation of N-linked protein glycosylation" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11980", "question": "What is associated with DDX41-related hematologic malignancy predisposition syndrome?", "seeds": [ "DDX41-related hematologic malignancy predisposition syndrome" ], "gold_answer": "DDX41", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_11981", "question": "What phenotype is associated with Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome?", "seeds": [ "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome" ], "gold_answer": "Choanal stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11982", "question": "What is associated with Wrist arthritis?", "seeds": [ "Wrist arthritis" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11983", "question": "What is associated with Focal orofacial automatism seizure?", "seeds": [ "Focal orofacial automatism seizure" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11984", "question": "What is associated with Positive urine methadone test?", "seeds": [ "Positive urine methadone test" ], "gold_answer": "Presence of xenobiotic", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11985", "question": "What is associated with Filamentary keratitis?", "seeds": [ "Filamentary keratitis" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11986", "question": "What is associated with Cardiomyopathy, dilated, with woolly hair and keratoderma?", "seeds": [ "Cardiomyopathy, dilated, with woolly hair and keratoderma" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11987", "question": "What is associated with Mesomelia-Synostoses syndrome?", "seeds": [ "Mesomelia-Synostoses syndrome" ], "gold_answer": "Dilatation of the renal pelvis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11988", "question": "What is associated with Short proximal phalanx of the 4th finger?", "seeds": [ "Short proximal phalanx of the 4th finger" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11989", "question": "What is associated with Congenital nephrotic syndrome?", "seeds": [ "Congenital nephrotic syndrome" ], "gold_answer": "Nephrotic syndrome", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11990", "question": "What is associated with Anal margin squamous cell carcinoma?", "seeds": [ "Anal margin squamous cell carcinoma" ], "gold_answer": "Anal margin neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11991", "question": "What is associated with Medial calcification of medium-sized arteries?", "seeds": [ "Medial calcification of medium-sized arteries" ], "gold_answer": "Arterial calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11992", "question": "What is associated with Vocal cord polyp?", "seeds": [ "Vocal cord polyp" ], "gold_answer": "Abnormality of the larynx", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11993", "question": "What is associated with Silhouette sign?", "seeds": [ "Silhouette sign" ], "gold_answer": "Pulmonary imaging sign", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_11994", "question": "What is associated with Cutaneous abscess?", "seeds": [ "Cutaneous abscess" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_11995", "question": "What phenotype is associated with SHOX-related short stature?", "seeds": [ "SHOX-related short stature" ], "gold_answer": "Ulnar radial head dislocation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_11996", "question": "What is associated with Thyroid hormone metabolism, abnormal, 3?", "seeds": [ "Thyroid hormone metabolism, abnormal, 3" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11997", "question": "What is associated with Shortened QT interval?", "seeds": [ "Shortened QT interval" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11998", "question": "What is associated with Diminishment of emotional expression?", "seeds": [ "Diminishment of emotional expression" ], "gold_answer": "Abnormal social behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_11999", "question": "What is associated with Hypoplasia of the abdominal wall musculature?", "seeds": [ "Hypoplasia of the abdominal wall musculature" ], "gold_answer": "Abnormal morphology of the abdominal musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12000", "question": "What is associated with Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome?", "seeds": [ "Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12001", "question": "What is associated with Myotonic dystrophy 1?", "seeds": [ "Myotonic dystrophy 1" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12002", "question": "What phenotype is associated with Parkinsonism-dystonia, infantile, 2?", "seeds": [ "Parkinsonism-dystonia, infantile, 2" ], "gold_answer": "Delayed ability to walk", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12003", "question": "What phenotype is associated with Waardenburg syndrome, type 3?", "seeds": [ "Waardenburg syndrome, type 3" ], "gold_answer": "White eyelashes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12004", "question": "What is associated with Bullous diffuse cutaneous mastocytosis?", "seeds": [ "Bullous diffuse cutaneous mastocytosis" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12005", "question": "What is associated with Lozenge-shaped umbilicus?", "seeds": [ "Lozenge-shaped umbilicus" ], "gold_answer": "Abnormal umbilicus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12006", "question": "What is associated with Total intestinal aganglionosis?", "seeds": [ "Total intestinal aganglionosis" ], "gold_answer": "Abnormal enteric nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12007", "question": "What is associated with Myoglobinuria?", "seeds": [ "Myoglobinuria" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12008", "question": "What is associated with Intraluminal meconium calcification?", "seeds": [ "Intraluminal meconium calcification" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12009", "question": "What is associated with Deafness, autosomal dominant 40?", "seeds": [ "Deafness, autosomal dominant 40" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12010", "question": "What phenotype is associated with Spondylocostal dysostosis 5?", "seeds": [ "Spondylocostal dysostosis 5" ], "gold_answer": "Missing ribs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12011", "question": "What is associated with Cone-shaped epiphyses of the 3rd toe?", "seeds": [ "Cone-shaped epiphyses of the 3rd toe" ], "gold_answer": "Abnormality of the epiphyses of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12012", "question": "What is associated with Pancreatic cysts?", "seeds": [ "Pancreatic cysts" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12013", "question": "What is associated with Pharyngalgia?", "seeds": [ "Pharyngalgia" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12014", "question": "What is associated with Sialuria?", "seeds": [ "Sialuria" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12015", "question": "What is associated with Abnormal hypoxanthine-guanine phosphoribosyltransferase level?", "seeds": [ "Abnormal hypoxanthine-guanine phosphoribosyltransferase level" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12016", "question": "What is associated with Anomalous branches of internal carotid artery?", "seeds": [ "Anomalous branches of internal carotid artery" ], "gold_answer": "Abnormal carotid artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12017", "question": "What is associated with ADAR-related hereditary spastic paraplegia?", "seeds": [ "ADAR-related hereditary spastic paraplegia" ], "gold_answer": "ADAR", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_12018", "question": "What is associated with Yellow nail syndrome?", "seeds": [ "Yellow nail syndrome" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12019", "question": "What is associated with Multiple unerupted teeth?", "seeds": [ "Multiple unerupted teeth" ], "gold_answer": "Abnormality of dental eruption", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12020", "question": "What is associated with Pontocerebellar hypoplasia type 1?", "seeds": [ "Pontocerebellar hypoplasia type 1" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12021", "question": "What is associated with Glomerular amyloid subepithelial deposits?", "seeds": [ "Glomerular amyloid subepithelial deposits" ], "gold_answer": "Fibrillar glomerular subepithelial deposits", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12022", "question": "What is associated with Aplasia/Hypoplasia involving the vertebral column?", "seeds": [ "Aplasia/Hypoplasia involving the vertebral column" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12023", "question": "What phenotype is associated with Ring chromosome 13 syndrome?", "seeds": [ "Ring chromosome 13 syndrome" ], "gold_answer": "Subretinal pigment epithelium hemorrhage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12024", "question": "What phenotype is associated with Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities?", "seeds": [ "Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities" ], "gold_answer": "Abnormal CNS myelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12025", "question": "What is associated with Spermatogenic failure, X-linked 2?", "seeds": [ "Spermatogenic failure, X-linked 2" ], "gold_answer": "Functional abnormality of male internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12026", "question": "What is associated with Epidermal acanthosis?", "seeds": [ "Epidermal acanthosis" ], "gold_answer": "Abnormal epidermal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12027", "question": "What is associated with Thoracic ectopia cordis?", "seeds": [ "Thoracic ectopia cordis" ], "gold_answer": "Abnormal anatomic location of the heart", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12028", "question": "What is associated with Right aortic arch with retroesophageal diverticulum of Kommerell?", "seeds": [ "Right aortic arch with retroesophageal diverticulum of Kommerell" ], "gold_answer": "Abnormal aortic arch morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12029", "question": "What is associated with Abnormal capillary physiology?", "seeds": [ "Abnormal capillary physiology" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12030", "question": "What is associated with Asymmetry of the size of ears?", "seeds": [ "Asymmetry of the size of ears" ], "gold_answer": "Asymmetry of the ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12031", "question": "What phenotype is associated with Cholestasis, progressive familial intrahepatic, 3?", "seeds": [ "Cholestasis, progressive familial intrahepatic, 3" ], "gold_answer": "Malabsorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12032", "question": "What is associated with Macular dystrophy, concentric annular?", "seeds": [ "Macular dystrophy, concentric annular" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12033", "question": "What is associated with Perineal hemangioma?", "seeds": [ "Perineal hemangioma" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12034", "question": "What is associated with Nephrolithiasis?", "seeds": [ "Nephrolithiasis" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12035", "question": "What is associated with Adductor longus contractures?", "seeds": [ "Adductor longus contractures" ], "gold_answer": "Lower-limb joint contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12036", "question": "What is associated with Abnormal erythrocyte metabolite concentration?", "seeds": [ "Abnormal erythrocyte metabolite concentration" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12037", "question": "What is associated with Mesomelic dwarfism, Reinhardt-Pfeiffer type?", "seeds": [ "Mesomelic dwarfism, Reinhardt-Pfeiffer type" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12038", "question": "What is associated with Abnormal head movements?", "seeds": [ "Abnormal head movements" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12039", "question": "What is associated with Tetany?", "seeds": [ "Tetany" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12040", "question": "What phenotype is associated with Achalasia-microcephaly syndrome?", "seeds": [ "Achalasia-microcephaly syndrome" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12041", "question": "What is associated with Myopia 2, autosomal dominant?", "seeds": [ "Myopia 2, autosomal dominant" ], "gold_answer": "Myopia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12042", "question": "What is associated with Recurrent pyelonephritis?", "seeds": [ "Recurrent pyelonephritis" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12043", "question": "What is associated with Atrial reentry tachycardia?", "seeds": [ "Atrial reentry tachycardia" ], "gold_answer": "Atrial arrhythmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12044", "question": "What is associated with Peripheral arterial calcification?", "seeds": [ "Peripheral arterial calcification" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12045", "question": "What is associated with Inferior oblique muscle weakness?", "seeds": [ "Inferior oblique muscle weakness" ], "gold_answer": "Abnormal inferior oblique muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12046", "question": "What is associated with Mesangial proliferative lupus nephritis?", "seeds": [ "Mesangial proliferative lupus nephritis" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12047", "question": "What is associated with Ribose 5-phosphate isomerase deficiency?", "seeds": [ "Ribose 5-phosphate isomerase deficiency" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12048", "question": "What is associated with Recurrent meningitis?", "seeds": [ "Recurrent meningitis" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12049", "question": "What is associated with Premature epimetaphyseal fusion in radius?", "seeds": [ "Premature epimetaphyseal fusion in radius" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12050", "question": "What phenotype is associated with Opitz-Kaveggia syndrome?", "seeds": [ "Opitz-Kaveggia syndrome" ], "gold_answer": "Split hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12051", "question": "What is associated with Generalized non-motor (absence) seizure?", "seeds": [ "Generalized non-motor (absence) seizure" ], "gold_answer": "Non-motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12052", "question": "What is associated with Lymph-node follicular sclerosis?", "seeds": [ "Lymph-node follicular sclerosis" ], "gold_answer": "Abnormal lymph-node follicle architecture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12053", "question": "What is associated with Direct antiglobulin test positive for C3d?", "seeds": [ "Direct antiglobulin test positive for C3d" ], "gold_answer": "Positive Coombs test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12054", "question": "What is associated with Hypogonadotropic hypogonadism 4 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 4 with or without anosmia" ], "gold_answer": "Abnormality of the menstrual cycle", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12055", "question": "What is associated with Glabellar hemangioma?", "seeds": [ "Glabellar hemangioma" ], "gold_answer": "Vascular neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12056", "question": "What is associated with Impaired renal tubular reabsorption of low molecular weight protein?", "seeds": [ "Impaired renal tubular reabsorption of low molecular weight protein" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12057", "question": "What is associated with Purely bicuspid aortic valve?", "seeds": [ "Purely bicuspid aortic valve" ], "gold_answer": "Abnormal aortic valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12058", "question": "What is associated with Focal impaired awareness seizure with dissociation at onset?", "seeds": [ "Focal impaired awareness seizure with dissociation at onset" ], "gold_answer": "Focal impaired awareness cognitive seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12059", "question": "What is associated with Abnormality of the epiphysis of the proximal phalanx of the 5th finger?", "seeds": [ "Abnormality of the epiphysis of the proximal phalanx of the 5th finger" ], "gold_answer": "Abnormal 5th finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12060", "question": "What phenotype is associated with Developmental delay with or without dysmorphic facies and autism?", "seeds": [ "Developmental delay with or without dysmorphic facies and autism" ], "gold_answer": "Delayed ability to walk", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12061", "question": "What is associated with Dopa-responsive dystonia due to sepiapterin reductase deficiency?", "seeds": [ "Dopa-responsive dystonia due to sepiapterin reductase deficiency" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12062", "question": "What phenotype is associated with Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia?", "seeds": [ "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia" ], "gold_answer": "Motor axonal neuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12063", "question": "What is associated with Severe viral infection?", "seeds": [ "Severe viral infection" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12064", "question": "What is associated with Albinism, oculocutaneous, type V?", "seeds": [ "Albinism, oculocutaneous, type V" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12065", "question": "What is associated with Impaired vibratory sensation?", "seeds": [ "Impaired vibratory sensation" ], "gold_answer": "Somatic sensory dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12066", "question": "What is associated with Exercise-induced rhabdomyolysis?", "seeds": [ "Exercise-induced rhabdomyolysis" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12067", "question": "What is associated with Skeletal dysplasia?", "seeds": [ "Skeletal dysplasia" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12068", "question": "What is associated with Ciliary discoordination due to random ciliary orientation?", "seeds": [ "Ciliary discoordination due to random ciliary orientation" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12069", "question": "What is associated with Abnormal class-switched memory B cell proportion?", "seeds": [ "Abnormal class-switched memory B cell proportion" ], "gold_answer": "Abnormal B cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12070", "question": "What is associated with Anomalous origin of the left common carotid artery from the main pulmonary artery?", "seeds": [ "Anomalous origin of the left common carotid artery from the main pulmonary artery" ], "gold_answer": "Abnormal carotid artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12071", "question": "What is associated with Postauricular skin tag?", "seeds": [ "Postauricular skin tag" ], "gold_answer": "Abnormal cheek morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12072", "question": "What is associated with Anti-AMPAR antibody positivity?", "seeds": [ "Anti-AMPAR antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12073", "question": "What is associated with Idiopathic steroid-resistant nephrotic syndrome?", "seeds": [ "Idiopathic steroid-resistant nephrotic syndrome" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12074", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 73?", "seeds": [ "Developmental and epileptic encephalopathy 73" ], "gold_answer": "Inguinal hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12075", "question": "What is associated with Increased urine urobilinogen?", "seeds": [ "Increased urine urobilinogen" ], "gold_answer": "Abnormal urine urobilinogen level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12076", "question": "What is associated with Abnormal arachnoid mater morphology?", "seeds": [ "Abnormal arachnoid mater morphology" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12077", "question": "What is associated with Abnormal urine metabolite level?", "seeds": [ "Abnormal urine metabolite level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12078", "question": "What phenotype is associated with Antiphospholipid syndrome, familial?", "seeds": [ "Antiphospholipid syndrome, familial" ], "gold_answer": "Visual loss", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12079", "question": "What is associated with X-linked intellectual disability, Schimke type?", "seeds": [ "X-linked intellectual disability, Schimke type" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12080", "question": "What phenotype is associated with Thyroid hormone plasma membrane transport defect?", "seeds": [ "Thyroid hormone plasma membrane transport defect" ], "gold_answer": "Goiter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12081", "question": "What phenotype is associated with TMEM70-related mitochondrial encephalo-cardio-myopathy?", "seeds": [ "TMEM70-related mitochondrial encephalo-cardio-myopathy" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12082", "question": "What is associated with Spinal canal stenosis?", "seeds": [ "Spinal canal stenosis" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12083", "question": "What is associated with Horizontal opticokinetic nystagmus?", "seeds": [ "Horizontal opticokinetic nystagmus" ], "gold_answer": "Horizontal nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12084", "question": "What is associated with Abnormal vaginal discharge?", "seeds": [ "Abnormal vaginal discharge" ], "gold_answer": "Abnormal female reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12085", "question": "What is associated with Altman type III sacrococcygeal teratoma?", "seeds": [ "Altman type III sacrococcygeal teratoma" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12086", "question": "What phenotype is associated with Bile acid synthesis defect, congenital, 3?", "seeds": [ "Bile acid synthesis defect, congenital, 3" ], "gold_answer": "Jaundice", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12087", "question": "What is associated with Increased circulating copper concentration?", "seeds": [ "Increased circulating copper concentration" ], "gold_answer": "Abnormal blood cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12088", "question": "What is associated with Verrucous hemangioma?", "seeds": [ "Verrucous hemangioma" ], "gold_answer": "Hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12089", "question": "What phenotype is associated with Hyperhidrosis palmaris et plantaris?", "seeds": [ "Hyperhidrosis palmaris et plantaris" ], "gold_answer": "Palmoplantar hyperhidrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12090", "question": "What is associated with Transverse fracture?", "seeds": [ "Transverse fracture" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12091", "question": "What is associated with Peroxisome biogenesis disorder 10A (Zellweger)?", "seeds": [ "Peroxisome biogenesis disorder 10A (Zellweger)" ], "gold_answer": "Slanting of the palpebral fissure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12092", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 114?", "seeds": [ "Developmental and epileptic encephalopathy 114" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12093", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 28?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 28" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12094", "question": "What is associated with Tibia, hypoplasia or aplasia of, with polydactyly?", "seeds": [ "Tibia, hypoplasia or aplasia of, with polydactyly" ], "gold_answer": "Polydactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12095", "question": "What is associated with Juvenile rheumatoid arthritis?", "seeds": [ "Juvenile rheumatoid arthritis" ], "gold_answer": "Rheumatoid arthritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12096", "question": "What is associated with SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC?", "seeds": [ "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC" ], "gold_answer": "Skeletal dysplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12097", "question": "What is associated with Developmental and epileptic encephalopathy 44?", "seeds": [ "Developmental and epileptic encephalopathy 44" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12098", "question": "What is associated with Van Maldergem syndrome 1?", "seeds": [ "Van Maldergem syndrome 1" ], "gold_answer": "Abnormality of upper lip vermillion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12099", "question": "What is associated with Abdominal guarding?", "seeds": [ "Abdominal guarding" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12100", "question": "What is associated with Coarse facial features?", "seeds": [ "Coarse facial features" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12101", "question": "What is associated with Pretibial dimple?", "seeds": [ "Pretibial dimple" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12102", "question": "What is associated with Regional abnormality of skin?", "seeds": [ "Regional abnormality of skin" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12103", "question": "What is associated with Severe receptive language delay?", "seeds": [ "Severe receptive language delay" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12104", "question": "What is associated with Accumulation of melanosomes in melanocytes?", "seeds": [ "Accumulation of melanosomes in melanocytes" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12105", "question": "What is associated with Nasal secretion neutrophilia?", "seeds": [ "Nasal secretion neutrophilia" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12106", "question": "What is associated with Amplification of comfort with casual physical contact?", "seeds": [ "Amplification of comfort with casual physical contact" ], "gold_answer": "Abnormal social behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12107", "question": "What phenotype is associated with Geleophysic dysplasia 1?", "seeds": [ "Geleophysic dysplasia 1" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12108", "question": "What is associated with Retinal gliosis?", "seeds": [ "Retinal gliosis" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12109", "question": "What is associated with Abnormality of uvular muscle?", "seeds": [ "Abnormality of uvular muscle" ], "gold_answer": "Abnormality of musculature of soft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12110", "question": "What is associated with Short pointed phalanges?", "seeds": [ "Short pointed phalanges" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12111", "question": "What is associated with Hypoplasia of the premaxilla?", "seeds": [ "Hypoplasia of the premaxilla" ], "gold_answer": "Abnormal maxilla morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12112", "question": "What phenotype is associated with Ulna metaphyseal dysplasia syndrome?", "seeds": [ "Ulna metaphyseal dysplasia syndrome" ], "gold_answer": "Hypercalcemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12113", "question": "What is associated with Prolonged miniature endplate currents?", "seeds": [ "Prolonged miniature endplate currents" ], "gold_answer": "Abnormal peripheral nervous system synaptic transmission", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12114", "question": "What is associated with Abnormal aortic valve physiology?", "seeds": [ "Abnormal aortic valve physiology" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12115", "question": "What is associated with Abnormal left ventricular function?", "seeds": [ "Abnormal left ventricular function" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12116", "question": "What is associated with Cotton wool plaques?", "seeds": [ "Cotton wool plaques" ], "gold_answer": "Atrophy/Degeneration affecting the central nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12117", "question": "What phenotype is associated with Neurodevelopmental disorder plus optic atrophy?", "seeds": [ "Neurodevelopmental disorder plus optic atrophy" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12118", "question": "What is associated with Elevated brain glycine level by MRS?", "seeds": [ "Elevated brain glycine level by MRS" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12119", "question": "What is associated with Peptic ulcer?", "seeds": [ "Peptic ulcer" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12120", "question": "What is associated with Fractured hamate bone?", "seeds": [ "Fractured hamate bone" ], "gold_answer": "Fractured hand bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12121", "question": "What is associated with Coronary ostial atresia?", "seeds": [ "Coronary ostial atresia" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12122", "question": "What is associated with Abnormal response to glucagon stimulation test?", "seeds": [ "Abnormal response to glucagon stimulation test" ], "gold_answer": "Abnormal response to endocrine stimulation test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12123", "question": "What phenotype is associated with Brain malformation-congenital heart disease-postaxial polydactyly syndrome?", "seeds": [ "Brain malformation-congenital heart disease-postaxial polydactyly syndrome" ], "gold_answer": "Alopecia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12124", "question": "What is associated with von Hippel-Lindau syndrome?", "seeds": [ "von Hippel-Lindau syndrome" ], "gold_answer": "Vascular neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12125", "question": "What is associated with Enteric neuronal degeneration?", "seeds": [ "Enteric neuronal degeneration" ], "gold_answer": "Abnormal enteric nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12126", "question": "What is associated with Chorioretinal atrophy?", "seeds": [ "Chorioretinal atrophy" ], "gold_answer": "Abnormal choroid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12127", "question": "What is associated with Abnormal optic nerve morphology?", "seeds": [ "Abnormal optic nerve morphology" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12128", "question": "What is associated with Abnormal neck blood vessel morphology?", "seeds": [ "Abnormal neck blood vessel morphology" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12129", "question": "What is associated with Commissural lip pit?", "seeds": [ "Commissural lip pit" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12130", "question": "What is associated with Hiatt-Neu-Cooper neurodevelopmental syndrome?", "seeds": [ "Hiatt-Neu-Cooper neurodevelopmental syndrome" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12131", "question": "What is associated with Abnormal fetal nasal bone visualization?", "seeds": [ "Abnormal fetal nasal bone visualization" ], "gold_answer": "Abnormal fetal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12132", "question": "What is associated with Cerebellar, ocular, craniofacial, and genital syndrome?", "seeds": [ "Cerebellar, ocular, craniofacial, and genital syndrome" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12133", "question": "What is associated with Recurrent viral infections?", "seeds": [ "Recurrent viral infections" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12134", "question": "What is associated with Urofacial syndrome?", "seeds": [ "Urofacial syndrome" ], "gold_answer": "Increased blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12135", "question": "What is associated with Marker expression?", "seeds": [ "Marker expression" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12136", "question": "What is associated with Ureteral obstruction?", "seeds": [ "Ureteral obstruction" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12137", "question": "What is associated with Cone-shaped epiphysis of the middle phalanx of the 4th toe?", "seeds": [ "Cone-shaped epiphysis of the middle phalanx of the 4th toe" ], "gold_answer": "Abnormality of the epiphysis of the middle phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12138", "question": "What is associated with Bartholin cyst?", "seeds": [ "Bartholin cyst" ], "gold_answer": "Abnormal female external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12139", "question": "What is associated with Choreoathetosis, hypothyroidism, and neonatal respiratory distress?", "seeds": [ "Choreoathetosis, hypothyroidism, and neonatal respiratory distress" ], "gold_answer": "Abnormal response to endocrine stimulation test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12140", "question": "What is associated with Spermatogenic failure 83?", "seeds": [ "Spermatogenic failure 83" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12141", "question": "What is associated with Narrow maxilla?", "seeds": [ "Narrow maxilla" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12142", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 2?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 2" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12143", "question": "What is associated with Bladder cancer?", "seeds": [ "Bladder cancer" ], "gold_answer": "Neoplasm of the genitourinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12144", "question": "What is associated with Abnormal unaided visual acuity test?", "seeds": [ "Abnormal unaided visual acuity test" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12145", "question": "What is associated with Reduced epidermal extracellular matrix protein 1 protein expression?", "seeds": [ "Reduced epidermal extracellular matrix protein 1 protein expression" ], "gold_answer": "Abnormal epidermal protein expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12146", "question": "What is associated with Reduced circulating urocanic acid concentration?", "seeds": [ "Reduced circulating urocanic acid concentration" ], "gold_answer": "Abnormal circulating monocarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12147", "question": "What is associated with Exacerbated by tobacco use?", "seeds": [ "Exacerbated by tobacco use" ], "gold_answer": "Aggravated by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12148", "question": "What is associated with Abnormality of the respiratory system?", "seeds": [ "Abnormality of the respiratory system" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12149", "question": "What is associated with Spondylolysis?", "seeds": [ "Spondylolysis" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12150", "question": "What is associated with Achilles tendon tear?", "seeds": [ "Achilles tendon tear" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12151", "question": "What phenotype is associated with Myoclonus-cerebellar ataxia-deafness syndrome?", "seeds": [ "Myoclonus-cerebellar ataxia-deafness syndrome" ], "gold_answer": "Generalized amyotrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12152", "question": "What is associated with Abnormal epididymis morphology?", "seeds": [ "Abnormal epididymis morphology" ], "gold_answer": "Abnormal male internal genitalia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12153", "question": "What is associated with Proptosis?", "seeds": [ "Proptosis" ], "gold_answer": "Abnormality of globe location", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12154", "question": "What is associated with Irregular epiphyses of the 2nd toe?", "seeds": [ "Irregular epiphyses of the 2nd toe" ], "gold_answer": "Irregular epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12155", "question": "What is associated with Babesiosis?", "seeds": [ "Babesiosis" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12156", "question": "What is associated with Autoinflammatory disease, systemic, with vasculitis?", "seeds": [ "Autoinflammatory disease, systemic, with vasculitis" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12157", "question": "What is associated with Enlarged interhemispheric fissure?", "seeds": [ "Enlarged interhemispheric fissure" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12158", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 30?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 30" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12159", "question": "What is associated with Philtrum with midline raphe?", "seeds": [ "Philtrum with midline raphe" ], "gold_answer": "Abnormality of the philtrum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12160", "question": "What is associated with Abnormal circulating insulin concentration?", "seeds": [ "Abnormal circulating insulin concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12161", "question": "What is associated with Acromesomelic dysplasia, Grebe type?", "seeds": [ "Acromesomelic dysplasia, Grebe type" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12162", "question": "What is associated with Semantic dementia?", "seeds": [ "Semantic dementia" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12163", "question": "What is associated with Absent epiphyses of the thumb?", "seeds": [ "Absent epiphyses of the thumb" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12164", "question": "What is associated with Exacerbated by phenytoin exposure?", "seeds": [ "Exacerbated by phenytoin exposure" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12165", "question": "What is associated with Ganglioside accumulation?", "seeds": [ "Ganglioside accumulation" ], "gold_answer": "Abnormal glycosphingolipid metabolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12166", "question": "What is associated with Postorgasmic illness syndrome?", "seeds": [ "Postorgasmic illness syndrome" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12167", "question": "What phenotype is associated with Generalized epilepsy with febrile seizures plus, type 10?", "seeds": [ "Generalized epilepsy with febrile seizures plus, type 10" ], "gold_answer": "Autistic behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12168", "question": "What is associated with Papilloma?", "seeds": [ "Papilloma" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12169", "question": "What is associated with Kerion?", "seeds": [ "Kerion" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12170", "question": "What is associated with Decreased circulating complement C5 concentration?", "seeds": [ "Decreased circulating complement C5 concentration" ], "gold_answer": "Abnormality of complement system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12171", "question": "What is associated with Vitreous floaters?", "seeds": [ "Vitreous floaters" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12172", "question": "What phenotype is associated with Cornea guttata with anterior polar cataracts?", "seeds": [ "Cornea guttata with anterior polar cataracts" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12173", "question": "What is associated with Elbow localization?", "seeds": [ "Elbow localization" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12174", "question": "What is associated with Spinocerebellar ataxia 17?", "seeds": [ "Spinocerebellar ataxia 17" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12175", "question": "What is associated with Fibrocellular crescent?", "seeds": [ "Fibrocellular crescent" ], "gold_answer": "Abnormal Bowman space morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12176", "question": "What is associated with Toe, misshapen?", "seeds": [ "Toe, misshapen" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12177", "question": "What is associated with Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies?", "seeds": [ "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" ], "gold_answer": "Abnormal ureter physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12178", "question": "What is associated with Nanophthalmos 4?", "seeds": [ "Nanophthalmos 4" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12179", "question": "What phenotype is associated with INCISORS, LONG UPPER CENTRAL?", "seeds": [ "INCISORS, LONG UPPER CENTRAL" ], "gold_answer": "Macrodontia of permanent maxillary central incisor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12180", "question": "What is associated with Elevated urinary deoxyuridine level?", "seeds": [ "Elevated urinary deoxyuridine level" ], "gold_answer": "Abnormal urinary pyrimidine level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12181", "question": "What is associated with Halo vision?", "seeds": [ "Halo vision" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12182", "question": "What is associated with Lipodystrophy, familial partial, type 1?", "seeds": [ "Lipodystrophy, familial partial, type 1" ], "gold_answer": "Insulin resistance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12183", "question": "What phenotype is associated with Blomstrand lethal chondrodysplasia?", "seeds": [ "Blomstrand lethal chondrodysplasia" ], "gold_answer": "Short nose", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12184", "question": "What is associated with Sclerosis of the middle phalanx of the 3rd finger?", "seeds": [ "Sclerosis of the middle phalanx of the 3rd finger" ], "gold_answer": "Abnormal 3rd finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12185", "question": "What is associated with DERMATOGLYPHICS--FINGERPRINT PATTERN?", "seeds": [ "DERMATOGLYPHICS--FINGERPRINT PATTERN" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12186", "question": "What is associated with Fractured proximal phalanx of digit 2?", "seeds": [ "Fractured proximal phalanx of digit 2" ], "gold_answer": "Long-bone fracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12187", "question": "What is associated with Abnormal morphology of the pelvis musculature?", "seeds": [ "Abnormal morphology of the pelvis musculature" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12188", "question": "What is associated with Multiple symmetric lipomatosis?", "seeds": [ "Multiple symmetric lipomatosis" ], "gold_answer": "Visceromegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12189", "question": "What is associated with Reduced radioactive iodine uptake?", "seeds": [ "Reduced radioactive iodine uptake" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12190", "question": "What is associated with Tortuous cerebral arteries?", "seeds": [ "Tortuous cerebral arteries" ], "gold_answer": "Arterial tortuosity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12191", "question": "What is associated with Gangliocytoma?", "seeds": [ "Gangliocytoma" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12192", "question": "What is associated with Pulsatile mass in extremity?", "seeds": [ "Pulsatile mass in extremity" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12193", "question": "What is associated with Anti-GT1a antibody positivity?", "seeds": [ "Anti-GT1a antibody positivity" ], "gold_answer": "Anti-ganglioside antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12194", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" ], "gold_answer": "Abnormal posterior cranial fossa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12195", "question": "What is associated with Abnormal circulating threonine concentration?", "seeds": [ "Abnormal circulating threonine concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12196", "question": "What is associated with Paroxysmal non-kinesigenic dyskinesia?", "seeds": [ "Paroxysmal non-kinesigenic dyskinesia" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12197", "question": "What is associated with Ureteral polyp?", "seeds": [ "Ureteral polyp" ], "gold_answer": "Neoplasm of the ureter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12198", "question": "What is associated with Decreased galactosylation of N-linked protein glycosylation?", "seeds": [ "Decreased galactosylation of N-linked protein glycosylation" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12199", "question": "What is associated with Triangular shaped phalanges of the 4th toe?", "seeds": [ "Triangular shaped phalanges of the 4th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12200", "question": "What is associated with Cone-shaped epiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Cone-shaped epiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Abnormality of the epiphysis of the middle phalanx of the 4th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12201", "question": "What is associated with Abnormality of the epiphysis of the proximal phalanx of the 4th toe?", "seeds": [ "Abnormality of the epiphysis of the proximal phalanx of the 4th toe" ], "gold_answer": "Abnormality of the epiphyses of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12202", "question": "What is associated with Enteric intraneuronal nuclear inclusion bodies?", "seeds": [ "Enteric intraneuronal nuclear inclusion bodies" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12203", "question": "What is associated with Normocytic hypoplastic anemia?", "seeds": [ "Normocytic hypoplastic anemia" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12204", "question": "What is associated with Renal arteriole intima/media crystal accumulation?", "seeds": [ "Renal arteriole intima/media crystal accumulation" ], "gold_answer": "Abnormal renal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12205", "question": "What is associated with Thyrocerebrorenal syndrome?", "seeds": [ "Thyrocerebrorenal syndrome" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12206", "question": "What is associated with Abnormal circulating interleukin 23 concentration?", "seeds": [ "Abnormal circulating interleukin 23 concentration" ], "gold_answer": "Abnormal circulating interleukin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12207", "question": "What is associated with Increased circulating iron concentration?", "seeds": [ "Increased circulating iron concentration" ], "gold_answer": "Abnormality of iron homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12208", "question": "What is associated with Warburg micro syndrome 1?", "seeds": [ "Warburg micro syndrome 1" ], "gold_answer": "Aplasia/Hypoplasia of the cerebellar vermis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12209", "question": "What is associated with Migraine with or without aura, susceptibility to, 6?", "seeds": [ "Migraine with or without aura, susceptibility to, 6" ], "gold_answer": "Weakness due to upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12210", "question": "What is associated with Intellectual disability-short stature-hypertelorism syndrome?", "seeds": [ "Intellectual disability-short stature-hypertelorism syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12211", "question": "What is associated with Shawl sign?", "seeds": [ "Shawl sign" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12212", "question": "What is associated with Elevated circulating trihydroxycholestanoic acid concentration?", "seeds": [ "Elevated circulating trihydroxycholestanoic acid concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12213", "question": "What is associated with Axial muscle stiffness?", "seeds": [ "Axial muscle stiffness" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12214", "question": "What is associated with Sporadic Creutzfeldt-Jakob disease?", "seeds": [ "Sporadic Creutzfeldt-Jakob disease" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12215", "question": "What phenotype is associated with Mohr syndrome?", "seeds": [ "Mohr syndrome" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12216", "question": "What phenotype is associated with Succinyl CoA:3-oxoacid CoA transferase deficiency?", "seeds": [ "Succinyl CoA:3-oxoacid CoA transferase deficiency" ], "gold_answer": "Episodic ketoacidosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12217", "question": "What is associated with Abnormality of primary teeth?", "seeds": [ "Abnormality of primary teeth" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12218", "question": "What phenotype is associated with Late-infantile/juvenile Krabbe disease?", "seeds": [ "Late-infantile/juvenile Krabbe disease" ], "gold_answer": "EEG with persistent abnormal rhythmic activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12219", "question": "What is associated with EMG: incremental response of compound muscle action potential to repetitive nerve stimulation?", "seeds": [ "EMG: incremental response of compound muscle action potential to repetitive nerve stimulation" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12220", "question": "What is associated with Increased glucose-6-phosphate dehydrogenase level in tissue?", "seeds": [ "Increased glucose-6-phosphate dehydrogenase level in tissue" ], "gold_answer": "Abnormal circulating glucose-6-phosphate dehydrogenase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12221", "question": "What is associated with Superior transverse scapular ligament, calcification of, familial?", "seeds": [ "Superior transverse scapular ligament, calcification of, familial" ], "gold_answer": "Ectopic ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12222", "question": "What is associated with Coarse metaphyseal trabecularization?", "seeds": [ "Coarse metaphyseal trabecularization" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12223", "question": "What is associated with Elevated urinary uroporphyrin level?", "seeds": [ "Elevated urinary uroporphyrin level" ], "gold_answer": "Abnormal urinary organic compound level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12224", "question": "What is associated with Posterior fossa cyst at the fourth ventricle?", "seeds": [ "Posterior fossa cyst at the fourth ventricle" ], "gold_answer": "Abnormal skull base morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12225", "question": "What is associated with Multiple pulmonary cysts?", "seeds": [ "Multiple pulmonary cysts" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12226", "question": "What is associated with Craniofacial dystonia?", "seeds": [ "Craniofacial dystonia" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12227", "question": "What is associated with MYT1L-related developmental delay-intellectual disability-obesity syndrome?", "seeds": [ "MYT1L-related developmental delay-intellectual disability-obesity syndrome" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12228", "question": "What phenotype is associated with Pancreatic cancer?", "seeds": [ "Pancreatic cancer" ], "gold_answer": "Increased level of L-fucose in urine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12229", "question": "What is associated with Urinary tract neoplasm?", "seeds": [ "Urinary tract neoplasm" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12230", "question": "What is associated with Impaired renal concentrating ability?", "seeds": [ "Impaired renal concentrating ability" ], "gold_answer": "Abnormal renal tubular resorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12231", "question": "What is associated with Shukla-Vernon syndrome?", "seeds": [ "Shukla-Vernon syndrome" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12232", "question": "What is associated with Granular macular appearance?", "seeds": [ "Granular macular appearance" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12233", "question": "What is associated with Bifid nasal tip?", "seeds": [ "Bifid nasal tip" ], "gold_answer": "Abnormal nasal tip morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12234", "question": "What is associated with Parenchymal consolidation?", "seeds": [ "Parenchymal consolidation" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12235", "question": "What phenotype is associated with Cardiomyopathy, dilated, 1Z?", "seeds": [ "Cardiomyopathy, dilated, 1Z" ], "gold_answer": "Dilated cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12236", "question": "What is associated with Abnormal middle ear reflexes?", "seeds": [ "Abnormal middle ear reflexes" ], "gold_answer": "Functional abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12237", "question": "What is associated with Abnormal hand diaphysis morphology?", "seeds": [ "Abnormal hand diaphysis morphology" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12238", "question": "What is associated with German syndrome?", "seeds": [ "German syndrome" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12239", "question": "What is associated with Tzanck smear with multinucleated giant cells?", "seeds": [ "Tzanck smear with multinucleated giant cells" ], "gold_answer": "Positive skin infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12240", "question": "What is associated with Serpentine fibula?", "seeds": [ "Serpentine fibula" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12241", "question": "What is associated with Bilateral basal ganglia lesions?", "seeds": [ "Bilateral basal ganglia lesions" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12242", "question": "What is associated with Cone-shaped epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Cone-shaped epiphysis of the proximal phalanx of the 4th finger" ], "gold_answer": "Cone-shaped epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12243", "question": "What is associated with Macular dystrophy, butterfly-shaped pigmentary, 2?", "seeds": [ "Macular dystrophy, butterfly-shaped pigmentary, 2" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12244", "question": "What is associated with Cerebral hemisphere mass lesion?", "seeds": [ "Cerebral hemisphere mass lesion" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12245", "question": "What is associated with Developmental and epileptic encephalopathy 121?", "seeds": [ "Developmental and epileptic encephalopathy 121" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12246", "question": "What is associated with Abnormality of carpal bone ossification?", "seeds": [ "Abnormality of carpal bone ossification" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12247", "question": "What is associated with Pelvic mass?", "seeds": [ "Pelvic mass" ], "gold_answer": "Abnormal abdomen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12248", "question": "What is associated with Abnormal vascular physiology?", "seeds": [ "Abnormal vascular physiology" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12249", "question": "What phenotype is associated with Desbuquois dysplasia 2?", "seeds": [ "Desbuquois dysplasia 2" ], "gold_answer": "Hypodontia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12250", "question": "What is associated with Upper limb dysmetria?", "seeds": [ "Upper limb dysmetria" ], "gold_answer": "Limb dysmetria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12251", "question": "What is associated with Short columella?", "seeds": [ "Short columella" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12252", "question": "What is associated with Esophageal varix?", "seeds": [ "Esophageal varix" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12253", "question": "What is associated with Extension of eyebrows towards upper eyelid?", "seeds": [ "Extension of eyebrows towards upper eyelid" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12254", "question": "What phenotype is associated with Hyperinsulinemic hypoglycemia, familial, 2?", "seeds": [ "Hyperinsulinemic hypoglycemia, familial, 2" ], "gold_answer": "Nesidioblastosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12255", "question": "What is associated with Duplication of the distal phalanx of the 2nd toe?", "seeds": [ "Duplication of the distal phalanx of the 2nd toe" ], "gold_answer": "Duplication of distal phalanx of toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12256", "question": "What is associated with Type II radial ray deficiency?", "seeds": [ "Type II radial ray deficiency" ], "gold_answer": "Abnormal morphology of the radius", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12257", "question": "What phenotype is associated with Cancer-associated retinopathy?", "seeds": [ "Cancer-associated retinopathy" ], "gold_answer": "Anti-recoverin antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12258", "question": "What is associated with Interlobular septal thickening?", "seeds": [ "Interlobular septal thickening" ], "gold_answer": "Pulmonary interstitial high-resolution computed tomography abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12259", "question": "What is associated with Chest pain?", "seeds": [ "Chest pain" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12260", "question": "What is associated with Abnormal tissue alpha-N-acetylglucosaminidase activity?", "seeds": [ "Abnormal tissue alpha-N-acetylglucosaminidase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12261", "question": "What phenotype is associated with Craniosynostosis, Herrmann-Opitz type?", "seeds": [ "Craniosynostosis, Herrmann-Opitz type" ], "gold_answer": "Atresia of the external auditory canal", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12262", "question": "What is associated with Annular pancreas?", "seeds": [ "Annular pancreas" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12263", "question": "What is associated with Protuberances at ends of long bones?", "seeds": [ "Protuberances at ends of long bones" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12264", "question": "What is associated with Bipolar affective disorder?", "seeds": [ "Bipolar affective disorder" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12265", "question": "What is associated with Decerebrate rigidity?", "seeds": [ "Decerebrate rigidity" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12266", "question": "What is associated with 2-oxoadipic aciduria?", "seeds": [ "2-oxoadipic aciduria" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12267", "question": "What is associated with Fuchs endothelial corneal dystrophy?", "seeds": [ "Fuchs endothelial corneal dystrophy" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12268", "question": "What is associated with Progressive familial intrahepatic cholestasis type 1?", "seeds": [ "Progressive familial intrahepatic cholestasis type 1" ], "gold_answer": "ATP8B1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_12269", "question": "What is associated with Knuckle pads?", "seeds": [ "Knuckle pads" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12270", "question": "What is associated with Developmental and epileptic encephalopathy 65?", "seeds": [ "Developmental and epileptic encephalopathy 65" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12271", "question": "What is associated with Severe expressive language delay?", "seeds": [ "Severe expressive language delay" ], "gold_answer": "Expressive language delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12272", "question": "What phenotype is associated with Polydactyly, postaxial, type A10?", "seeds": [ "Polydactyly, postaxial, type A10" ], "gold_answer": "Postaxial foot polydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12273", "question": "What is associated with Valgus instability of the elbow?", "seeds": [ "Valgus instability of the elbow" ], "gold_answer": "Elbow instability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12274", "question": "What is associated with Dermoids of cornea?", "seeds": [ "Dermoids of cornea" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12275", "question": "What phenotype is associated with Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion?", "seeds": [ "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion" ], "gold_answer": "Short neck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12276", "question": "What is associated with Calcific stippling?", "seeds": [ "Calcific stippling" ], "gold_answer": "Ectopic calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12277", "question": "What phenotype is associated with Cronkhite-Canada syndrome?", "seeds": [ "Cronkhite-Canada syndrome" ], "gold_answer": "Anorexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12278", "question": "What phenotype is associated with Mitochondrial DNA depletion syndrome 18?", "seeds": [ "Mitochondrial DNA depletion syndrome 18" ], "gold_answer": "Elevated urinary quinolinic acid level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12279", "question": "What is associated with Polycoria?", "seeds": [ "Polycoria" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12280", "question": "What is associated with Abnormal radioactive iodine uptake test result?", "seeds": [ "Abnormal radioactive iodine uptake test result" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12281", "question": "What is associated with C1-C2 vertebral abnormality?", "seeds": [ "C1-C2 vertebral abnormality" ], "gold_answer": "Abnormality of the cervical spine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12282", "question": "What is associated with Gottron sign?", "seeds": [ "Gottron sign" ], "gold_answer": "Macule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12283", "question": "What is associated with Elevated CSF alpha-ketoglutarate concentration?", "seeds": [ "Elevated CSF alpha-ketoglutarate concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12284", "question": "What is associated with Fibular dimelia-diplopodia syndrome?", "seeds": [ "Fibular dimelia-diplopodia syndrome" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12285", "question": "What is associated with Hypoaldosteronism, congenital, due to CMO II deficiency?", "seeds": [ "Hypoaldosteronism, congenital, due to CMO II deficiency" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12286", "question": "What is associated with Abnormal cutaneous collagen fibril morphology?", "seeds": [ "Abnormal cutaneous collagen fibril morphology" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12287", "question": "What is associated with BOR syndrome?", "seeds": [ "BOR syndrome" ], "gold_answer": "Dilatation of the renal pelvis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12288", "question": "What is associated with Cor triatriatum sinister?", "seeds": [ "Cor triatriatum sinister" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12289", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 23?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 23" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12290", "question": "What is associated with Colorectal polyposis?", "seeds": [ "Colorectal polyposis" ], "gold_answer": "Neoplasm of the rectum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12291", "question": "What phenotype is associated with Oculo-auriculo-vertebral spectrum?", "seeds": [ "Oculo-auriculo-vertebral spectrum" ], "gold_answer": "Choanal atresia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12292", "question": "What is associated with AMED syndrome, digenic?", "seeds": [ "AMED syndrome, digenic" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12293", "question": "What is associated with Bladder stones?", "seeds": [ "Bladder stones" ], "gold_answer": "Abnormal bladder morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12294", "question": "What is associated with Craniofacial dysostosis?", "seeds": [ "Craniofacial dysostosis" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12295", "question": "What is associated with 1q21.1 microdeletion syndrome?", "seeds": [ "1q21.1 microdeletion syndrome" ], "gold_answer": "Hyperactivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12296", "question": "What is associated with Oligoarticular juvenile idiopathic arthritis?", "seeds": [ "Oligoarticular juvenile idiopathic arthritis" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12297", "question": "What phenotype is associated with Sarcoidosis?", "seeds": [ "Sarcoidosis" ], "gold_answer": "Erythema nodosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12298", "question": "What is associated with Enlarged fossa interpeduncularis?", "seeds": [ "Enlarged fossa interpeduncularis" ], "gold_answer": "Ventriculomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12299", "question": "What phenotype is associated with Nail disorder, nonsyndromic congenital, 1?", "seeds": [ "Nail disorder, nonsyndromic congenital, 1" ], "gold_answer": "Onychogryphosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12300", "question": "What is associated with Irregular myelin loops?", "seeds": [ "Irregular myelin loops" ], "gold_answer": "Peripheral hypermyelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12301", "question": "What is associated with Hepatic vascular malformations?", "seeds": [ "Hepatic vascular malformations" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12302", "question": "What is associated with Disciform macular scar?", "seeds": [ "Disciform macular scar" ], "gold_answer": "Retinal atrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12303", "question": "What is associated with Retinal dots?", "seeds": [ "Retinal dots" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12304", "question": "What is associated with Creatine phosphokinase, elevated serum?", "seeds": [ "Creatine phosphokinase, elevated serum" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12305", "question": "What phenotype is associated with Glaucoma 1, open angle, P?", "seeds": [ "Glaucoma 1, open angle, P" ], "gold_answer": "Increased cup-to-disc ratio", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12306", "question": "What is associated with Coronary artery dissection?", "seeds": [ "Coronary artery dissection" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12307", "question": "What phenotype is associated with Maturity-onset diabetes of the young, type 12?", "seeds": [ "Maturity-onset diabetes of the young, type 12" ], "gold_answer": "Transient neonatal diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12308", "question": "What is associated with Broad proximal phalanx of the thumb?", "seeds": [ "Broad proximal phalanx of the thumb" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12309", "question": "What is associated with Neuhauser syndrome?", "seeds": [ "Neuhauser syndrome" ], "gold_answer": "Abnormal soft palate morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12310", "question": "What is associated with Nasopharyngeal carcinoma?", "seeds": [ "Nasopharyngeal carcinoma" ], "gold_answer": "NFKBIA", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_12311", "question": "What phenotype is associated with Atypical Gaucher disease due to saposin C deficiency?", "seeds": [ "Atypical Gaucher disease due to saposin C deficiency" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12312", "question": "What phenotype is associated with Leber congenital amaurosis 4?", "seeds": [ "Leber congenital amaurosis 4" ], "gold_answer": "Nyctalopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12313", "question": "What is associated with Intellectual disability, Buenos-Aires type?", "seeds": [ "Intellectual disability, Buenos-Aires type" ], "gold_answer": "Sensory hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12314", "question": "What is associated with Increased hepatic echogenicity?", "seeds": [ "Increased hepatic echogenicity" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12315", "question": "What is associated with Decreased circulating antimullerian hormone circulation?", "seeds": [ "Decreased circulating antimullerian hormone circulation" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12316", "question": "What is associated with Hypermanganesemia with dystonia 2?", "seeds": [ "Hypermanganesemia with dystonia 2" ], "gold_answer": "Abnormal morphology of the musculature of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12317", "question": "What is associated with Single-lobed right lung?", "seeds": [ "Single-lobed right lung" ], "gold_answer": "Abnormal lung lobation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12318", "question": "What is associated with Osteoarthritis susceptibility 1?", "seeds": [ "Osteoarthritis susceptibility 1" ], "gold_answer": "Arthritis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12319", "question": "What is associated with Neurodevelopmental disorder with impaired language and ataxia and with or without seizures?", "seeds": [ "Neurodevelopmental disorder with impaired language and ataxia and with or without seizures" ], "gold_answer": "Unusual infection by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12320", "question": "What is associated with Anti-thyroid antibody positivity?", "seeds": [ "Anti-thyroid antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12321", "question": "What is associated with Myopia 21, autosomal dominant?", "seeds": [ "Myopia 21, autosomal dominant" ], "gold_answer": "Abnormality of refraction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12322", "question": "What phenotype is associated with Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome?", "seeds": [ "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" ], "gold_answer": "Absent speech", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12323", "question": "What is associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome 2?", "seeds": [ "Megacystis-microcolon-intestinal hypoperistalsis syndrome 2" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12324", "question": "What is associated with Acanthoma?", "seeds": [ "Acanthoma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12325", "question": "What phenotype is associated with Lethal Kniest-like dysplasia?", "seeds": [ "Lethal Kniest-like dysplasia" ], "gold_answer": "Severe short-limb dwarfism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12326", "question": "What is associated with Mosaic monosomy X syndrome?", "seeds": [ "Mosaic monosomy X syndrome" ], "gold_answer": "Fetal ultrasound soft marker", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12327", "question": "What is associated with Reduced circulating lipoprotein(a) concentration?", "seeds": [ "Reduced circulating lipoprotein(a) concentration" ], "gold_answer": "Abnormality of lipoprotein cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12328", "question": "What is associated with Abnormal neoplastic cell morphology?", "seeds": [ "Abnormal neoplastic cell morphology" ], "gold_answer": "Histopathological abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12329", "question": "What is associated with Developmental and epileptic encephalopathy 120?", "seeds": [ "Developmental and epileptic encephalopathy 120" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12330", "question": "What is associated with Nemaline myopathy 3?", "seeds": [ "Nemaline myopathy 3" ], "gold_answer": "Flexion contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12331", "question": "What is associated with Blood group O?", "seeds": [ "Blood group O" ], "gold_answer": "Blood group", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12332", "question": "What phenotype is associated with Papillon-Lefèvre syndrome?", "seeds": [ "Papillon-Lefèvre syndrome" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12333", "question": "What is associated with Osteolytic defects of the phalanges of the 2nd finger?", "seeds": [ "Osteolytic defects of the phalanges of the 2nd finger" ], "gold_answer": "Osteolytic defects of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12334", "question": "What phenotype is associated with Lymphatic malformation 8?", "seeds": [ "Lymphatic malformation 8" ], "gold_answer": "Polyhydramnios", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12335", "question": "What is associated with Elevated circulating deoxyuridine concentration?", "seeds": [ "Elevated circulating deoxyuridine concentration" ], "gold_answer": "Abnormal circulating nucleobase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12336", "question": "What phenotype is associated with Ataxia-oculomotor apraxia 4?", "seeds": [ "Ataxia-oculomotor apraxia 4" ], "gold_answer": "Atrophy/Degeneration affecting the brainstem", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12337", "question": "What phenotype is associated with Cutis laxa, autosomal dominant 2?", "seeds": [ "Cutis laxa, autosomal dominant 2" ], "gold_answer": "Mitral regurgitation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12338", "question": "What is associated with Beaded bile ducts?", "seeds": [ "Beaded bile ducts" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12339", "question": "What is associated with Fixed elbow flexion?", "seeds": [ "Fixed elbow flexion" ], "gold_answer": "Abnormal elbow physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12340", "question": "What is associated with Spastic tetraplegia?", "seeds": [ "Spastic tetraplegia" ], "gold_answer": "Appendicular spasticity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12341", "question": "What is associated with Delayed onset bleeding?", "seeds": [ "Delayed onset bleeding" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12342", "question": "What is associated with Epidermolysis bullosa simplex 2B, generalized intermediate?", "seeds": [ "Epidermolysis bullosa simplex 2B, generalized intermediate" ], "gold_answer": "Abnormality of the plantar skin of foot", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12343", "question": "What is associated with Leprosy, susceptibility to?", "seeds": [ "Leprosy, susceptibility to" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12344", "question": "What is associated with Hypoplastic dermoepidermal hemidesmosomes?", "seeds": [ "Hypoplastic dermoepidermal hemidesmosomes" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12345", "question": "What is associated with Neurocytic rosette?", "seeds": [ "Neurocytic rosette" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12346", "question": "What is associated with Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency?", "seeds": [ "Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency" ], "gold_answer": "EMG: impaired neuromuscular transmission", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12347", "question": "What is associated with Medially sloping radial metaphysis?", "seeds": [ "Medially sloping radial metaphysis" ], "gold_answer": "Abnormal radial metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12348", "question": "What is associated with Fish odor?", "seeds": [ "Fish odor" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12349", "question": "What is associated with Joubert syndrome 14?", "seeds": [ "Joubert syndrome 14" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12350", "question": "What phenotype is associated with Intrauterine growth retardation with increased mitomycin C sensitivity?", "seeds": [ "Intrauterine growth retardation with increased mitomycin C sensitivity" ], "gold_answer": "Postnatal growth retardation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12351", "question": "What phenotype is associated with B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome?", "seeds": [ "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome" ], "gold_answer": "Kyphoscoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12352", "question": "What is associated with Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia?", "seeds": [ "Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12353", "question": "What is associated with Gordon reflex?", "seeds": [ "Gordon reflex" ], "gold_answer": "Abnormal spinal cord physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12354", "question": "What is associated with Osteolytic defects of the proximal phalanx of the 4th finger?", "seeds": [ "Osteolytic defects of the proximal phalanx of the 4th finger" ], "gold_answer": "Osteolytic defects of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12355", "question": "What phenotype is associated with Neuronopathy, distal hereditary motor, type IIC?", "seeds": [ "Neuronopathy, distal hereditary motor, type IIC" ], "gold_answer": "Hand muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12356", "question": "What is associated with Reduced circulating fibroblast growth factor 23 concentration?", "seeds": [ "Reduced circulating fibroblast growth factor 23 concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12357", "question": "What is associated with Cone-Rod dystrophy 2?", "seeds": [ "Cone-Rod dystrophy 2" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12358", "question": "What is associated with Ovarian hyperstimulation syndrome?", "seeds": [ "Ovarian hyperstimulation syndrome" ], "gold_answer": "Increased circulating androgen concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12359", "question": "What is associated with Myopia 9?", "seeds": [ "Myopia 9" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12360", "question": "What is associated with Spastic paraplegia-severe developmental delay-epilepsy syndrome?", "seeds": [ "Spastic paraplegia-severe developmental delay-epilepsy syndrome" ], "gold_answer": "Abnormal peripheral nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12361", "question": "What is associated with Uhl's anomaly?", "seeds": [ "Uhl's anomaly" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12362", "question": "What is associated with Increased circulating androgen concentration?", "seeds": [ "Increased circulating androgen concentration" ], "gold_answer": "Abnormal circulating androgen level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12363", "question": "What is associated with Angulated forearm bones?", "seeds": [ "Angulated forearm bones" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12364", "question": "What is associated with X-linked Charcot-Marie-Tooth disease type 5?", "seeds": [ "X-linked Charcot-Marie-Tooth disease type 5" ], "gold_answer": "Abnormal cognitive process", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12365", "question": "What is associated with Polydactyly, postaxial, type A7?", "seeds": [ "Polydactyly, postaxial, type A7" ], "gold_answer": "Duplication involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12366", "question": "What is associated with Reduced circulating aspartate aminotransferase concentration?", "seeds": [ "Reduced circulating aspartate aminotransferase concentration" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12367", "question": "What phenotype is associated with Sternal cleft?", "seeds": [ "Sternal cleft" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12368", "question": "What is associated with Arrhythmia?", "seeds": [ "Arrhythmia" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12369", "question": "What is associated with Increased CSF ribitol concentration?", "seeds": [ "Increased CSF ribitol concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12370", "question": "What is associated with Serpentine skin location?", "seeds": [ "Serpentine skin location" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12371", "question": "What is associated with Ulnar translocation of the carpus?", "seeds": [ "Ulnar translocation of the carpus" ], "gold_answer": "Abnormality of the wrist", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12372", "question": "What is associated with Aplasia/Hypoplasia of the frontal sinuses?", "seeds": [ "Aplasia/Hypoplasia of the frontal sinuses" ], "gold_answer": "Aplasia/Hypoplasia involving the sinuses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12373", "question": "What is associated with Renal interstitial inflammation?", "seeds": [ "Renal interstitial inflammation" ], "gold_answer": "Abnormal renal interstitial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12374", "question": "What is associated with Hypophosphatemic rickets, X-linked dominant?", "seeds": [ "Hypophosphatemic rickets, X-linked dominant" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12375", "question": "What is associated with Latent myopia?", "seeds": [ "Latent myopia" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12376", "question": "What is associated with Cerebellar gliosis?", "seeds": [ "Cerebellar gliosis" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12377", "question": "What is associated with Dysphasia, familial developmental?", "seeds": [ "Dysphasia, familial developmental" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12378", "question": "What is associated with Anti-centromere protein A antibody positivity?", "seeds": [ "Anti-centromere protein A antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12379", "question": "What is associated with Greater auricular nerve thickening?", "seeds": [ "Greater auricular nerve thickening" ], "gold_answer": "Abnormal peripheral nerve morphology by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12380", "question": "What is associated with Tapered finger?", "seeds": [ "Tapered finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12381", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2R?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2R" ], "gold_answer": "Abnormal tracheal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12382", "question": "What is associated with Abnormal lower limb epiphysis morphology?", "seeds": [ "Abnormal lower limb epiphysis morphology" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12383", "question": "What is associated with Chondritis of pinna?", "seeds": [ "Chondritis of pinna" ], "gold_answer": "Abnormal cartilage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12384", "question": "What is associated with Foveal photoreceptor outer segment loss on macular OCT?", "seeds": [ "Foveal photoreceptor outer segment loss on macular OCT" ], "gold_answer": "Abnormal foveal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12385", "question": "What is associated with Focal segmental glomerulosclerosis?", "seeds": [ "Focal segmental glomerulosclerosis" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12386", "question": "What is associated with Increased total bilirubin?", "seeds": [ "Increased total bilirubin" ], "gold_answer": "Abnormal circulating bilirubin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12387", "question": "What is associated with Glycogen storage disease due to muscle glycogen phosphorylase deficiency?", "seeds": [ "Glycogen storage disease due to muscle glycogen phosphorylase deficiency" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12388", "question": "What is associated with Elevated circulating trihydroxycholestanoic acid concentration?", "seeds": [ "Elevated circulating trihydroxycholestanoic acid concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12389", "question": "What is associated with Social disinhibition?", "seeds": [ "Social disinhibition" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12390", "question": "What is associated with Dysplasia of the superior cerebellar vermis?", "seeds": [ "Dysplasia of the superior cerebellar vermis" ], "gold_answer": "Abnormal cerebellar vermis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12391", "question": "What is associated with Deformed tarsal bones?", "seeds": [ "Deformed tarsal bones" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12392", "question": "What is associated with Sacral segmentation defect?", "seeds": [ "Sacral segmentation defect" ], "gold_answer": "Vertebral segmentation defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12393", "question": "What is associated with Cone-shaped epiphyses of the hallux?", "seeds": [ "Cone-shaped epiphyses of the hallux" ], "gold_answer": "Abnormality of the epiphyses of the hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12394", "question": "What is associated with Freckles in sun-exposed areas?", "seeds": [ "Freckles in sun-exposed areas" ], "gold_answer": "Hyperpigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12395", "question": "What is associated with Pseudovaginal perineoscrotal hypospadias?", "seeds": [ "Pseudovaginal perineoscrotal hypospadias" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12396", "question": "What is associated with Poor hand-eye coordination?", "seeds": [ "Poor hand-eye coordination" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12397", "question": "What is associated with Nummular keratitis?", "seeds": [ "Nummular keratitis" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12398", "question": "What is associated with Abnormal light-adapted electroretinogram?", "seeds": [ "Abnormal light-adapted electroretinogram" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12399", "question": "What is associated with Anti-soluble liver antigen/liver pancreas antibody positivity?", "seeds": [ "Anti-soluble liver antigen/liver pancreas antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12400", "question": "What is associated with Cerebral cortical atrophy?", "seeds": [ "Cerebral cortical atrophy" ], "gold_answer": "Brain atrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12401", "question": "What is associated with Second metatarsal posteriorly placed?", "seeds": [ "Second metatarsal posteriorly placed" ], "gold_answer": "Abnormal metatarsal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12402", "question": "What is associated with Word salad?", "seeds": [ "Word salad" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12403", "question": "What is associated with Forceps delivery?", "seeds": [ "Forceps delivery" ], "gold_answer": "Abnormal delivery", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12404", "question": "What is associated with Abnormal circulating dicarboxylic acid concentration?", "seeds": [ "Abnormal circulating dicarboxylic acid concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12405", "question": "What is associated with Mesoaxial hand polydactyly?", "seeds": [ "Mesoaxial hand polydactyly" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12406", "question": "What is associated with Double eyebrow?", "seeds": [ "Double eyebrow" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12407", "question": "What is associated with Constitutional symptom?", "seeds": [ "Constitutional symptom" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12408", "question": "What is associated with Otofaciocervical syndrome?", "seeds": [ "Otofaciocervical syndrome" ], "gold_answer": "Abnormal cochlea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12409", "question": "What is associated with Oguchi disease 1?", "seeds": [ "Oguchi disease 1" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12410", "question": "What is associated with EEG with diffuse acceleration?", "seeds": [ "EEG with diffuse acceleration" ], "gold_answer": "Abnormal nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12411", "question": "What is associated with Duplicated tragus?", "seeds": [ "Duplicated tragus" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12412", "question": "What is associated with Microdontia of primary teeth?", "seeds": [ "Microdontia of primary teeth" ], "gold_answer": "Abnormality of primary teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12413", "question": "What is associated with GM2-gangliosidosis, AB variant?", "seeds": [ "GM2-gangliosidosis, AB variant" ], "gold_answer": "Long-tract sign", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12414", "question": "What is associated with Lack of gonadotropin-releasing hormone pulsatility?", "seeds": [ "Lack of gonadotropin-releasing hormone pulsatility" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12415", "question": "What is associated with Ciliary dyskinesia, primary, 54?", "seeds": [ "Ciliary dyskinesia, primary, 54" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12416", "question": "What is associated with Elevated circulating dodecenoylcarnitine concentration?", "seeds": [ "Elevated circulating dodecenoylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12417", "question": "What phenotype is associated with Ankylosing vertebral hyperostosis with tylosis?", "seeds": [ "Ankylosing vertebral hyperostosis with tylosis" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12418", "question": "What phenotype is associated with Hemoglobin C-beta-thalassemia syndrome?", "seeds": [ "Hemoglobin C-beta-thalassemia syndrome" ], "gold_answer": "Abnormal hemoglobin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12419", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 39?", "seeds": [ "Autosomal recessive spastic paraplegia type 39" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12420", "question": "What is associated with Wolfram-Like syndrome, autosomal dominant?", "seeds": [ "Wolfram-Like syndrome, autosomal dominant" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12421", "question": "What is associated with Symmetric T2-signal increase with T1-signal decrease in the putamen?", "seeds": [ "Symmetric T2-signal increase with T1-signal decrease in the putamen" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12422", "question": "What is associated with Blue sclerae?", "seeds": [ "Blue sclerae" ], "gold_answer": "Abnormal sclera morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12423", "question": "What is associated with Curved distal phalanx of the 5th finger?", "seeds": [ "Curved distal phalanx of the 5th finger" ], "gold_answer": "Abnormality of the distal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12424", "question": "What phenotype is associated with 7p22.1 microduplication syndrome?", "seeds": [ "7p22.1 microduplication syndrome" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12425", "question": "What is associated with Reduced terminal:vellus ratio?", "seeds": [ "Reduced terminal:vellus ratio" ], "gold_answer": "Abnormal terminal:vellus ratio", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12426", "question": "What phenotype is associated with Acute adrenal insufficiency?", "seeds": [ "Acute adrenal insufficiency" ], "gold_answer": "Hyperkalemic metabolic acidosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12427", "question": "What is associated with Fractured facial bone?", "seeds": [ "Fractured facial bone" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12428", "question": "What is associated with Fractured distal phalanx of manual digit 5?", "seeds": [ "Fractured distal phalanx of manual digit 5" ], "gold_answer": "Abnormal 5th finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12429", "question": "What is associated with Hypotrichosis 6?", "seeds": [ "Hypotrichosis 6" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12430", "question": "What is associated with Anterior bowing of long bones?", "seeds": [ "Anterior bowing of long bones" ], "gold_answer": "Abnormal diaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12431", "question": "What phenotype is associated with Renal tubular acidosis, distal, autosomal dominant?", "seeds": [ "Renal tubular acidosis, distal, autosomal dominant" ], "gold_answer": "Diarrhea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12432", "question": "What is associated with Elevated circulating 4-hydroxyphenylacetic acid concentration?", "seeds": [ "Elevated circulating 4-hydroxyphenylacetic acid concentration" ], "gold_answer": "Abnormal circulating monocarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12433", "question": "What is associated with Trichorhinophalangeal syndrome type 1?", "seeds": [ "Trichorhinophalangeal syndrome type 1" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12434", "question": "What is associated with Focal cortical dysplasia type IIIb?", "seeds": [ "Focal cortical dysplasia type IIIb" ], "gold_answer": "Focal cortical dysplasia type III", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12435", "question": "What is associated with Cortical dysplasia?", "seeds": [ "Cortical dysplasia" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12436", "question": "What is associated with Elevated urine keto acid level?", "seeds": [ "Elevated urine keto acid level" ], "gold_answer": "Organic aciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12437", "question": "What is associated with Epileptic encephalopathy, early infantile, 60?", "seeds": [ "Epileptic encephalopathy, early infantile, 60" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12438", "question": "What is associated with Renal steatosis?", "seeds": [ "Renal steatosis" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12439", "question": "What is associated with Anti-factor XIII antibody positivity?", "seeds": [ "Anti-factor XIII antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12440", "question": "What is associated with Laryngeal stenosis?", "seeds": [ "Laryngeal stenosis" ], "gold_answer": "Abnormality of the upper respiratory tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12441", "question": "What phenotype is associated with Corneal endothelial dystrophy and perceptive deafness?", "seeds": [ "Corneal endothelial dystrophy and perceptive deafness" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12442", "question": "What is associated with Oblique fracture?", "seeds": [ "Oblique fracture" ], "gold_answer": "Fracture type", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12443", "question": "What is associated with SLC40A1-related hemochromatosis?", "seeds": [ "SLC40A1-related hemochromatosis" ], "gold_answer": "SLC40A1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_train_12444", "question": "What phenotype is associated with Gallbladder disease 1?", "seeds": [ "Gallbladder disease 1" ], "gold_answer": "Elevated circulating hepatic transaminase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12445", "question": "What is associated with Abnormality of the anterior pituitary?", "seeds": [ "Abnormality of the anterior pituitary" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12446", "question": "What is associated with Sclerosis of proximal phalanx of toe?", "seeds": [ "Sclerosis of proximal phalanx of toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12447", "question": "What is associated with Focal aware sensory seizure with auditory features?", "seeds": [ "Focal aware sensory seizure with auditory features" ], "gold_answer": "Epileptic aura", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12448", "question": "What is associated with Persistent head lag?", "seeds": [ "Persistent head lag" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12449", "question": "What is associated with Edema of the dorsum of feet?", "seeds": [ "Edema of the dorsum of feet" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12450", "question": "What is associated with Neurodevelopmental disorder with progressive spasticity and brain abnormalities?", "seeds": [ "Neurodevelopmental disorder with progressive spasticity and brain abnormalities" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12451", "question": "What is associated with Fragmentation of the epiphyses of the 5th toe?", "seeds": [ "Fragmentation of the epiphyses of the 5th toe" ], "gold_answer": "Abnormal fifth toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12452", "question": "What is associated with Short proximal phalanx of the 5th toe?", "seeds": [ "Short proximal phalanx of the 5th toe" ], "gold_answer": "Short phalanx of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12453", "question": "What is associated with Recurrent deep vein thrombosis?", "seeds": [ "Recurrent deep vein thrombosis" ], "gold_answer": "Venous thrombosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12454", "question": "What is associated with Tessier number 8 facial cleft?", "seeds": [ "Tessier number 8 facial cleft" ], "gold_answer": "Transverse facial cleft", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12455", "question": "What is associated with Hyperoxaluria, primary, type I?", "seeds": [ "Hyperoxaluria, primary, type I" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12456", "question": "What is associated with Nonspecific interstitial pneumonia?", "seeds": [ "Nonspecific interstitial pneumonia" ], "gold_answer": "Abnormal pulmonary interstitial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12457", "question": "What is associated with Epilepsy, early-onset, vitamin b6-dependent?", "seeds": [ "Epilepsy, early-onset, vitamin b6-dependent" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12458", "question": "What is associated with Vaginal mucosal ulceration?", "seeds": [ "Vaginal mucosal ulceration" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12459", "question": "What is associated with Abnormality of the musculature of the upper limbs?", "seeds": [ "Abnormality of the musculature of the upper limbs" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12460", "question": "What is associated with Abnormality of mental function?", "seeds": [ "Abnormality of mental function" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12461", "question": "What is associated with Intracranial cystic lesion?", "seeds": [ "Intracranial cystic lesion" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12462", "question": "What phenotype is associated with Absent radius-anogenital anomalies syndrome?", "seeds": [ "Absent radius-anogenital anomalies syndrome" ], "gold_answer": "Perineal fistula", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12463", "question": "What is associated with Cholestasis, progressive familial intrahepatic, 3?", "seeds": [ "Cholestasis, progressive familial intrahepatic, 3" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12464", "question": "What is associated with Thin spermatozoon midpiece?", "seeds": [ "Thin spermatozoon midpiece" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12465", "question": "What is associated with Abnormality of the chin?", "seeds": [ "Abnormality of the chin" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12466", "question": "What is associated with Failure of phenylephrine to induce blanching of eye redness?", "seeds": [ "Failure of phenylephrine to induce blanching of eye redness" ], "gold_answer": "Inflammatory abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12467", "question": "What is associated with Bullet-shaped phalanges of the 2nd finger?", "seeds": [ "Bullet-shaped phalanges of the 2nd finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12468", "question": "What is associated with Mietens-Weber syndrome?", "seeds": [ "Mietens-Weber syndrome" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12469", "question": "What is associated with Aplasia of the inner ear?", "seeds": [ "Aplasia of the inner ear" ], "gold_answer": "Abnormal inner ear morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12470", "question": "What is associated with Yellow nail syndrome?", "seeds": [ "Yellow nail syndrome" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12471", "question": "What is associated with Abnormal muscle fiber alpha sarcoglycan?", "seeds": [ "Abnormal muscle fiber alpha sarcoglycan" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12472", "question": "What is associated with Macrocytic dyserythropoietic anemia?", "seeds": [ "Macrocytic dyserythropoietic anemia" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12473", "question": "What is associated with Skin dimple?", "seeds": [ "Skin dimple" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12474", "question": "What is associated with Congenital ichthyosis-microcephalus-tetraplegia syndrome?", "seeds": [ "Congenital ichthyosis-microcephalus-tetraplegia syndrome" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12475", "question": "What phenotype is associated with CYSTATHIONINURIA?", "seeds": [ "CYSTATHIONINURIA" ], "gold_answer": "Cystathioninuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12476", "question": "What phenotype is associated with Non-distal deletion 10q syndrome?", "seeds": [ "Non-distal deletion 10q syndrome" ], "gold_answer": "Upslanted palpebral fissure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12477", "question": "What is associated with Mediastinal teratoma?", "seeds": [ "Mediastinal teratoma" ], "gold_answer": "Embryonal neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12478", "question": "What is associated with Retrobulbar optic neuritis?", "seeds": [ "Retrobulbar optic neuritis" ], "gold_answer": "Optic neuritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12479", "question": "What is associated with Wind-swept deformity of the knees?", "seeds": [ "Wind-swept deformity of the knees" ], "gold_answer": "Bowing of the legs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12480", "question": "What is associated with Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome?", "seeds": [ "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12481", "question": "What is associated with Mannose 6-phosphate receptor recognition defect, Lebanese type?", "seeds": [ "Mannose 6-phosphate receptor recognition defect, Lebanese type" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12482", "question": "What is associated with Square face?", "seeds": [ "Square face" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12483", "question": "What is associated with Presyncope?", "seeds": [ "Presyncope" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12484", "question": "What is associated with Long hairstyle?", "seeds": [ "Long hairstyle" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12485", "question": "What is associated with CIDEC-related familial partial lipodystrophy?", "seeds": [ "CIDEC-related familial partial lipodystrophy" ], "gold_answer": "Abnormal glucose homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12486", "question": "What phenotype is associated with Acrofrontofacionasal dysostosis 1?", "seeds": [ "Acrofrontofacionasal dysostosis 1" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12487", "question": "What is associated with Vascular malformation of the lip?", "seeds": [ "Vascular malformation of the lip" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12488", "question": "What is associated with Elevated urine hyaluronic acid level?", "seeds": [ "Elevated urine hyaluronic acid level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12489", "question": "What is associated with Pes valgus?", "seeds": [ "Pes valgus" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12490", "question": "What is associated with Marsili syndrome?", "seeds": [ "Marsili syndrome" ], "gold_answer": "Hypohidrosis or hyperhidrosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12491", "question": "What is associated with Scalp edema?", "seeds": [ "Scalp edema" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12492", "question": "What phenotype is associated with Congenital bile acid synthesis defect type 1?", "seeds": [ "Congenital bile acid synthesis defect type 1" ], "gold_answer": "Jaundice", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12493", "question": "What is associated with Pneumonia?", "seeds": [ "Pneumonia" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12494", "question": "What is associated with Scapulohumeral synostosis?", "seeds": [ "Scapulohumeral synostosis" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12495", "question": "What is associated with Sacral dimple?", "seeds": [ "Sacral dimple" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12496", "question": "What is associated with Familial apolipoprotein C-II deficiency?", "seeds": [ "Familial apolipoprotein C-II deficiency" ], "gold_answer": "APOC2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_12497", "question": "What is associated with Aplasia/Hypoplasia of the midbrain?", "seeds": [ "Aplasia/Hypoplasia of the midbrain" ], "gold_answer": "Abnormal midbrain morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12498", "question": "What is associated with Deafness, autosomal dominant 6?", "seeds": [ "Deafness, autosomal dominant 6" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12499", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 85, with or without midline brain defects?", "seeds": [ "Developmental and epileptic encephalopathy 85, with or without midline brain defects" ], "gold_answer": "Thin upper lip vermilion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12500", "question": "What is associated with Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included?", "seeds": [ "Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included" ], "gold_answer": "Aplasia/Hypoplasia of the fovea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12501", "question": "What phenotype is associated with Immune thrombocytopenia?", "seeds": [ "Immune thrombocytopenia" ], "gold_answer": "Anti-glutamic acid decarboxylase antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12502", "question": "What phenotype is associated with Short-rib thoracic dysplasia 12?", "seeds": [ "Short-rib thoracic dysplasia 12" ], "gold_answer": "Hypoplastic scapulae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12503", "question": "What is associated with Elevated circulating 2-hydroxybutyric acid concentration?", "seeds": [ "Elevated circulating 2-hydroxybutyric acid concentration" ], "gold_answer": "Elevated circulating hydroxybutyric acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12504", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 55, with seizures?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 55, with seizures" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12505", "question": "What is associated with Oculomotor apraxia?", "seeds": [ "Oculomotor apraxia" ], "gold_answer": "Apraxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12506", "question": "What phenotype is associated with 22q11.2 duplication syndrome?", "seeds": [ "22q11.2 duplication syndrome" ], "gold_answer": "Compulsive behaviors", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12507", "question": "What is associated with Alveolar rhabdomyosarcoma?", "seeds": [ "Alveolar rhabdomyosarcoma" ], "gold_answer": "Sarcoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12508", "question": "What phenotype is associated with Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism?", "seeds": [ "Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism" ], "gold_answer": "Nonspherocytic hemolytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12509", "question": "What is associated with Glycopeptiduria?", "seeds": [ "Glycopeptiduria" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12510", "question": "What is associated with Congenital megacalycosis?", "seeds": [ "Congenital megacalycosis" ], "gold_answer": "Dilatation of the renal pelvis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12511", "question": "What phenotype is associated with Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome?", "seeds": [ "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome" ], "gold_answer": "Precocious puberty", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12512", "question": "What is associated with Intellectual developmental disorder, X-linked 113?", "seeds": [ "Intellectual developmental disorder, X-linked 113" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12513", "question": "What is associated with Inclusion body myositis?", "seeds": [ "Inclusion body myositis" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12514", "question": "What is associated with Irregular epiphysis of the middle phalanx of the 2nd toe?", "seeds": [ "Irregular epiphysis of the middle phalanx of the 2nd toe" ], "gold_answer": "Abnormal second toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12515", "question": "What is associated with Congenital disorder of glycosylation, type IIr?", "seeds": [ "Congenital disorder of glycosylation, type IIr" ], "gold_answer": "Abnormal elasticity of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12516", "question": "What phenotype is associated with EAR WAX, WET/DRY?", "seeds": [ "EAR WAX, WET/DRY" ], "gold_answer": "Abnormality of the ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12517", "question": "What is associated with Fetal intra-abdominal umbilical vein varix?", "seeds": [ "Fetal intra-abdominal umbilical vein varix" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12518", "question": "What is associated with Abnormal femoral neck/head morphology?", "seeds": [ "Abnormal femoral neck/head morphology" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12519", "question": "What is associated with Feeding difficulties?", "seeds": [ "Feeding difficulties" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12520", "question": "What is associated with Delayed patellar ossification?", "seeds": [ "Delayed patellar ossification" ], "gold_answer": "Abnormal bone structure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12521", "question": "What phenotype is associated with Fanconi anemia, complementation group W?", "seeds": [ "Fanconi anemia, complementation group W" ], "gold_answer": "Intrauterine growth retardation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12522", "question": "What is associated with Immunodeficiency 123 with HPV-related verrucosis?", "seeds": [ "Immunodeficiency 123 with HPV-related verrucosis" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12523", "question": "What is associated with Paracentral?", "seeds": [ "Paracentral" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12524", "question": "What is associated with Panniculitis?", "seeds": [ "Panniculitis" ], "gold_answer": "Abnormal adipose tissue morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12525", "question": "What is associated with Hypoplasia of the femoral head?", "seeds": [ "Hypoplasia of the femoral head" ], "gold_answer": "Abnormal femoral neck/head morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12526", "question": "What is associated with Pulmonary xanthomatosis?", "seeds": [ "Pulmonary xanthomatosis" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12527", "question": "What is associated with Osteoporosis of vertebrae?", "seeds": [ "Osteoporosis of vertebrae" ], "gold_answer": "Osteoporosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12528", "question": "What is associated with Intellectual developmental disorder, X-linked 30?", "seeds": [ "Intellectual developmental disorder, X-linked 30" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12529", "question": "What is associated with Polymicrogyria, bilateral perisylvian, X-linked?", "seeds": [ "Polymicrogyria, bilateral perisylvian, X-linked" ], "gold_answer": "Abnormal cortical gyration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12530", "question": "What is associated with Anti-measles antibody positivity?", "seeds": [ "Anti-measles antibody positivity" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12531", "question": "What is associated with Double eyebrow?", "seeds": [ "Double eyebrow" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12532", "question": "What is associated with Neurodevelopmental disorder with infantile epileptic spasms?", "seeds": [ "Neurodevelopmental disorder with infantile epileptic spasms" ], "gold_answer": "Delayed gross motor development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12533", "question": "What is associated with Posterior uveitis?", "seeds": [ "Posterior uveitis" ], "gold_answer": "Inflammatory abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12534", "question": "What is associated with Hepatic vein thrombosis?", "seeds": [ "Hepatic vein thrombosis" ], "gold_answer": "Splanchnic vein thrombosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12535", "question": "What is associated with Mirror image polydactyly?", "seeds": [ "Mirror image polydactyly" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12536", "question": "What is associated with Anti-CARP VIII antibody?", "seeds": [ "Anti-CARP VIII antibody" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12537", "question": "What is associated with Thenar muscle weakness?", "seeds": [ "Thenar muscle weakness" ], "gold_answer": "Abnormality of the musculature of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12538", "question": "What is associated with Bleeding disorder, platelet-type, 16?", "seeds": [ "Bleeding disorder, platelet-type, 16" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12539", "question": "What is associated with Thalamic edema?", "seeds": [ "Thalamic edema" ], "gold_answer": "Abnormal diencephalon morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12540", "question": "What is associated with Beemer-Ertbruggen syndrome?", "seeds": [ "Beemer-Ertbruggen syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the mandible", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12541", "question": "What is associated with Anemia, congenital dyserythropoietic, type Ia?", "seeds": [ "Anemia, congenital dyserythropoietic, type Ia" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12542", "question": "What is associated with Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)?", "seeds": [ "Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" ], "gold_answer": "Acidosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12543", "question": "What is associated with Triangular shaped phalanges of the 2nd finger?", "seeds": [ "Triangular shaped phalanges of the 2nd finger" ], "gold_answer": "Abnormal 2nd finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12544", "question": "What is associated with Short-Rib thoracic dysplasia 20 with polydactyly?", "seeds": [ "Short-Rib thoracic dysplasia 20 with polydactyly" ], "gold_answer": "Craniofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12545", "question": "What is associated with Absent distal phalanx of the 3rd toe?", "seeds": [ "Absent distal phalanx of the 3rd toe" ], "gold_answer": "Abnormal third toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12546", "question": "What is associated with Dermatosis papulosa nigra?", "seeds": [ "Dermatosis papulosa nigra" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12547", "question": "What is associated with Aortic valve calcification?", "seeds": [ "Aortic valve calcification" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12548", "question": "What is associated with Schisis association?", "seeds": [ "Schisis association" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12549", "question": "What is associated with ANONYCHIA-ECTRODACTYLY?", "seeds": [ "ANONYCHIA-ECTRODACTYLY" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12550", "question": "What phenotype is associated with Cinca syndrome?", "seeds": [ "Cinca syndrome" ], "gold_answer": "Lymphedema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12551", "question": "What is associated with History of wearing tightly fitted clothing?", "seeds": [ "History of wearing tightly fitted clothing" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12552", "question": "What is associated with DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion?", "seeds": [ "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion" ], "gold_answer": "Coloboma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12553", "question": "What is associated with Thickened fibular cortex?", "seeds": [ "Thickened fibular cortex" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12554", "question": "What is associated with Enlarged cochlear aqueduct?", "seeds": [ "Enlarged cochlear aqueduct" ], "gold_answer": "Abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12555", "question": "What is associated with Short N2 sleep?", "seeds": [ "Short N2 sleep" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12556", "question": "What phenotype is associated with Young-onset Parkinson disease?", "seeds": [ "Young-onset Parkinson disease" ], "gold_answer": "Postural instability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12557", "question": "What phenotype is associated with Blomstrand lethal chondrodysplasia?", "seeds": [ "Blomstrand lethal chondrodysplasia" ], "gold_answer": "Spontaneous abortion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12558", "question": "What phenotype is associated with Epilepsy, nocturnal frontal lobe, 2?", "seeds": [ "Epilepsy, nocturnal frontal lobe, 2" ], "gold_answer": "Aggressive behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12559", "question": "What is associated with Reduced cell surface marker level?", "seeds": [ "Reduced cell surface marker level" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12560", "question": "What is associated with 46,XY sex reversal 10?", "seeds": [ "46,XY sex reversal 10" ], "gold_answer": "Aplasia/Hypoplasia of the testes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12561", "question": "What phenotype is associated with Meckel syndrome 3?", "seeds": [ "Meckel syndrome 3" ], "gold_answer": "Hepatic fibrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12562", "question": "What phenotype is associated with Vohwinkel syndrome, variant form?", "seeds": [ "Vohwinkel syndrome, variant form" ], "gold_answer": "Hypergranulosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12563", "question": "What is associated with Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome?", "seeds": [ "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12564", "question": "What is associated with Noonan syndrome 7?", "seeds": [ "Noonan syndrome 7" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12565", "question": "What is associated with Reduced tissue thymidine phosphorylase activity?", "seeds": [ "Reduced tissue thymidine phosphorylase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12566", "question": "What is associated with Trident pelvis?", "seeds": [ "Trident pelvis" ], "gold_answer": "Abnormal hip joint morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12567", "question": "What is associated with Splenic lipid-laden macrophage infiltration?", "seeds": [ "Splenic lipid-laden macrophage infiltration" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12568", "question": "What phenotype is associated with Vitreoretinopathy, neovascular inflammatory?", "seeds": [ "Vitreoretinopathy, neovascular inflammatory" ], "gold_answer": "Retinal detachment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12569", "question": "What is associated with Partial duplication of the middle phalanx of the 2nd toe?", "seeds": [ "Partial duplication of the middle phalanx of the 2nd toe" ], "gold_answer": "Duplication of the phalanges of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12570", "question": "What is associated with Mucolipidosis III alpha/beta?", "seeds": [ "Mucolipidosis III alpha/beta" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12571", "question": "What is associated with Isolated sulfite oxidase deficiency?", "seeds": [ "Isolated sulfite oxidase deficiency" ], "gold_answer": "SUOX", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_12572", "question": "What is associated with Alopecia, familial focal?", "seeds": [ "Alopecia, familial focal" ], "gold_answer": "Acquired abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12573", "question": "What is associated with Hemoglobin E-beta-thalassemia major?", "seeds": [ "Hemoglobin E-beta-thalassemia major" ], "gold_answer": "HBB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_12574", "question": "What is associated with Classic glucose transporter type 1 deficiency syndrome?", "seeds": [ "Classic glucose transporter type 1 deficiency syndrome" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12575", "question": "What is associated with Hypomelanosis of Ito?", "seeds": [ "Hypomelanosis of Ito" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12576", "question": "What is associated with Imerslund-Grasbeck syndrome 2?", "seeds": [ "Imerslund-Grasbeck syndrome 2" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12577", "question": "What is associated with Axial malrotation of the kidney?", "seeds": [ "Axial malrotation of the kidney" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12578", "question": "What is associated with Depression?", "seeds": [ "Depression" ], "gold_answer": "Abnormal emotional state", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12579", "question": "What is associated with Rhomboid or triangular shaped 5th finger proximal phalanx?", "seeds": [ "Rhomboid or triangular shaped 5th finger proximal phalanx" ], "gold_answer": "Abnormality of the proximal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12580", "question": "What is associated with Scholte syndrome?", "seeds": [ "Scholte syndrome" ], "gold_answer": "Abnormal penis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12581", "question": "What is associated with Short phalanx of the 5th toe?", "seeds": [ "Short phalanx of the 5th toe" ], "gold_answer": "Aplasia/Hypoplasia of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12582", "question": "What is associated with Isolated hemihyperplasia?", "seeds": [ "Isolated hemihyperplasia" ], "gold_answer": "Hematuria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12583", "question": "What is associated with Osteootohepatoenteric syndrome?", "seeds": [ "Osteootohepatoenteric syndrome" ], "gold_answer": "Abnormal small intestinal mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12584", "question": "What is associated with Erythroleukemia, familial, susceptibility to?", "seeds": [ "Erythroleukemia, familial, susceptibility to" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12585", "question": "What is associated with Ectopic ureteral orifice?", "seeds": [ "Ectopic ureteral orifice" ], "gold_answer": "Abnormal ureter morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12586", "question": "What is associated with Flattened metatarsal heads?", "seeds": [ "Flattened metatarsal heads" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12587", "question": "What is associated with Proteinuria?", "seeds": [ "Proteinuria" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12588", "question": "What is associated with Focal aware head nodding automatism seizure?", "seeds": [ "Focal aware head nodding automatism seizure" ], "gold_answer": "Focal aware seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12589", "question": "What is associated with Angulated humerus?", "seeds": [ "Angulated humerus" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12590", "question": "What is associated with Infantile spasms-broad thumbs syndrome?", "seeds": [ "Infantile spasms-broad thumbs syndrome" ], "gold_answer": "Atrophy/Degeneration affecting the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12591", "question": "What is associated with Abnormal Descemet membrane morphology?", "seeds": [ "Abnormal Descemet membrane morphology" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12592", "question": "What phenotype is associated with Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant?", "seeds": [ "Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" ], "gold_answer": "Sparse hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12593", "question": "What is associated with Elevated circulating C5 acylcarnitine concentration?", "seeds": [ "Elevated circulating C5 acylcarnitine concentration" ], "gold_answer": "Abnormal circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12594", "question": "What is associated with Duplication of the middle phalanx of the 5th finger?", "seeds": [ "Duplication of the middle phalanx of the 5th finger" ], "gold_answer": "Abnormal 5th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12595", "question": "What is associated with Absent pigmentation of chest?", "seeds": [ "Absent pigmentation of chest" ], "gold_answer": "Hypopigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12596", "question": "What is associated with Discoid adrenal gland?", "seeds": [ "Discoid adrenal gland" ], "gold_answer": "Abnormality of the adrenal glands", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12597", "question": "What is associated with Uterine neoplasm?", "seeds": [ "Uterine neoplasm" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12598", "question": "What is associated with Anti-Powassan virus antibody positivity?", "seeds": [ "Anti-Powassan virus antibody positivity" ], "gold_answer": "Bloodstream virus-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12599", "question": "What is associated with Wide capital femoral epiphyses?", "seeds": [ "Wide capital femoral epiphyses" ], "gold_answer": "Abnormal femoral epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12600", "question": "What phenotype is associated with Patent ductus arteriosus 3?", "seeds": [ "Patent ductus arteriosus 3" ], "gold_answer": "Patent ductus arteriosus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12601", "question": "What phenotype is associated with Ectodermal dysplasia 13, Hair/tooth type?", "seeds": [ "Ectodermal dysplasia 13, Hair/tooth type" ], "gold_answer": "Low anterior hairline", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12602", "question": "What is associated with Autism?", "seeds": [ "Autism" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12603", "question": "What is associated with Rapid-onset dystonia-parkinsonism?", "seeds": [ "Rapid-onset dystonia-parkinsonism" ], "gold_answer": "Abnormal emotional state", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12604", "question": "What is associated with Microphthalmia, isolated 8?", "seeds": [ "Microphthalmia, isolated 8" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12605", "question": "What is associated with Osteosclerosis - ichthyosis - premature ovarian failure?", "seeds": [ "Osteosclerosis - ichthyosis - premature ovarian failure" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12606", "question": "What phenotype is associated with Rhabdoid tumor predisposition syndrome 1?", "seeds": [ "Rhabdoid tumor predisposition syndrome 1" ], "gold_answer": "Vertigo", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12607", "question": "What is associated with Recurrent cutaneous abscess formation?", "seeds": [ "Recurrent cutaneous abscess formation" ], "gold_answer": "Abnormal immune system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12608", "question": "What is associated with Spinocerebellar ataxia 41?", "seeds": [ "Spinocerebellar ataxia 41" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12609", "question": "What phenotype is associated with Retinoblastoma?", "seeds": [ "Retinoblastoma" ], "gold_answer": "Progressive visual field defects", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12610", "question": "What phenotype is associated with Microcephaly, short stature, and impaired glucose metabolism 2?", "seeds": [ "Microcephaly, short stature, and impaired glucose metabolism 2" ], "gold_answer": "Epicanthus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12611", "question": "What is associated with Chiari type II malformation?", "seeds": [ "Chiari type II malformation" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12612", "question": "What is associated with Bracket epiphysis of the distal phalanx of the hallux?", "seeds": [ "Bracket epiphysis of the distal phalanx of the hallux" ], "gold_answer": "Bracket epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12613", "question": "What is associated with Predominantly dermal neutrophilic infiltrate?", "seeds": [ "Predominantly dermal neutrophilic infiltrate" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12614", "question": "What is associated with Aplasia/Hypoplasia of the iris?", "seeds": [ "Aplasia/Hypoplasia of the iris" ], "gold_answer": "Aplasia/Hypoplasia affecting the anterior segment of the eye", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12615", "question": "What phenotype is associated with Microscopic polyangiitis?", "seeds": [ "Microscopic polyangiitis" ], "gold_answer": "Ground-glass opacification on pulmonary HRCT", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12616", "question": "What is associated with Megaloblastic bone marrow?", "seeds": [ "Megaloblastic bone marrow" ], "gold_answer": "Abnormal bone marrow cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12617", "question": "What is associated with Vitamin B3 deficiency?", "seeds": [ "Vitamin B3 deficiency" ], "gold_answer": "Abnormality of vitamin metabolism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12618", "question": "What phenotype is associated with Melanoma, cutaneous malignant?", "seeds": [ "Melanoma, cutaneous malignant" ], "gold_answer": "Numerous nevi", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12619", "question": "What is associated with Immunodeficiency 59 and hypoglycemia?", "seeds": [ "Immunodeficiency 59 and hypoglycemia" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the skull", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12620", "question": "What is associated with Delayed recoil upon stretching of skin?", "seeds": [ "Delayed recoil upon stretching of skin" ], "gold_answer": "Abnormally lax or hyperextensible skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12621", "question": "What is associated with Anterior chamber cyst?", "seeds": [ "Anterior chamber cyst" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12622", "question": "What is associated with Urocanic aciduria?", "seeds": [ "Urocanic aciduria" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12623", "question": "What phenotype is associated with Mitochondrial complex I deficiency, nuclear type 7?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 7" ], "gold_answer": "Hypertrophic cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12624", "question": "What is associated with Complete duplication of the middle phalanges of the hand?", "seeds": [ "Complete duplication of the middle phalanges of the hand" ], "gold_answer": "Abnormal middle phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12625", "question": "What is associated with Focal non-convulsive status epilepticus with impairment of consciousness?", "seeds": [ "Focal non-convulsive status epilepticus with impairment of consciousness" ], "gold_answer": "Non-convulsive status epilepticus without coma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12626", "question": "What is associated with Narrow foramen obturatorium?", "seeds": [ "Narrow foramen obturatorium" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12627", "question": "What is associated with Parathyroid adenoma?", "seeds": [ "Parathyroid adenoma" ], "gold_answer": "Neoplasm of the parathyroid gland", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12628", "question": "What is associated with Salt and pepper developmental regression syndrome?", "seeds": [ "Salt and pepper developmental regression syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12629", "question": "What is associated with Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome?", "seeds": [ "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" ], "gold_answer": "Limited elbow movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12630", "question": "What phenotype is associated with Adult idiopathic neutropenia?", "seeds": [ "Adult idiopathic neutropenia" ], "gold_answer": "Helicobacter pylori infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12631", "question": "What is associated with Complete duplication of thumb phalanx?", "seeds": [ "Complete duplication of thumb phalanx" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12632", "question": "What is associated with Congenital neuroblastoma?", "seeds": [ "Congenital neuroblastoma" ], "gold_answer": "Neuroblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12633", "question": "What is associated with Irregular epiphyses of the 5th toe?", "seeds": [ "Irregular epiphyses of the 5th toe" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12634", "question": "What phenotype is associated with Progressive external ophthalmoplegia-myopathy-emaciation syndrome?", "seeds": [ "Progressive external ophthalmoplegia-myopathy-emaciation syndrome" ], "gold_answer": "Kyphosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12635", "question": "What is associated with Ventricular tachycardia, familial?", "seeds": [ "Ventricular tachycardia, familial" ], "gold_answer": "Sudden death", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12636", "question": "What is associated with CD19 expression?", "seeds": [ "CD19 expression" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12637", "question": "What phenotype is associated with Diamond-Blackfan anemia 5?", "seeds": [ "Diamond-Blackfan anemia 5" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12638", "question": "What is associated with Hydroureter?", "seeds": [ "Hydroureter" ], "gold_answer": "Abnormality of the ureter", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12639", "question": "What is associated with Decreased circulating acid maltase activity?", "seeds": [ "Decreased circulating acid maltase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12640", "question": "What is associated with Hypoammonemia?", "seeds": [ "Hypoammonemia" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12641", "question": "What phenotype is associated with Lowry-MacLean syndrome?", "seeds": [ "Lowry-MacLean syndrome" ], "gold_answer": "Stroke", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12642", "question": "What is associated with Dalen-Fuchs nodules?", "seeds": [ "Dalen-Fuchs nodules" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12643", "question": "What is associated with Fractured lower limb segment?", "seeds": [ "Fractured lower limb segment" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12644", "question": "What is associated with PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome?", "seeds": [ "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome" ], "gold_answer": "NDP", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_12645", "question": "What phenotype is associated with Gaucher disease type 3?", "seeds": [ "Gaucher disease type 3" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12646", "question": "What is associated with High myopia?", "seeds": [ "High myopia" ], "gold_answer": "Myopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12647", "question": "What phenotype is associated with Collagenoma, familial cutaneous?", "seeds": [ "Collagenoma, familial cutaneous" ], "gold_answer": "Collagenoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12648", "question": "What is associated with Reduced brain N-acetyl aspartate level by MRS?", "seeds": [ "Reduced brain N-acetyl aspartate level by MRS" ], "gold_answer": "Abnormal brain N-acetyl aspartate level by MRS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12649", "question": "What is associated with Brachymorphism-onychodysplasia-dysphalangism syndrome?", "seeds": [ "Brachymorphism-onychodysplasia-dysphalangism syndrome" ], "gold_answer": "Absent toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12650", "question": "What is associated with Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test?", "seeds": [ "Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12651", "question": "What is associated with Periodontal Ehlers-Danlos syndrome?", "seeds": [ "Periodontal Ehlers-Danlos syndrome" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12652", "question": "What is associated with Systemic mastocytosis with associated hematologic neoplasm?", "seeds": [ "Systemic mastocytosis with associated hematologic neoplasm" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12653", "question": "What is associated with Gaisböck syndrome?", "seeds": [ "Gaisböck syndrome" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12654", "question": "What is associated with Varicocele?", "seeds": [ "Varicocele" ], "gold_answer": "Abnormal scrotum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12655", "question": "What is associated with Brain imaging abnormality?", "seeds": [ "Brain imaging abnormality" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12656", "question": "What is associated with Anti-endomysial antibody positivity?", "seeds": [ "Anti-endomysial antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12657", "question": "What is associated with Tubulinopathy-associated dysgyria?", "seeds": [ "Tubulinopathy-associated dysgyria" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12658", "question": "What is associated with Diamond-Blackfan anemia 20?", "seeds": [ "Diamond-Blackfan anemia 20" ], "gold_answer": "Abnormal number of erythroid precursors", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12659", "question": "What phenotype is associated with Methylmalonic acidemia with homocystinuria?", "seeds": [ "Methylmalonic acidemia with homocystinuria" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12660", "question": "What is associated with Hypoalphalipoproteinemia, primary, 2?", "seeds": [ "Hypoalphalipoproteinemia, primary, 2" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12661", "question": "What is associated with Ameliorated by pregnancy?", "seeds": [ "Ameliorated by pregnancy" ], "gold_answer": "Ameliorated by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12662", "question": "What is associated with Ring chromosome 8 syndrome?", "seeds": [ "Ring chromosome 8 syndrome" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12663", "question": "What is associated with Anomalous insertion of papillary muscle directly into anterior mitral leaflet?", "seeds": [ "Anomalous insertion of papillary muscle directly into anterior mitral leaflet" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12664", "question": "What phenotype is associated with Basal laminar drusen?", "seeds": [ "Basal laminar drusen" ], "gold_answer": "Progressive visual loss", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12665", "question": "What is associated with Absent right sided atrioventricular connection?", "seeds": [ "Absent right sided atrioventricular connection" ], "gold_answer": "Abnormal atrioventricular connection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12666", "question": "What is associated with Gracile bone dysplasia?", "seeds": [ "Gracile bone dysplasia" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12667", "question": "What is associated with Antenatal intracerebral hemorrhage?", "seeds": [ "Antenatal intracerebral hemorrhage" ], "gold_answer": "Cerebral hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12668", "question": "What is associated with 46, XY sex reversal 11?", "seeds": [ "46, XY sex reversal 11" ], "gold_answer": "Increased circulating gonadotropin level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12669", "question": "What is associated with Lethal congenital contracture syndrome 1?", "seeds": [ "Lethal congenital contracture syndrome 1" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the skull", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12670", "question": "What is associated with Epidermolysis bullosa acquisita?", "seeds": [ "Epidermolysis bullosa acquisita" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12671", "question": "What is associated with Neonatal electro-clinical non-motor seizure?", "seeds": [ "Neonatal electro-clinical non-motor seizure" ], "gold_answer": "Neonatal seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12672", "question": "What is associated with Positive enterovirus urine nucleic acid test?", "seeds": [ "Positive enterovirus urine nucleic acid test" ], "gold_answer": "Positive urine infectious agent nucleic acid test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12673", "question": "What is associated with Elevated aromatase activity?", "seeds": [ "Elevated aromatase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12674", "question": "What is associated with Overhanging nasal tip?", "seeds": [ "Overhanging nasal tip" ], "gold_answer": "Abnormal nasal tip morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12675", "question": "What is associated with Cystic medial necrosis?", "seeds": [ "Cystic medial necrosis" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12676", "question": "What is associated with LENTIGINES?", "seeds": [ "LENTIGINES" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12677", "question": "What is associated with Limited elbow extension and supination?", "seeds": [ "Limited elbow extension and supination" ], "gold_answer": "Limited elbow extension", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12678", "question": "What is associated with Hyperlysinemia?", "seeds": [ "Hyperlysinemia" ], "gold_answer": "Azotemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12679", "question": "What is associated with Stüve-Wiedemann syndrome?", "seeds": [ "Stüve-Wiedemann syndrome" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12680", "question": "What is associated with Leg muscle stiffness?", "seeds": [ "Leg muscle stiffness" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12681", "question": "What is associated with Abnormal interlobular vein intima/media morphology?", "seeds": [ "Abnormal interlobular vein intima/media morphology" ], "gold_answer": "Abnormal intrarenal vein morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12682", "question": "What phenotype is associated with Congenital glaucoma?", "seeds": [ "Congenital glaucoma" ], "gold_answer": "Reduced anterior scleral thickness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12683", "question": "What is associated with Auriculitis?", "seeds": [ "Auriculitis" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12684", "question": "What is associated with Congenital curved nail of fourth toe?", "seeds": [ "Congenital curved nail of fourth toe" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12685", "question": "What is associated with Esophageal squamous papilloma?", "seeds": [ "Esophageal squamous papilloma" ], "gold_answer": "Esophageal neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12686", "question": "What is associated with Placenta increta?", "seeds": [ "Placenta increta" ], "gold_answer": "Abnormal placenta morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12687", "question": "What is associated with Anti-thyroglobulin antibody positivity?", "seeds": [ "Anti-thyroglobulin antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12688", "question": "What is associated with Susceptibility to infection due to TYK2 deficiency?", "seeds": [ "Susceptibility to infection due to TYK2 deficiency" ], "gold_answer": "TYK2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_12689", "question": "What is associated with Hypoplastic fetal nasal bone?", "seeds": [ "Hypoplastic fetal nasal bone" ], "gold_answer": "Abnormal fetal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12690", "question": "What phenotype is associated with Hydrocephaly-tall stature-joint laxity syndrome?", "seeds": [ "Hydrocephaly-tall stature-joint laxity syndrome" ], "gold_answer": "Disproportionate tall stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12691", "question": "What is associated with Short metacarpal?", "seeds": [ "Short metacarpal" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12692", "question": "What is associated with Elevated circulating tenascin-C concentration?", "seeds": [ "Elevated circulating tenascin-C concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12693", "question": "What is associated with Meromelia?", "seeds": [ "Meromelia" ], "gold_answer": "Limb undergrowth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12694", "question": "What is associated with Frontometaphyseal dysplasia 2?", "seeds": [ "Frontometaphyseal dysplasia 2" ], "gold_answer": "Abnormality of the pylorus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12695", "question": "What is associated with Hyperkeratosis?", "seeds": [ "Hyperkeratosis" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12696", "question": "What is associated with Upper extremity akinesia?", "seeds": [ "Upper extremity akinesia" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12697", "question": "What is associated with Arachnoid granulation?", "seeds": [ "Arachnoid granulation" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12698", "question": "What is associated with Congenital pyloric atresia?", "seeds": [ "Congenital pyloric atresia" ], "gold_answer": "Abnormality of the pylorus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12699", "question": "What is associated with Essential fructosuria?", "seeds": [ "Essential fructosuria" ], "gold_answer": "Abnormal glucose homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12700", "question": "What phenotype is associated with PLAA-associated neurodevelopmental disorder?", "seeds": [ "PLAA-associated neurodevelopmental disorder" ], "gold_answer": "Bulbar palsy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12701", "question": "What phenotype is associated with Noonan syndrome 12?", "seeds": [ "Noonan syndrome 12" ], "gold_answer": "Dolichocephaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12702", "question": "What is associated with Oral mucosal blisters?", "seeds": [ "Oral mucosal blisters" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12703", "question": "What phenotype is associated with Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome?", "seeds": [ "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome" ], "gold_answer": "Short femur", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12704", "question": "What is associated with Conjunctival icterus?", "seeds": [ "Conjunctival icterus" ], "gold_answer": "Abnormal conjunctiva morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12705", "question": "What phenotype is associated with MALT lymphoma?", "seeds": [ "MALT lymphoma" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12706", "question": "What phenotype is associated with Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia?", "seeds": [ "Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia" ], "gold_answer": "Everted lower lip vermilion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12707", "question": "What is associated with Left ventricular rupture?", "seeds": [ "Left ventricular rupture" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12708", "question": "What is associated with Absent left main coronary artery?", "seeds": [ "Absent left main coronary artery" ], "gold_answer": "Abnormal coronary artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12709", "question": "What is associated with Abnormality of the dentition?", "seeds": [ "Abnormality of the dentition" ], "gold_answer": "Abnormality of the mouth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12710", "question": "What is associated with Intercrural pterygium?", "seeds": [ "Intercrural pterygium" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12711", "question": "What is associated with Transient bullous dermolysis of the newborn?", "seeds": [ "Transient bullous dermolysis of the newborn" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12712", "question": "What is associated with 1-3 toe syndactyly?", "seeds": [ "1-3 toe syndactyly" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12713", "question": "What is associated with Abnormal sweat gland morphology?", "seeds": [ "Abnormal sweat gland morphology" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12714", "question": "What phenotype is associated with Combined deficiency of factor V and factor VIII type 2?", "seeds": [ "Combined deficiency of factor V and factor VIII type 2" ], "gold_answer": "Reduced coagulation factor V activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12715", "question": "What is associated with Oculopharyngodistal myopathy?", "seeds": [ "Oculopharyngodistal myopathy" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12716", "question": "What is associated with Decreased immunoglobulin level in body fluid?", "seeds": [ "Decreased immunoglobulin level in body fluid" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12717", "question": "What is associated with Lipodystrophy, familial partial, type 3?", "seeds": [ "Lipodystrophy, familial partial, type 3" ], "gold_answer": "Storage in hepatocytes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12718", "question": "What is associated with Curved proximal phalanx of the 5th finger?", "seeds": [ "Curved proximal phalanx of the 5th finger" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12719", "question": "What is associated with Anonychia?", "seeds": [ "Anonychia" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12720", "question": "What is associated with Symmetrical progressive peripheral demyelination?", "seeds": [ "Symmetrical progressive peripheral demyelination" ], "gold_answer": "Abnormal peripheral myelination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12721", "question": "What is associated with Spermatogenic failure 75?", "seeds": [ "Spermatogenic failure 75" ], "gold_answer": "Abnormal spermatogenesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12722", "question": "What is associated with Abnormality of the proximal phalanx of the 3rd finger?", "seeds": [ "Abnormality of the proximal phalanx of the 3rd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12723", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 30, atrial?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 30, atrial" ], "gold_answer": "Abnormal left ventricular function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12724", "question": "What is associated with Duplication of phalanx of the 4th toe?", "seeds": [ "Duplication of phalanx of the 4th toe" ], "gold_answer": "Abnormal fourth toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12725", "question": "What is associated with RIN2 syndrome?", "seeds": [ "RIN2 syndrome" ], "gold_answer": "Abnormality of the gingiva", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12726", "question": "What is associated with Abnormal cutaneous elastic fiber morphology?", "seeds": [ "Abnormal cutaneous elastic fiber morphology" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12727", "question": "What is associated with Li-Fraumeni syndrome 2?", "seeds": [ "Li-Fraumeni syndrome 2" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12728", "question": "What is associated with Microcephaly-brachydactyly-kyphoscoliosis syndrome?", "seeds": [ "Microcephaly-brachydactyly-kyphoscoliosis syndrome" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12729", "question": "What phenotype is associated with Torsion dystonia with onset in infancy?", "seeds": [ "Torsion dystonia with onset in infancy" ], "gold_answer": "Torsion dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12730", "question": "What phenotype is associated with Alar cartilages hypoplasia-coloboma-telecanthus syndrome?", "seeds": [ "Alar cartilages hypoplasia-coloboma-telecanthus syndrome" ], "gold_answer": "Cleft ala nasi", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12731", "question": "What phenotype is associated with Oslam syndrome?", "seeds": [ "Oslam syndrome" ], "gold_answer": "Increased circulating lactate dehydrogenase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12732", "question": "What is associated with Anti-retroviral therapy exposure?", "seeds": [ "Anti-retroviral therapy exposure" ], "gold_answer": "Medication history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12733", "question": "What phenotype is associated with Congenital disorder of glycosylation, type It?", "seeds": [ "Congenital disorder of glycosylation, type It" ], "gold_answer": "Elevated circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12734", "question": "What is associated with Microphthalmia, syndromic 3?", "seeds": [ "Microphthalmia, syndromic 3" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12735", "question": "What is associated with First dorsal interossei muscle atrophy?", "seeds": [ "First dorsal interossei muscle atrophy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12736", "question": "What is associated with Fibular aplasia-complex brachydactyly syndrome?", "seeds": [ "Fibular aplasia-complex brachydactyly syndrome" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12737", "question": "What is associated with Cervical spinal canal stenosis?", "seeds": [ "Cervical spinal canal stenosis" ], "gold_answer": "Spinal canal stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12738", "question": "What is associated with Nodular changes affecting the eyelids?", "seeds": [ "Nodular changes affecting the eyelids" ], "gold_answer": "Skin nodule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12739", "question": "What is associated with History of compressive dressings?", "seeds": [ "History of compressive dressings" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12740", "question": "What is associated with Craniofacial cleft?", "seeds": [ "Craniofacial cleft" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12741", "question": "What is associated with Falciform retinal fold?", "seeds": [ "Falciform retinal fold" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12742", "question": "What is associated with Abnormal circulating calcitonin concentration?", "seeds": [ "Abnormal circulating calcitonin concentration" ], "gold_answer": "Abnormal circulating calcium-phosphate regulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12743", "question": "What is associated with Parkinson disease, juvenile, type 2?", "seeds": [ "Parkinson disease, juvenile, type 2" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12744", "question": "What is associated with Hyperekplexia 4?", "seeds": [ "Hyperekplexia 4" ], "gold_answer": "Hernia of the abdominal wall", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12745", "question": "What is associated with Bullet-shaped proximal phalanx of the hallux?", "seeds": [ "Bullet-shaped proximal phalanx of the hallux" ], "gold_answer": "Bullet-shaped toe phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12746", "question": "What is associated with Ultra-low vision?", "seeds": [ "Ultra-low vision" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12747", "question": "What is associated with Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts?", "seeds": [ "Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12748", "question": "What is associated with Adrenal cortical sclerosis?", "seeds": [ "Adrenal cortical sclerosis" ], "gold_answer": "Abnormal adrenal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12749", "question": "What is associated with Abnormal embryonic development?", "seeds": [ "Abnormal embryonic development" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12750", "question": "What phenotype is associated with Macrodactyly of fingers?", "seeds": [ "Macrodactyly of fingers" ], "gold_answer": "Finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12751", "question": "What is associated with Lipoatrophy?", "seeds": [ "Lipoatrophy" ], "gold_answer": "Lipodystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12752", "question": "What is associated with Fractured epiphysis of second metacarpal bone?", "seeds": [ "Fractured epiphysis of second metacarpal bone" ], "gold_answer": "Abnormal 2nd metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12753", "question": "What is associated with Reduced responsiveness to social cues?", "seeds": [ "Reduced responsiveness to social cues" ], "gold_answer": "Reduced social responsiveness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12754", "question": "What is associated with Slender proximal phalanx of finger?", "seeds": [ "Slender proximal phalanx of finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12755", "question": "What is associated with Mitral valve prolapse?", "seeds": [ "Mitral valve prolapse" ], "gold_answer": "Abnormal atrioventricular valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12756", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 21?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 21" ], "gold_answer": "Barrett esophagus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12757", "question": "What is associated with Deafness, autosomal recessive 17?", "seeds": [ "Deafness, autosomal recessive 17" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12758", "question": "What is associated with Nephrotic syndrome, type 1?", "seeds": [ "Nephrotic syndrome, type 1" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12759", "question": "What is associated with Infantile onset?", "seeds": [ "Infantile onset" ], "gold_answer": "Onset", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12760", "question": "What is associated with Conjunctivitis?", "seeds": [ "Conjunctivitis" ], "gold_answer": "Inflammatory abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12761", "question": "What phenotype is associated with Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome?", "seeds": [ "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome" ], "gold_answer": "Azoospermia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12762", "question": "What is associated with Enchondromatosis, multiple?", "seeds": [ "Enchondromatosis, multiple" ], "gold_answer": "Enchondroma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12763", "question": "What phenotype is associated with Mandibulofacial dysostosis with alopecia?", "seeds": [ "Mandibulofacial dysostosis with alopecia" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12764", "question": "What is associated with Classic mycosis fungoides?", "seeds": [ "Classic mycosis fungoides" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12765", "question": "What is associated with Moyamoya disease 2, susceptibility to?", "seeds": [ "Moyamoya disease 2, susceptibility to" ], "gold_answer": "Tissue ischemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12766", "question": "What is associated with Small intestinal perforation?", "seeds": [ "Small intestinal perforation" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12767", "question": "What is associated with Deafness, autosomal dominant 88?", "seeds": [ "Deafness, autosomal dominant 88" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12768", "question": "What is associated with Bidirectional shunt?", "seeds": [ "Bidirectional shunt" ], "gold_answer": "Cardiac shunt", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12769", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 77?", "seeds": [ "Epileptic encephalopathy, early infantile, 77" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12770", "question": "What is associated with Small hand?", "seeds": [ "Small hand" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12771", "question": "What is associated with Glomerular basement membranes powdery deposit?", "seeds": [ "Glomerular basement membranes powdery deposit" ], "gold_answer": "Abnormal glomerular basement membrane texture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12772", "question": "What is associated with Lateral rectus muscle weakness?", "seeds": [ "Lateral rectus muscle weakness" ], "gold_answer": "Abnormal lateral rectus muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12773", "question": "What is associated with Abnormal CSF histidine concentration?", "seeds": [ "Abnormal CSF histidine concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12774", "question": "What is associated with Hydrolethalus syndrome 2?", "seeds": [ "Hydrolethalus syndrome 2" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12775", "question": "What is associated with Generalized glucocorticoid resistance syndrome?", "seeds": [ "Generalized glucocorticoid resistance syndrome" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12776", "question": "What is associated with Autosomal dominant hypocalcemia?", "seeds": [ "Autosomal dominant hypocalcemia" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12777", "question": "What is associated with Elevated imprint of the transverse sinuses?", "seeds": [ "Elevated imprint of the transverse sinuses" ], "gold_answer": "Abnormal skull base morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12778", "question": "What is associated with Abnormal distal femoral metaphysis morphology?", "seeds": [ "Abnormal distal femoral metaphysis morphology" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12779", "question": "What is associated with Cleft larynx, posteriorstridor, congenital, included?", "seeds": [ "Cleft larynx, posteriorstridor, congenital, included" ], "gold_answer": "Abnormal larynx physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12780", "question": "What is associated with Abnormal circulating thromboxane concentration?", "seeds": [ "Abnormal circulating thromboxane concentration" ], "gold_answer": "Abnormal circulating unsaturated fatty acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12781", "question": "What is associated with Ectopic respiratory mucosa?", "seeds": [ "Ectopic respiratory mucosa" ], "gold_answer": "Abnormal forearm morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12782", "question": "What phenotype is associated with Spondylometaphyseal dysplasia, Sedaghatian type?", "seeds": [ "Spondylometaphyseal dysplasia, Sedaghatian type" ], "gold_answer": "Short metacarpal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12783", "question": "What is associated with Severe cytomegalovirus infection?", "seeds": [ "Severe cytomegalovirus infection" ], "gold_answer": "Severe infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12784", "question": "What phenotype is associated with Juvenile xanthogranuloma?", "seeds": [ "Juvenile xanthogranuloma" ], "gold_answer": "Blepharitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12785", "question": "What is associated with Abnormality of jaw muscles?", "seeds": [ "Abnormality of jaw muscles" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12786", "question": "What is associated with Partial duplication of the proximal phalanx of the 2nd finger?", "seeds": [ "Partial duplication of the proximal phalanx of the 2nd finger" ], "gold_answer": "Polydactyly affecting the 2nd finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12787", "question": "What is associated with Abnormal humeral ossification?", "seeds": [ "Abnormal humeral ossification" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12788", "question": "What is associated with Increased circulating A-type natriuretic peptide concentration?", "seeds": [ "Increased circulating A-type natriuretic peptide concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12789", "question": "What is associated with Multinucleation of renal tubular epithelial cells?", "seeds": [ "Multinucleation of renal tubular epithelial cells" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12790", "question": "What is associated with Focal impaired awareness clonic seizure?", "seeds": [ "Focal impaired awareness clonic seizure" ], "gold_answer": "Clonic seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12791", "question": "What is associated with Nephropathy with pretibial epidermolysis bullosa and deafness?", "seeds": [ "Nephropathy with pretibial epidermolysis bullosa and deafness" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12792", "question": "What is associated with Remnants of the hyaloid vascular system?", "seeds": [ "Remnants of the hyaloid vascular system" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12793", "question": "What phenotype is associated with Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome?", "seeds": [ "Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome" ], "gold_answer": "Truncal obesity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12794", "question": "What is associated with Vacuolar myopathy with sarcoplasmic reticulum protein aggregates?", "seeds": [ "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12795", "question": "What is associated with Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis?", "seeds": [ "Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis" ], "gold_answer": "FGFR2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_12796", "question": "What is associated with Beau's lines?", "seeds": [ "Beau's lines" ], "gold_answer": "Abnormal nail surface", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12797", "question": "What is associated with Abnormality of the tarsal bones?", "seeds": [ "Abnormality of the tarsal bones" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12798", "question": "What is associated with Hydrocephaly-low insertion umbilicus syndrome?", "seeds": [ "Hydrocephaly-low insertion umbilicus syndrome" ], "gold_answer": "Deviation of the 5th finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12799", "question": "What phenotype is associated with Short-rib thoracic dysplasia 12?", "seeds": [ "Short-rib thoracic dysplasia 12" ], "gold_answer": "Urethral valve", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12800", "question": "What is associated with Seizure?", "seeds": [ "Seizure" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12801", "question": "What phenotype is associated with Friedreich ataxia, so-called, with optic atrophy and sensorineuraldeafness?", "seeds": [ "Friedreich ataxia, so-called, with optic atrophy and sensorineuraldeafness" ], "gold_answer": "Optic atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12802", "question": "What is associated with Aneurysm, intracranial berry, 12?", "seeds": [ "Aneurysm, intracranial berry, 12" ], "gold_answer": "Vascular dilatation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12803", "question": "What is associated with Blepharocheilodontic syndrome 1?", "seeds": [ "Blepharocheilodontic syndrome 1" ], "gold_answer": "Abnormality of the anus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12804", "question": "What is associated with Split-Hand/foot malformation 3?", "seeds": [ "Split-Hand/foot malformation 3" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12805", "question": "What is associated with Congenital malformation of the great arteries?", "seeds": [ "Congenital malformation of the great arteries" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12806", "question": "What is associated with Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome?", "seeds": [ "Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12807", "question": "What is associated with Astereognosis?", "seeds": [ "Astereognosis" ], "gold_answer": "Tactile agnosia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12808", "question": "What phenotype is associated with Immunodeficiency 59 and hypoglycemia?", "seeds": [ "Immunodeficiency 59 and hypoglycemia" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12809", "question": "What is associated with Glycosylphosphatidylinositol biosynthesis defect 18?", "seeds": [ "Glycosylphosphatidylinositol biosynthesis defect 18" ], "gold_answer": "Decreased fetal movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12810", "question": "What is associated with Midline brain calcifications?", "seeds": [ "Midline brain calcifications" ], "gold_answer": "Cerebral calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12811", "question": "What is associated with Increased urinary potassium?", "seeds": [ "Increased urinary potassium" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12812", "question": "What phenotype is associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome?", "seeds": [ "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome" ], "gold_answer": "Atrial septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12813", "question": "What is associated with Renal tubular epithelial lipofuscin?", "seeds": [ "Renal tubular epithelial lipofuscin" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12814", "question": "What is associated with Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included?", "seeds": [ "Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included" ], "gold_answer": "Hyperostosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12815", "question": "What is associated with Patchy changes of bone mineral density?", "seeds": [ "Patchy changes of bone mineral density" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12816", "question": "What is associated with Pulmonary atresia with intact ventricular septum?", "seeds": [ "Pulmonary atresia with intact ventricular septum" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12817", "question": "What is associated with Podocyte microvillous transformation?", "seeds": [ "Podocyte microvillous transformation" ], "gold_answer": "Abnormal Bowman capsule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12818", "question": "What is associated with Plantar pain?", "seeds": [ "Plantar pain" ], "gold_answer": "Lower limb pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12819", "question": "What is associated with Abnormal circulating cholesterol concentration?", "seeds": [ "Abnormal circulating cholesterol concentration" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12820", "question": "What is associated with Bracket epiphysis of the distal phalanx of the 4th toe?", "seeds": [ "Bracket epiphysis of the distal phalanx of the 4th toe" ], "gold_answer": "Bracket epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12821", "question": "What is associated with Deep S wave in lead V5?", "seeds": [ "Deep S wave in lead V5" ], "gold_answer": "Abnormal ST segment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12822", "question": "What is associated with Juvenile cataract-microcornea-renal glucosuria syndrome?", "seeds": [ "Juvenile cataract-microcornea-renal glucosuria syndrome" ], "gold_answer": "SLC16A12", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_12823", "question": "What is associated with Retinal hole?", "seeds": [ "Retinal hole" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12824", "question": "What is associated with Anti-phosphatidyl choline antibody positivity?", "seeds": [ "Anti-phosphatidyl choline antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12825", "question": "What is associated with Glomerular capillary wire loop deposits?", "seeds": [ "Glomerular capillary wire loop deposits" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12826", "question": "What is associated with Increased HDL2a concentration?", "seeds": [ "Increased HDL2a concentration" ], "gold_answer": "Abnormal HDL subfraction concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12827", "question": "What phenotype is associated with Brooke-Spiegler syndrome?", "seeds": [ "Brooke-Spiegler syndrome" ], "gold_answer": "Milia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12828", "question": "What is associated with Leber congenital amaurosis, type I?", "seeds": [ "Leber congenital amaurosis, type I" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12829", "question": "What is associated with Pituitary dwarfism?", "seeds": [ "Pituitary dwarfism" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12830", "question": "What is associated with Bracket epiphysis of the distal phalanx of the 4th toe?", "seeds": [ "Bracket epiphysis of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12831", "question": "What is associated with Curved 1st metatarsal?", "seeds": [ "Curved 1st metatarsal" ], "gold_answer": "Abnormal metatarsal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12832", "question": "What is associated with Incyclotropia?", "seeds": [ "Incyclotropia" ], "gold_answer": "Heterotropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12833", "question": "What is associated with Hyperostosis, endosteal?", "seeds": [ "Hyperostosis, endosteal" ], "gold_answer": "Abnormal metatarsal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12834", "question": "What is associated with Brachydactyly?", "seeds": [ "Brachydactyly" ], "gold_answer": "Short digit", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12835", "question": "What is associated with Aerophagia?", "seeds": [ "Aerophagia" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12836", "question": "What is associated with Anti-PKCgamma antibody?", "seeds": [ "Anti-PKCgamma antibody" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12837", "question": "What is associated with Urinary bladder inflammation?", "seeds": [ "Urinary bladder inflammation" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12838", "question": "What is associated with Lennox-Gastaut syndrome?", "seeds": [ "Lennox-Gastaut syndrome" ], "gold_answer": "DNM1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_12839", "question": "What is associated with Absent epiphyses of the 3rd finger?", "seeds": [ "Absent epiphyses of the 3rd finger" ], "gold_answer": "Abnormality of the epiphyses of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12840", "question": "What is associated with Fractured metaphysis of femur?", "seeds": [ "Fractured metaphysis of femur" ], "gold_answer": "Abnormal lower-limb metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12841", "question": "What is associated with Gamma-A-Globulin, defect in assembly of?", "seeds": [ "Gamma-A-Globulin, defect in assembly of" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12842", "question": "What is associated with Lingual dystonia?", "seeds": [ "Lingual dystonia" ], "gold_answer": "Dystonia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12843", "question": "What is associated with Interrupted aortic arch?", "seeds": [ "Interrupted aortic arch" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12844", "question": "What is associated with Spastic ataxia, Charlevoix-Saguenay type?", "seeds": [ "Spastic ataxia, Charlevoix-Saguenay type" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12845", "question": "What is associated with Abnormal hallux phalanx morphology?", "seeds": [ "Abnormal hallux phalanx morphology" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12846", "question": "What is associated with Contact lens wearer?", "seeds": [ "Contact lens wearer" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12847", "question": "What is associated with Prominent palatine ridges?", "seeds": [ "Prominent palatine ridges" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12848", "question": "What phenotype is associated with Combined oxidative phosphorylation deficiency 27?", "seeds": [ "Combined oxidative phosphorylation deficiency 27" ], "gold_answer": "Microvesicular hepatic steatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12849", "question": "What is associated with Lower limb asymmetry?", "seeds": [ "Lower limb asymmetry" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12850", "question": "What is associated with Impaired distal vibration sensation?", "seeds": [ "Impaired distal vibration sensation" ], "gold_answer": "Impaired proprioception", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12851", "question": "What phenotype is associated with Fanconi anemia, complementation group L?", "seeds": [ "Fanconi anemia, complementation group L" ], "gold_answer": "Preauricular pit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12852", "question": "What is associated with Aplasia of the semicircular canal?", "seeds": [ "Aplasia of the semicircular canal" ], "gold_answer": "Abnormal semicircular canal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12853", "question": "What is associated with Prominent palmar flexion creases?", "seeds": [ "Prominent palmar flexion creases" ], "gold_answer": "Abnormal skin morphology of the palm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12854", "question": "What phenotype is associated with Infantile cerebellar-retinal degeneration?", "seeds": [ "Infantile cerebellar-retinal degeneration" ], "gold_answer": "Areflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12855", "question": "What is associated with Abnormality of the curvature of the cornea?", "seeds": [ "Abnormality of the curvature of the cornea" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12856", "question": "What is associated with ANONYCHIA-ECTRODACTYLY?", "seeds": [ "ANONYCHIA-ECTRODACTYLY" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12857", "question": "What is associated with Triggered by allergens?", "seeds": [ "Triggered by allergens" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12858", "question": "What is associated with Delayed ossification of the clavicle?", "seeds": [ "Delayed ossification of the clavicle" ], "gold_answer": "Abnormal clavicle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12859", "question": "What is associated with Aplasia of the distal phalanx of the 5th finger?", "seeds": [ "Aplasia of the distal phalanx of the 5th finger" ], "gold_answer": "Aplasia of distal finger phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12860", "question": "What is associated with Triangular epiphyses of the 5th finger?", "seeds": [ "Triangular epiphyses of the 5th finger" ], "gold_answer": "Triangular epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12861", "question": "What is associated with Silver-Russell syndrome due to a point mutation?", "seeds": [ "Silver-Russell syndrome due to a point mutation" ], "gold_answer": "Abnormal location of ears", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12862", "question": "What phenotype is associated with Cardiomyopathy, dilated, 1GG?", "seeds": [ "Cardiomyopathy, dilated, 1GG" ], "gold_answer": "Congestive heart failure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12863", "question": "What is associated with 20q13.33 microdeletion syndrome?", "seeds": [ "20q13.33 microdeletion syndrome" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12864", "question": "What is associated with Necrotizing myopathy?", "seeds": [ "Necrotizing myopathy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12865", "question": "What phenotype is associated with SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC?", "seeds": [ "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12866", "question": "What is associated with Cephalohematoma?", "seeds": [ "Cephalohematoma" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12867", "question": "What is associated with Abnormal calvaria morphology?", "seeds": [ "Abnormal calvaria morphology" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12868", "question": "What is associated with Dermatosparaxis Ehlers-Danlos syndrome?", "seeds": [ "Dermatosparaxis Ehlers-Danlos syndrome" ], "gold_answer": "Hernia of the abdominal wall", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12869", "question": "What is associated with Hamartomatous polyposis?", "seeds": [ "Hamartomatous polyposis" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12870", "question": "What is associated with Isolated autosomal dominant hypomagnesemia, Glaudemans type?", "seeds": [ "Isolated autosomal dominant hypomagnesemia, Glaudemans type" ], "gold_answer": "KCNA1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_12871", "question": "What is associated with PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA?", "seeds": [ "PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA" ], "gold_answer": "Abnormality of extrapyramidal motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12872", "question": "What phenotype is associated with Omodysplasia 2?", "seeds": [ "Omodysplasia 2" ], "gold_answer": "Posteriorly rotated ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12873", "question": "What is associated with Kikuchi-Fujimoto disease?", "seeds": [ "Kikuchi-Fujimoto disease" ], "gold_answer": "Abnormal salivary gland morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12874", "question": "What is associated with Abnormality of skull size?", "seeds": [ "Abnormality of skull size" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12875", "question": "What is associated with Short upper eyelashes?", "seeds": [ "Short upper eyelashes" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12876", "question": "What is associated with Large pelvis bone?", "seeds": [ "Large pelvis bone" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12877", "question": "What is associated with Penile freckling?", "seeds": [ "Penile freckling" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12878", "question": "What phenotype is associated with Dermatosis papulosa nigra?", "seeds": [ "Dermatosis papulosa nigra" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12879", "question": "What is associated with Focal autonomic seizure with pupillary dilation/constriction?", "seeds": [ "Focal autonomic seizure with pupillary dilation/constriction" ], "gold_answer": "Non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12880", "question": "What phenotype is associated with Listeriosis?", "seeds": [ "Listeriosis" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12881", "question": "What phenotype is associated with Mosaic trisomy 14 syndrome?", "seeds": [ "Mosaic trisomy 14 syndrome" ], "gold_answer": "Microphthalmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12882", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 38?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 38" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12883", "question": "What is associated with Gamma-aminobutyric acid transaminase deficiency?", "seeds": [ "Gamma-aminobutyric acid transaminase deficiency" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12884", "question": "What is associated with Follicular infundibulum tumor?", "seeds": [ "Follicular infundibulum tumor" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12885", "question": "What is associated with Abnormal urine hexanoylglycine concentration?", "seeds": [ "Abnormal urine hexanoylglycine concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12886", "question": "What is associated with Elevated circulating palmitoleylcarnitine concentration?", "seeds": [ "Elevated circulating palmitoleylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12887", "question": "What is associated with Focal neonatal sequential seizure?", "seeds": [ "Focal neonatal sequential seizure" ], "gold_answer": "Neonatal electro-clinical seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12888", "question": "What phenotype is associated with Ichthyosis, congenital, autosomal recessive 6?", "seeds": [ "Ichthyosis, congenital, autosomal recessive 6" ], "gold_answer": "Corneal erosion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12889", "question": "What is associated with Decreased circulating acid maltase activity?", "seeds": [ "Decreased circulating acid maltase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12890", "question": "What is associated with Abnormal ovarian physiology?", "seeds": [ "Abnormal ovarian physiology" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12891", "question": "What is associated with Migraine without aura, susceptibility to, 4?", "seeds": [ "Migraine without aura, susceptibility to, 4" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12892", "question": "What is associated with Short palpebral fissure?", "seeds": [ "Short palpebral fissure" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12893", "question": "What is associated with Myasthenic syndrome, congenital, 5?", "seeds": [ "Myasthenic syndrome, congenital, 5" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12894", "question": "What is associated with Unilateral ulnar hypoplasia?", "seeds": [ "Unilateral ulnar hypoplasia" ], "gold_answer": "Short long bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12895", "question": "What is associated with Low-to-normal blood pressure?", "seeds": [ "Low-to-normal blood pressure" ], "gold_answer": "Hypotension", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12896", "question": "What is associated with Increased circulating inhibin B concentration?", "seeds": [ "Increased circulating inhibin B concentration" ], "gold_answer": "Abnormal circulating inhibin B concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12897", "question": "What is associated with Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included?", "seeds": [ "Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12898", "question": "What is associated with Facial edema?", "seeds": [ "Facial edema" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12899", "question": "What is associated with Abnormal bronchus physiology?", "seeds": [ "Abnormal bronchus physiology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12900", "question": "What is associated with Chromosome 8q22.1 duplication syndrome?", "seeds": [ "Chromosome 8q22.1 duplication syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the thumb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12901", "question": "What is associated with Coronary-pulmonary artery fistula?", "seeds": [ "Coronary-pulmonary artery fistula" ], "gold_answer": "Coronary artery fistula", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12902", "question": "What is associated with Microcephaly 11, primary, autosomal recessive?", "seeds": [ "Microcephaly 11, primary, autosomal recessive" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12903", "question": "What is associated with Maternal uniparental disomy of chromosome X syndrome?", "seeds": [ "Maternal uniparental disomy of chromosome X syndrome" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12904", "question": "What is associated with Type I cryptotia?", "seeds": [ "Type I cryptotia" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12905", "question": "What is associated with Unaided visual acuity 3.0 LogMAR?", "seeds": [ "Unaided visual acuity 3.0 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12906", "question": "What is associated with AV nodal tachycardia?", "seeds": [ "AV nodal tachycardia" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12907", "question": "What is associated with Autoimmune hemolytic anemia?", "seeds": [ "Autoimmune hemolytic anemia" ], "gold_answer": "Hemolytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12908", "question": "What is associated with Obliterative abnormality of the renal glomerulus?", "seeds": [ "Obliterative abnormality of the renal glomerulus" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12909", "question": "What is associated with Decreased circulating vitamin C concentration?", "seeds": [ "Decreased circulating vitamin C concentration" ], "gold_answer": "Abnormal metabolism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12910", "question": "What is associated with Fragmentation of the epiphyses of the 3rd toe?", "seeds": [ "Fragmentation of the epiphyses of the 3rd toe" ], "gold_answer": "Abnormality of the epiphyses of the feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12911", "question": "What is associated with Abnormal experience of reality?", "seeds": [ "Abnormal experience of reality" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12912", "question": "What is associated with Hypoplastic optic chiasm?", "seeds": [ "Hypoplastic optic chiasm" ], "gold_answer": "Abnormal optic chiasm morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12913", "question": "What is associated with Bleeding disorder in hemophilia B carriers?", "seeds": [ "Bleeding disorder in hemophilia B carriers" ], "gold_answer": "F9", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_12914", "question": "What is associated with Placoid macular lesion?", "seeds": [ "Placoid macular lesion" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12915", "question": "What is associated with Morgagni-Stewart-Morel syndrome?", "seeds": [ "Morgagni-Stewart-Morel syndrome" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12916", "question": "What is associated with Diamond-Blackfan anemia 8?", "seeds": [ "Diamond-Blackfan anemia 8" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12917", "question": "What is associated with Mitochondrial DNA depletion syndrome, hepatocerebrorenal form?", "seeds": [ "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form" ], "gold_answer": "TWNK", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_12918", "question": "What is associated with Albinism, oculocutaneous, type V?", "seeds": [ "Albinism, oculocutaneous, type V" ], "gold_answer": "Sensory behavioral abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12919", "question": "What is associated with Proximal upper limb muscle hypertrophy?", "seeds": [ "Proximal upper limb muscle hypertrophy" ], "gold_answer": "Skeletal muscle hypertrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12920", "question": "What is associated with Curved fingers?", "seeds": [ "Curved fingers" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12921", "question": "What is associated with Aplasia of the middle phalanx of the 4th toe?", "seeds": [ "Aplasia of the middle phalanx of the 4th toe" ], "gold_answer": "Aplasia of the phalanges of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12922", "question": "What is associated with Cystathioninemia?", "seeds": [ "Cystathioninemia" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12923", "question": "What is associated with Focal impaired awareness emotional seizure with pleasure?", "seeds": [ "Focal impaired awareness emotional seizure with pleasure" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12924", "question": "What phenotype is associated with Chilblain lupus?", "seeds": [ "Chilblain lupus" ], "gold_answer": "Chorea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12925", "question": "What is associated with Phocomelia?", "seeds": [ "Phocomelia" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12926", "question": "What is associated with Congenital chronic diarrhea with protein-losing enteropathy?", "seeds": [ "Congenital chronic diarrhea with protein-losing enteropathy" ], "gold_answer": "DGAT1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_12927", "question": "What is associated with Interlobular vein intima/media coagulative necrosis?", "seeds": [ "Interlobular vein intima/media coagulative necrosis" ], "gold_answer": "Interlobular vein intima/media necrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12928", "question": "What is associated with Amyotrophic lateral sclerosis and/or frontotemporal dementia 1?", "seeds": [ "Amyotrophic lateral sclerosis and/or frontotemporal dementia 1" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12929", "question": "What is associated with Arginine vasopressin deficiency?", "seeds": [ "Arginine vasopressin deficiency" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12930", "question": "What is associated with Al-Gazali-Bakalinova syndrome?", "seeds": [ "Al-Gazali-Bakalinova syndrome" ], "gold_answer": "Abnormality of mouth shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12931", "question": "What phenotype is associated with Colchicine poisoning?", "seeds": [ "Colchicine poisoning" ], "gold_answer": "Alopecia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12932", "question": "What is associated with Intrauterine digital amputation?", "seeds": [ "Intrauterine digital amputation" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12933", "question": "What is associated with Lichenification?", "seeds": [ "Lichenification" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12934", "question": "What phenotype is associated with Dystonia 6, torsion?", "seeds": [ "Dystonia 6, torsion" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12935", "question": "What is associated with Sleep-wake cycle disturbance?", "seeds": [ "Sleep-wake cycle disturbance" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12936", "question": "What is associated with Reduced circulating insulin-like growth factor 2 concentration?", "seeds": [ "Reduced circulating insulin-like growth factor 2 concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12937", "question": "What is associated with Nodular goiter?", "seeds": [ "Nodular goiter" ], "gold_answer": "Goiter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12938", "question": "What is associated with Aplasia of the falx cerebri?", "seeds": [ "Aplasia of the falx cerebri" ], "gold_answer": "Abnormality of the falx cerebri", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12939", "question": "What is associated with Methylmalonic aciduria and homocystinuria, Cblf type?", "seeds": [ "Methylmalonic aciduria and homocystinuria, Cblf type" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12940", "question": "What is associated with Intellectual developmental disorder, X-linked 88?", "seeds": [ "Intellectual developmental disorder, X-linked 88" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12941", "question": "What phenotype is associated with Congenital nephrotic syndrome, Finnish type?", "seeds": [ "Congenital nephrotic syndrome, Finnish type" ], "gold_answer": "Proteinuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12942", "question": "What is associated with Abnormal timing of light-adapted flicker electroretinogram?", "seeds": [ "Abnormal timing of light-adapted flicker electroretinogram" ], "gold_answer": "Abnormal light-adapted flicker electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12943", "question": "What phenotype is associated with Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination?", "seeds": [ "Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" ], "gold_answer": "Small for gestational age", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12944", "question": "What is associated with Spermatogenic failure 98?", "seeds": [ "Spermatogenic failure 98" ], "gold_answer": "Decreased fertility in males", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12945", "question": "What is associated with Schwannomatosis 2?", "seeds": [ "Schwannomatosis 2" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12946", "question": "What phenotype is associated with Carpal tunnel syndrome 2?", "seeds": [ "Carpal tunnel syndrome 2" ], "gold_answer": "Hand paresthesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12947", "question": "What is associated with Increased caudate lactate level?", "seeds": [ "Increased caudate lactate level" ], "gold_answer": "Abnormal caudate nucleus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12948", "question": "What is associated with Reduced tissue phosphorylase kinase activity?", "seeds": [ "Reduced tissue phosphorylase kinase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12949", "question": "What is associated with Abnormal ureter morphology?", "seeds": [ "Abnormal ureter morphology" ], "gold_answer": "Abnormality of the ureter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12950", "question": "What is associated with Abnormal anus morphology?", "seeds": [ "Abnormal anus morphology" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12951", "question": "What is associated with Episodic ataxia, type 5?", "seeds": [ "Episodic ataxia, type 5" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12952", "question": "What phenotype is associated with Neurodevelopmental disorder with or without autism or seizures?", "seeds": [ "Neurodevelopmental disorder with or without autism or seizures" ], "gold_answer": "Bifid uvula", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12953", "question": "What is associated with Abnormal left ventricular end-diastolic volume?", "seeds": [ "Abnormal left ventricular end-diastolic volume" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12954", "question": "What is associated with Alaninuria?", "seeds": [ "Alaninuria" ], "gold_answer": "Increased proteinogenic amino acid level in urine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12955", "question": "What is associated with Transient aminoaciduria?", "seeds": [ "Transient aminoaciduria" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12956", "question": "What is associated with ENDOVE syndrome, limb-brain type?", "seeds": [ "ENDOVE syndrome, limb-brain type" ], "gold_answer": "Abnormal abdominal wall morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12957", "question": "What is associated with Oral synechia?", "seeds": [ "Oral synechia" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12958", "question": "What phenotype is associated with Spastic paraplegia 79, autosomal recessive?", "seeds": [ "Spastic paraplegia 79, autosomal recessive" ], "gold_answer": "Loss of ambulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12959", "question": "What is associated with Hyperalaninemia?", "seeds": [ "Hyperalaninemia" ], "gold_answer": "Abnormal circulating alanine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12960", "question": "What is associated with Anti-topoisomerase I antibody positivity?", "seeds": [ "Anti-topoisomerase I antibody positivity" ], "gold_answer": "Antinuclear antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12961", "question": "What is associated with VISS syndrome?", "seeds": [ "VISS syndrome" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12962", "question": "What phenotype is associated with Deafness, autosomal dominant 51?", "seeds": [ "Deafness, autosomal dominant 51" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12963", "question": "What is associated with Oculocutaneous albinism type 1B?", "seeds": [ "Oculocutaneous albinism type 1B" ], "gold_answer": "Abnormal iris pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12964", "question": "What phenotype is associated with Micro syndrome?", "seeds": [ "Micro syndrome" ], "gold_answer": "Impaired smooth pursuit", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12965", "question": "What is associated with Unilateral oligodactyly?", "seeds": [ "Unilateral oligodactyly" ], "gold_answer": "Aplasia/hypoplasia involving bones of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12966", "question": "What is associated with Cholestasis, progressive familial intrahepatic, 3?", "seeds": [ "Cholestasis, progressive familial intrahepatic, 3" ], "gold_answer": "Abnormal gamma-glutamyltransferase level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12967", "question": "What is associated with Supraauricular pit?", "seeds": [ "Supraauricular pit" ], "gold_answer": "Periauricular skin pits", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12968", "question": "What is associated with Abnormality of the pulmonary vasculature?", "seeds": [ "Abnormality of the pulmonary vasculature" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12969", "question": "What is associated with Trousseau sign?", "seeds": [ "Trousseau sign" ], "gold_answer": "Muscle spasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12970", "question": "What is associated with Pulsatile liver?", "seeds": [ "Pulsatile liver" ], "gold_answer": "Abnormal hepatobiliary system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12971", "question": "What is associated with EEG with parietal epileptiform discharges?", "seeds": [ "EEG with parietal epileptiform discharges" ], "gold_answer": "EEG with focal epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12972", "question": "What is associated with Increased circulating thyroglobulin concentration?", "seeds": [ "Increased circulating thyroglobulin concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12973", "question": "What is associated with Hutterite cerebroosteonephrodysplasia syndrome?", "seeds": [ "Hutterite cerebroosteonephrodysplasia syndrome" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12974", "question": "What is associated with Increased level of gamma-aminobutyric acid in urine?", "seeds": [ "Increased level of gamma-aminobutyric acid in urine" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12975", "question": "What is associated with Mosaic trisomy 17 syndrome?", "seeds": [ "Mosaic trisomy 17 syndrome" ], "gold_answer": "Abnormal ventricular septum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12976", "question": "What is associated with Atelosteogenesis, type II?", "seeds": [ "Atelosteogenesis, type II" ], "gold_answer": "Abnormal chondrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12977", "question": "What is associated with Objectification of others?", "seeds": [ "Objectification of others" ], "gold_answer": "Abnormal social development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12978", "question": "What is associated with Juvenile posterior subcapsular lenticular opacities?", "seeds": [ "Juvenile posterior subcapsular lenticular opacities" ], "gold_answer": "Posterior subcapsular cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12979", "question": "What is associated with Triangular epiphysis of the proximal phalanx of the 3rd finger?", "seeds": [ "Triangular epiphysis of the proximal phalanx of the 3rd finger" ], "gold_answer": "Triangular epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12980", "question": "What is associated with Abnormality of the nose?", "seeds": [ "Abnormality of the nose" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12981", "question": "What phenotype is associated with Porokeratosis 6, disseminated superficial Actinic type?", "seeds": [ "Porokeratosis 6, disseminated superficial Actinic type" ], "gold_answer": "Porokeratosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12982", "question": "What is associated with MUTYH-related polyposis?", "seeds": [ "MUTYH-related polyposis" ], "gold_answer": "Abnormal rectum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12983", "question": "What is associated with Abnormality on pulmonary function testing?", "seeds": [ "Abnormality on pulmonary function testing" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12984", "question": "What phenotype is associated with Developmental delay with variable intellectual disability and dysmorphic facies?", "seeds": [ "Developmental delay with variable intellectual disability and dysmorphic facies" ], "gold_answer": "Retrognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_12985", "question": "What is associated with Opportunistic viral infection?", "seeds": [ "Opportunistic viral infection" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12986", "question": "What is associated with Bifid distal phalanx of the thumb?", "seeds": [ "Bifid distal phalanx of the thumb" ], "gold_answer": "Duplication of the distal phalanx of the thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12987", "question": "What is associated with Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development?", "seeds": [ "Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12988", "question": "What is associated with Nonaka myopathy?", "seeds": [ "Nonaka myopathy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12989", "question": "What is associated with Tibial spur?", "seeds": [ "Tibial spur" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12990", "question": "What is associated with Abnormal circulating heparan sulfate level?", "seeds": [ "Abnormal circulating heparan sulfate level" ], "gold_answer": "Abnormal circulating carbohydrate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12991", "question": "What is associated with Hypotrichosis 12?", "seeds": [ "Hypotrichosis 12" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12992", "question": "What is associated with Upper limb mesomelic dysplasia, type Fryns?", "seeds": [ "Upper limb mesomelic dysplasia, type Fryns" ], "gold_answer": "Abnormal shape of the radius", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12993", "question": "What is associated with Aplasia/Hypoplasia of the middle phalanges of the hand?", "seeds": [ "Aplasia/Hypoplasia of the middle phalanges of the hand" ], "gold_answer": "Abnormal middle phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_12994", "question": "What is associated with Restrictive behavior?", "seeds": [ "Restrictive behavior" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12995", "question": "What is associated with Deafness, autosomal dominant 2B?", "seeds": [ "Deafness, autosomal dominant 2B" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12996", "question": "What is associated with Slanting of the palpebral fissure?", "seeds": [ "Slanting of the palpebral fissure" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12997", "question": "What is associated with Corneal dystrophy, fuchs endothelial, 6?", "seeds": [ "Corneal dystrophy, fuchs endothelial, 6" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_12998", "question": "What is associated with Abnormal ear physiology?", "seeds": [ "Abnormal ear physiology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_12999", "question": "What is associated with Sanjad-Sakati syndrome?", "seeds": [ "Sanjad-Sakati syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13000", "question": "What is associated with Thumb hypoplasia grade 2?", "seeds": [ "Thumb hypoplasia grade 2" ], "gold_answer": "Short finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13001", "question": "What is associated with Salter I fracture?", "seeds": [ "Salter I fracture" ], "gold_answer": "Physeal fracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13002", "question": "What is associated with Basalioma of the outer ear?", "seeds": [ "Basalioma of the outer ear" ], "gold_answer": "Neoplasm of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13003", "question": "What is associated with Neuropathy, hereditary sensory and autonomic, type V?", "seeds": [ "Neuropathy, hereditary sensory and autonomic, type V" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13004", "question": "What is associated with Tubular microcystic change?", "seeds": [ "Tubular microcystic change" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13005", "question": "What is associated with Dental ankylosis?", "seeds": [ "Dental ankylosis" ], "gold_answer": "Deviation of the 5th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13006", "question": "What is associated with Mediastinal lymphadenopathy?", "seeds": [ "Mediastinal lymphadenopathy" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13007", "question": "What is associated with Anti-carbonic anhydrase VI antibody positivity?", "seeds": [ "Anti-carbonic anhydrase VI antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13008", "question": "What phenotype is associated with Chromosome xp11.3 deletion syndrome?", "seeds": [ "Chromosome xp11.3 deletion syndrome" ], "gold_answer": "Horizontal nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13009", "question": "What is associated with Increased circulating pancreatic triacylglycerol lipase level?", "seeds": [ "Increased circulating pancreatic triacylglycerol lipase level" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13010", "question": "What phenotype is associated with Ankyloblepharon filiforme adnatum and cleft palate?", "seeds": [ "Ankyloblepharon filiforme adnatum and cleft palate" ], "gold_answer": "Cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13011", "question": "What is associated with Short proximal phalanx of hallux?", "seeds": [ "Short proximal phalanx of hallux" ], "gold_answer": "Short phalanx of hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13012", "question": "What is associated with Recurrent patellar dislocation?", "seeds": [ "Recurrent patellar dislocation" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13013", "question": "What is associated with Dystonia 13, torsion?", "seeds": [ "Dystonia 13, torsion" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13014", "question": "What is associated with Premature ejaculation?", "seeds": [ "Premature ejaculation" ], "gold_answer": "Abnormal ejaculation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13015", "question": "What is associated with Patellar subluxation?", "seeds": [ "Patellar subluxation" ], "gold_answer": "Abnormal knee morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13016", "question": "What phenotype is associated with Bornholm eye disease?", "seeds": [ "Bornholm eye disease" ], "gold_answer": "Astigmatism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13017", "question": "What is associated with Pulsatile tinnitus?", "seeds": [ "Pulsatile tinnitus" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13018", "question": "What is associated with Aortic root aneurysm?", "seeds": [ "Aortic root aneurysm" ], "gold_answer": "Thoracic aortic aneurysm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13019", "question": "What is associated with Carotid artery tortuosity?", "seeds": [ "Carotid artery tortuosity" ], "gold_answer": "Arterial tortuosity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13020", "question": "What phenotype is associated with Lymphatic malformation 9?", "seeds": [ "Lymphatic malformation 9" ], "gold_answer": "Tortuous lymphatic vessels", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13021", "question": "What is associated with ENDOCRINE-CEREBROOSTEODYSPLASIA?", "seeds": [ "ENDOCRINE-CEREBROOSTEODYSPLASIA" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13022", "question": "What is associated with Increased circulating interleukin 1beta concentration?", "seeds": [ "Increased circulating interleukin 1beta concentration" ], "gold_answer": "Abnormal circulating cytokine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13023", "question": "What is associated with Rest dyspnea?", "seeds": [ "Rest dyspnea" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13024", "question": "What is associated with Corneal iron line?", "seeds": [ "Corneal iron line" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13025", "question": "What is associated with Patchy sclerosis of the middle phalanx of the 5th finger?", "seeds": [ "Patchy sclerosis of the middle phalanx of the 5th finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13026", "question": "What is associated with Spermatogenic failure 31?", "seeds": [ "Spermatogenic failure 31" ], "gold_answer": "Infertility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13027", "question": "What is associated with Myelodysplastic neoplasm with increased blasts type 1?", "seeds": [ "Myelodysplastic neoplasm with increased blasts type 1" ], "gold_answer": "TET2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_train_13028", "question": "What is associated with Lateral meningocele syndrome?", "seeds": [ "Lateral meningocele syndrome" ], "gold_answer": "Hemiplegia/hemiparesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13029", "question": "What is associated with Aphalangy of the hands?", "seeds": [ "Aphalangy of the hands" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13030", "question": "What is associated with Deafness, autosomal recessive 122?", "seeds": [ "Deafness, autosomal recessive 122" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13031", "question": "What is associated with Prelingual sensorineural hearing impairment?", "seeds": [ "Prelingual sensorineural hearing impairment" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13032", "question": "What is associated with Aplasia/Hypoplasia involving the skeletal musculature?", "seeds": [ "Aplasia/Hypoplasia involving the skeletal musculature" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13033", "question": "What is associated with Nystagmus 4, congenital, autosomal dominant?", "seeds": [ "Nystagmus 4, congenital, autosomal dominant" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13034", "question": "What is associated with Irregular tarsal bones?", "seeds": [ "Irregular tarsal bones" ], "gold_answer": "Abnormality of the tarsal bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13035", "question": "What is associated with Short phalanx of the 5th toe?", "seeds": [ "Short phalanx of the 5th toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13036", "question": "What is associated with Thick growth plates?", "seeds": [ "Thick growth plates" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13037", "question": "What is associated with Dilatation of the tricuspid annulus?", "seeds": [ "Dilatation of the tricuspid annulus" ], "gold_answer": "Abnormal tricuspid valve annulus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13038", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked, syndromic 32?", "seeds": [ "Intellectual developmental disorder, X-linked, syndromic 32" ], "gold_answer": "Absent speech", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13039", "question": "What is associated with Familial isolated café-au-lait macules?", "seeds": [ "Familial isolated café-au-lait macules" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13040", "question": "What is associated with Hypocalcification of dental enamel?", "seeds": [ "Hypocalcification of dental enamel" ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13041", "question": "What is associated with Absent epiphysis of the proximal phalanx of the 3rd finger?", "seeds": [ "Absent epiphysis of the proximal phalanx of the 3rd finger" ], "gold_answer": "Absent epiphyses of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13042", "question": "What is associated with Abnormality of the tarsal bones?", "seeds": [ "Abnormality of the tarsal bones" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13043", "question": "What is associated with Retinitis pigmentosa 77?", "seeds": [ "Retinitis pigmentosa 77" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13044", "question": "What is associated with 1-4 toe syndactyly?", "seeds": [ "1-4 toe syndactyly" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13045", "question": "What is associated with Multifocal seizures?", "seeds": [ "Multifocal seizures" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13046", "question": "What phenotype is associated with Multiple tumor-associated chromosome region 1?", "seeds": [ "Multiple tumor-associated chromosome region 1" ], "gold_answer": "Nephroblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13047", "question": "What phenotype is associated with Amelogenesis imperfecta?", "seeds": [ "Amelogenesis imperfecta" ], "gold_answer": "Taurodontia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13048", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 103?", "seeds": [ "Intellectual developmental disorder, X-linked 103" ], "gold_answer": "Coarse facial features", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13049", "question": "What is associated with Vitamin B12-unresponsive methylmalonic acidemia type mut0?", "seeds": [ "Vitamin B12-unresponsive methylmalonic acidemia type mut0" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13050", "question": "What is associated with Elevated circulating DNAJB9 protein concentration?", "seeds": [ "Elevated circulating DNAJB9 protein concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13051", "question": "What phenotype is associated with Multiple mitochondrial dysfunctions syndrome 10?", "seeds": [ "Multiple mitochondrial dysfunctions syndrome 10" ], "gold_answer": "Barrett esophagus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13052", "question": "What is associated with Increased peripheral myelin thickness?", "seeds": [ "Increased peripheral myelin thickness" ], "gold_answer": "Peripheral hypermyelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13053", "question": "What is associated with Intermittent hydrarthrosis?", "seeds": [ "Intermittent hydrarthrosis" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13054", "question": "What is associated with Congenital disorder of glycosylation, type Il?", "seeds": [ "Congenital disorder of glycosylation, type Il" ], "gold_answer": "Abnormal nasal bridge morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13055", "question": "What is associated with Proximal to distal progression?", "seeds": [ "Proximal to distal progression" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13056", "question": "What is associated with Intermittent hyperventilation?", "seeds": [ "Intermittent hyperventilation" ], "gold_answer": "Hyperventilation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13057", "question": "What is associated with Septic pulmonary embolism?", "seeds": [ "Septic pulmonary embolism" ], "gold_answer": "Thromboembolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13058", "question": "What is associated with Fibrosis of extraocular muscles, congenital, with synergistic divergence?", "seeds": [ "Fibrosis of extraocular muscles, congenital, with synergistic divergence" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13059", "question": "What is associated with Oocyte maturation defect 5?", "seeds": [ "Oocyte maturation defect 5" ], "gold_answer": "Abnormal meiosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13060", "question": "What is associated with Abnormal nasal morphology?", "seeds": [ "Abnormal nasal morphology" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13061", "question": "What is associated with Mesangial fibrillary deposits?", "seeds": [ "Mesangial fibrillary deposits" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13062", "question": "What phenotype is associated with Epilepsy, progressive myoclonic, 4, with or without renal failure?", "seeds": [ "Epilepsy, progressive myoclonic, 4, with or without renal failure" ], "gold_answer": "Proteinuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13063", "question": "What is associated with Primary lateral sclerosis?", "seeds": [ "Primary lateral sclerosis" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13064", "question": "What is associated with Intratubular vancomycin casts?", "seeds": [ "Intratubular vancomycin casts" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13065", "question": "What is associated with Indeterminate ventricular axis?", "seeds": [ "Indeterminate ventricular axis" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13066", "question": "What is associated with Ciliary dyskinesia, primary, 12?", "seeds": [ "Ciliary dyskinesia, primary, 12" ], "gold_answer": "CITED2", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_13067", "question": "What is associated with Moderate receptive language delay?", "seeds": [ "Moderate receptive language delay" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13068", "question": "What phenotype is associated with Retinitis pigmentosa 2, X-linked?", "seeds": [ "Retinitis pigmentosa 2, X-linked" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13069", "question": "What is associated with Chronic hiccup?", "seeds": [ "Chronic hiccup" ], "gold_answer": "Abnormal emotional state", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13070", "question": "What is associated with Aplasia of the fallopian tube?", "seeds": [ "Aplasia of the fallopian tube" ], "gold_answer": "Aplasia/Hypoplasia of the fallopian tube", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13071", "question": "What is associated with Distal radioulnar joint space widening?", "seeds": [ "Distal radioulnar joint space widening" ], "gold_answer": "Abnormal forearm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13072", "question": "What is associated with Lid lag on downgaze?", "seeds": [ "Lid lag on downgaze" ], "gold_answer": "Abnormal ocular adnexa physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13073", "question": "What is associated with Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome?", "seeds": [ "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13074", "question": "What is associated with Multiple mitochondrial dysfunctions syndrome 4?", "seeds": [ "Multiple mitochondrial dysfunctions syndrome 4" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13075", "question": "What is associated with Focal impaired awareness sensory seizure with cephalic sensation?", "seeds": [ "Focal impaired awareness sensory seizure with cephalic sensation" ], "gold_answer": "Focal impaired awareness non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13076", "question": "What is associated with Cervical vertebral bridge?", "seeds": [ "Cervical vertebral bridge" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13077", "question": "What is associated with Medullary thyroid carcinoma?", "seeds": [ "Medullary thyroid carcinoma" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13078", "question": "What is associated with Homocystinuria, B6-responsive and nonresponsive types?", "seeds": [ "Homocystinuria, B6-responsive and nonresponsive types" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13079", "question": "What is associated with Abnormality of the epiphysis of the distal phalanx of the 4th toe?", "seeds": [ "Abnormality of the epiphysis of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13080", "question": "What is associated with Böök syndrome?", "seeds": [ "Böök syndrome" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13081", "question": "What is associated with Straddling atrioventricular valve?", "seeds": [ "Straddling atrioventricular valve" ], "gold_answer": "Abnormal connection of the cardiac segments", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13082", "question": "What is associated with Anti-phospholipase A2 receptor antibody positivity?", "seeds": [ "Anti-phospholipase A2 receptor antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13083", "question": "What phenotype is associated with Hypospadias 1, X-linked?", "seeds": [ "Hypospadias 1, X-linked" ], "gold_answer": "Perineal hypospadias", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13084", "question": "What is associated with Myoclonic epilepsy, juvenile, susceptibility to, 4?", "seeds": [ "Myoclonic epilepsy, juvenile, susceptibility to, 4" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13085", "question": "What is associated with Hypolysinemia?", "seeds": [ "Hypolysinemia" ], "gold_answer": "Abnormal circulating lysine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13086", "question": "What is associated with Anti-HLA-DQ antibody positivity?", "seeds": [ "Anti-HLA-DQ antibody positivity" ], "gold_answer": "Anti-HLA antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13087", "question": "What is associated with Gnathodiaphyseal dysplasia?", "seeds": [ "Gnathodiaphyseal dysplasia" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13088", "question": "What is associated with Chiari type II malformation?", "seeds": [ "Chiari type II malformation" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13089", "question": "What is associated with Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements?", "seeds": [ "Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13090", "question": "What is associated with Umbilical vein varix?", "seeds": [ "Umbilical vein varix" ], "gold_answer": "Abnormality of the umbilical cord", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13091", "question": "What phenotype is associated with Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures?", "seeds": [ "Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures" ], "gold_answer": "Urinary incontinence", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13092", "question": "What is associated with Oral mucosal papule?", "seeds": [ "Oral mucosal papule" ], "gold_answer": "Abnormal cheek morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13093", "question": "What is associated with Palatopharyngeal incompetence?", "seeds": [ "Palatopharyngeal incompetence" ], "gold_answer": "Craniofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13094", "question": "What is associated with Developmental and epileptic encephalopathy 118?", "seeds": [ "Developmental and epileptic encephalopathy 118" ], "gold_answer": "Abnormal saccadic eye movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13095", "question": "What is associated with Abnormal circulating asparagine concentration?", "seeds": [ "Abnormal circulating asparagine concentration" ], "gold_answer": "Abnormal circulating aspartate family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13096", "question": "What is associated with Macular degeneration, age-related, 11?", "seeds": [ "Macular degeneration, age-related, 11" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13097", "question": "What is associated with Ring chromosome Y syndrome?", "seeds": [ "Ring chromosome Y syndrome" ], "gold_answer": "Abnormality of the lower urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13098", "question": "What is associated with Abnormality of pattern visual evoked potentials?", "seeds": [ "Abnormality of pattern visual evoked potentials" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13099", "question": "What is associated with Medullary peritubular capillaritis?", "seeds": [ "Medullary peritubular capillaritis" ], "gold_answer": "Abnormal peritubular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13100", "question": "What is associated with Hypomanganesemia?", "seeds": [ "Hypomanganesemia" ], "gold_answer": "Abnormal blood inorganic cation concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13101", "question": "What is associated with Marbach-Schaaf neurodevelopmental syndrome?", "seeds": [ "Marbach-Schaaf neurodevelopmental syndrome" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13102", "question": "What is associated with Familial cerebral saccular aneurysm?", "seeds": [ "Familial cerebral saccular aneurysm" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13103", "question": "What is associated with Abnormal synovial membrane morphology?", "seeds": [ "Abnormal synovial membrane morphology" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13104", "question": "What is associated with Paralytic ileus?", "seeds": [ "Paralytic ileus" ], "gold_answer": "Ileus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13105", "question": "What is associated with Overmodelled hand bones?", "seeds": [ "Overmodelled hand bones" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13106", "question": "What is associated with Abnormal brain lactate level by MRS?", "seeds": [ "Abnormal brain lactate level by MRS" ], "gold_answer": "Abnormal metabolic brain imaging by MRS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13107", "question": "What is associated with Emotional hypersensitivity?", "seeds": [ "Emotional hypersensitivity" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13108", "question": "What is associated with Dark urine?", "seeds": [ "Dark urine" ], "gold_answer": "Abnormal urinary color", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13109", "question": "What is associated with Limited knee flexion/extension?", "seeds": [ "Limited knee flexion/extension" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13110", "question": "What is associated with Elevated erythrocyte adenosine triphosphate concentration?", "seeds": [ "Elevated erythrocyte adenosine triphosphate concentration" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13111", "question": "What is associated with Focal segmental glomerulosclerosis 1?", "seeds": [ "Focal segmental glomerulosclerosis 1" ], "gold_answer": "Abnormal renal echogenicity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13112", "question": "What phenotype is associated with RECON progeroid syndrome?", "seeds": [ "RECON progeroid syndrome" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13113", "question": "What is associated with Primary progressive freezing gait?", "seeds": [ "Primary progressive freezing gait" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13114", "question": "What is associated with Parkinson disease 22, autosomal dominant?", "seeds": [ "Parkinson disease 22, autosomal dominant" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13115", "question": "What phenotype is associated with Protoporphyria, erythropoietic, 2?", "seeds": [ "Protoporphyria, erythropoietic, 2" ], "gold_answer": "Iron deficiency anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13116", "question": "What is associated with Hypotelorism?", "seeds": [ "Hypotelorism" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13117", "question": "What is associated with Macrothrombocytopenia, autosomal dominant, tubb1-related?", "seeds": [ "Macrothrombocytopenia, autosomal dominant, tubb1-related" ], "gold_answer": "Abnormal platelet volume", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13118", "question": "What is associated with T-B+ severe combined immunodeficiency due to gamma chain deficiency?", "seeds": [ "T-B+ severe combined immunodeficiency due to gamma chain deficiency" ], "gold_answer": "Abnormal urine cytology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13119", "question": "What is associated with Autosomal dominant mitochondrial myopathy with exercise intolerance?", "seeds": [ "Autosomal dominant mitochondrial myopathy with exercise intolerance" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13120", "question": "What is associated with Paracentral?", "seeds": [ "Paracentral" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13121", "question": "What is associated with Lymph-node follicular sclerosis?", "seeds": [ "Lymph-node follicular sclerosis" ], "gold_answer": "Abnormal lymph-node tissue architecture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13122", "question": "What is associated with Deafness, neurosensory, autosomal recessive 42?", "seeds": [ "Deafness, neurosensory, autosomal recessive 42" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13123", "question": "What is associated with Cockayne syndrome type 2?", "seeds": [ "Cockayne syndrome type 2" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13124", "question": "What is associated with Hypochondriac delusion?", "seeds": [ "Hypochondriac delusion" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13125", "question": "What is associated with Heart and brain malformation syndrome?", "seeds": [ "Heart and brain malformation syndrome" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13126", "question": "What is associated with Refractory?", "seeds": [ "Refractory" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13127", "question": "What is associated with 11 pairs of ribs?", "seeds": [ "11 pairs of ribs" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the thorax", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13128", "question": "What is associated with Long upper lip?", "seeds": [ "Long upper lip" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13129", "question": "What is associated with Hypoplasia of the iris?", "seeds": [ "Hypoplasia of the iris" ], "gold_answer": "Aplasia/Hypoplasia of the iris", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13130", "question": "What is associated with Flared distal fibular metaphysis?", "seeds": [ "Flared distal fibular metaphysis" ], "gold_answer": "Flared metaphysis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13131", "question": "What is associated with Complete duplication of the phalanges of the 2nd finger?", "seeds": [ "Complete duplication of the phalanges of the 2nd finger" ], "gold_answer": "Duplication of phalanx of 2nd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13132", "question": "What is associated with Low placental alkaline phosphatase?", "seeds": [ "Low placental alkaline phosphatase" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13133", "question": "What phenotype is associated with Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities?", "seeds": [ "Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities" ], "gold_answer": "Tapered finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13134", "question": "What is associated with Facial telangiectasia in butterfly midface distribution?", "seeds": [ "Facial telangiectasia in butterfly midface distribution" ], "gold_answer": "Telangiectasia of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13135", "question": "What is associated with Abnormal ventriculoarterial connection?", "seeds": [ "Abnormal ventriculoarterial connection" ], "gold_answer": "Abnormal connection of the cardiac segments", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13136", "question": "What is associated with Pinguecula?", "seeds": [ "Pinguecula" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13137", "question": "What phenotype is associated with Gastroschisisabdominal wall defects, included?", "seeds": [ "Gastroschisisabdominal wall defects, included" ], "gold_answer": "Gastroschisis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13138", "question": "What is associated with Absent circulating immunoglobulin kappa chain?", "seeds": [ "Absent circulating immunoglobulin kappa chain" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13139", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 72?", "seeds": [ "Intellectual developmental disorder, X-linked 72" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13140", "question": "What is associated with STXBP1-related encephalopathy?", "seeds": [ "STXBP1-related encephalopathy" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13141", "question": "What is associated with Acrocephalopolydactyly?", "seeds": [ "Acrocephalopolydactyly" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13142", "question": "What is associated with Aortic dissection?", "seeds": [ "Aortic dissection" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13143", "question": "What is associated with Broad phalanx?", "seeds": [ "Broad phalanx" ], "gold_answer": "Broad long bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13144", "question": "What is associated with Rothmund-Thomson syndrome type 1?", "seeds": [ "Rothmund-Thomson syndrome type 1" ], "gold_answer": "Abnormal eyelash morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13145", "question": "What is associated with Hypoplasia of lymphatic vessels?", "seeds": [ "Hypoplasia of lymphatic vessels" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13146", "question": "What is associated with Insect allergy?", "seeds": [ "Insect allergy" ], "gold_answer": "Immunologic hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13147", "question": "What is associated with Ring chromosome 22 syndrome?", "seeds": [ "Ring chromosome 22 syndrome" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13148", "question": "What is associated with Portal hypertension?", "seeds": [ "Portal hypertension" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13149", "question": "What is associated with Brachydactyly, type A1, D?", "seeds": [ "Brachydactyly, type A1, D" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13150", "question": "What is associated with Broad middle phalanx of the 2nd finger?", "seeds": [ "Broad middle phalanx of the 2nd finger" ], "gold_answer": "Broad middle phalanx of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13151", "question": "What is associated with Sensorineural deafness with dilated cardiomyopathy?", "seeds": [ "Sensorineural deafness with dilated cardiomyopathy" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13152", "question": "What is associated with Parkinson disease 23, autosomal recessive, early onset?", "seeds": [ "Parkinson disease 23, autosomal recessive, early onset" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13153", "question": "What is associated with Fractured middle phalanx of manual digit 3?", "seeds": [ "Fractured middle phalanx of manual digit 3" ], "gold_answer": "Fractured finger phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13154", "question": "What is associated with Bronchial diverticula?", "seeds": [ "Bronchial diverticula" ], "gold_answer": "Abnormal bronchus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13155", "question": "What phenotype is associated with L-2-hydroxyglutaric aciduria?", "seeds": [ "L-2-hydroxyglutaric aciduria" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13156", "question": "What is associated with Hemolytic uremic syndrome, atypical, susceptibility to, 1?", "seeds": [ "Hemolytic uremic syndrome, atypical, susceptibility to, 1" ], "gold_answer": "Reduced consciousness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13157", "question": "What is associated with Myopathy, distal, 7, adult-onset, X-linked?", "seeds": [ "Myopathy, distal, 7, adult-onset, X-linked" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13158", "question": "What is associated with Ocular dyssynergia?", "seeds": [ "Ocular dyssynergia" ], "gold_answer": "Dyssynergia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13159", "question": "What is associated with Depression?", "seeds": [ "Depression" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13160", "question": "What is associated with Increased proteinogenic amino acid level in urine?", "seeds": [ "Increased proteinogenic amino acid level in urine" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13161", "question": "What is associated with Abnormal ureter morphology?", "seeds": [ "Abnormal ureter morphology" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13162", "question": "What is associated with Brain small vessel disease 2B, autosomal recessive?", "seeds": [ "Brain small vessel disease 2B, autosomal recessive" ], "gold_answer": "Stroke", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13163", "question": "What is associated with LAMA5-related multisystemic syndrome?", "seeds": [ "LAMA5-related multisystemic syndrome" ], "gold_answer": "LAMA5", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13164", "question": "What is associated with Congenital shortened small intestine?", "seeds": [ "Congenital shortened small intestine" ], "gold_answer": "Abnormal small intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13165", "question": "What is associated with Abnormal radial metaphysis morphology?", "seeds": [ "Abnormal radial metaphysis morphology" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13166", "question": "What is associated with Increased blood drug concentration?", "seeds": [ "Increased blood drug concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13167", "question": "What is associated with Increased OCT-measured macular thickness?", "seeds": [ "Increased OCT-measured macular thickness" ], "gold_answer": "Abnormal optical coherence tomography", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13168", "question": "What is associated with 3-methylglutaconic aciduria, type IX?", "seeds": [ "3-methylglutaconic aciduria, type IX" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13169", "question": "What is associated with Polycystic kidney disease 5?", "seeds": [ "Polycystic kidney disease 5" ], "gold_answer": "Abnormal renal cortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13170", "question": "What is associated with Dorsal subluxation of ulna?", "seeds": [ "Dorsal subluxation of ulna" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13171", "question": "What is associated with Delusional atmosphere?", "seeds": [ "Delusional atmosphere" ], "gold_answer": "Abnormal cognitive process", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13172", "question": "What is associated with Erythematous plaque?", "seeds": [ "Erythematous plaque" ], "gold_answer": "Skin plaque", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13173", "question": "What is associated with Abnormal immune serum protein physiology?", "seeds": [ "Abnormal immune serum protein physiology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13174", "question": "What is associated with Small intestinal polyp?", "seeds": [ "Small intestinal polyp" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13175", "question": "What is associated with Cockayne syndrome type 3?", "seeds": [ "Cockayne syndrome type 3" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13176", "question": "What is associated with Intellectual developmental disorder, X-linked syndromic 12?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic 12" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13177", "question": "What is associated with Abnormality of the submandibular region?", "seeds": [ "Abnormality of the submandibular region" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13178", "question": "What is associated with Tylosis with esophageal cancer?", "seeds": [ "Tylosis with esophageal cancer" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13179", "question": "What phenotype is associated with Arterial tortuosity syndrome?", "seeds": [ "Arterial tortuosity syndrome" ], "gold_answer": "Macrotia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13180", "question": "What is associated with Best corrected visual acuity 1.1 LogMAR?", "seeds": [ "Best corrected visual acuity 1.1 LogMAR" ], "gold_answer": "Abnormal best corrected visual acuity test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13181", "question": "What phenotype is associated with Ventriculomegaly with defects of the radius and kidney?", "seeds": [ "Ventriculomegaly with defects of the radius and kidney" ], "gold_answer": "Ventricular septal defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13182", "question": "What is associated with Esodeviation?", "seeds": [ "Esodeviation" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13183", "question": "What is associated with Aplasia/hypoplasia of proximal toe phalanx?", "seeds": [ "Aplasia/hypoplasia of proximal toe phalanx" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13184", "question": "What is associated with Atypical absence status epilepticus?", "seeds": [ "Atypical absence status epilepticus" ], "gold_answer": "Generalized non-convulsive status epilepticus without coma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13185", "question": "What is associated with Membranous nephropathy?", "seeds": [ "Membranous nephropathy" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13186", "question": "What is associated with Simple renal cyst?", "seeds": [ "Simple renal cyst" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13187", "question": "What is associated with Aortic aneurysm, abdominal?", "seeds": [ "Aortic aneurysm, abdominal" ], "gold_answer": "Aortic aneurysm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13188", "question": "What is associated with Oculomotor synkinesis?", "seeds": [ "Oculomotor synkinesis" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13189", "question": "What phenotype is associated with Cholestasis, progressive familial intrahepatic, 8?", "seeds": [ "Cholestasis, progressive familial intrahepatic, 8" ], "gold_answer": "Elevated circulating alkaline phosphatase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13190", "question": "What is associated with Excessive cerumen?", "seeds": [ "Excessive cerumen" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13191", "question": "What is associated with Malignant eosinophil proliferation?", "seeds": [ "Malignant eosinophil proliferation" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13192", "question": "What is associated with Agenesis of second permanent molar?", "seeds": [ "Agenesis of second permanent molar" ], "gold_answer": "Agenesis of permanent molar", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13193", "question": "What is associated with Well-differentiated liposarcoma?", "seeds": [ "Well-differentiated liposarcoma" ], "gold_answer": "HMGA2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "role_in_the_phenotype_of" } }, { "query_id": "orph_train_13194", "question": "What is associated with Cone-shaped metacarpal epiphyses?", "seeds": [ "Cone-shaped metacarpal epiphyses" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13195", "question": "What is associated with Diminished tissue glycogen branching enzyme activity?", "seeds": [ "Diminished tissue glycogen branching enzyme activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13196", "question": "What is associated with Fractured carpal bone?", "seeds": [ "Fractured carpal bone" ], "gold_answer": "Abnormal wrist morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13197", "question": "What is associated with Fragmentation of the epiphysis of the distal phalanx of the hallux?", "seeds": [ "Fragmentation of the epiphysis of the distal phalanx of the hallux" ], "gold_answer": "Abnormality of the epiphyses of the hallux", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13198", "question": "What is associated with Abnormal gonadotropin-releasing hormone concentration?", "seeds": [ "Abnormal gonadotropin-releasing hormone concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13199", "question": "What is associated with Ph-positive acute lymphoblastic leukemia?", "seeds": [ "Ph-positive acute lymphoblastic leukemia" ], "gold_answer": "Leukemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13200", "question": "What is associated with Lower eyelid coloboma?", "seeds": [ "Lower eyelid coloboma" ], "gold_answer": "Eyelid coloboma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13201", "question": "What is associated with Fanconi anemia, complementation group I?", "seeds": [ "Fanconi anemia, complementation group I" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13202", "question": "What is associated with Deafness, autosomal dominant nonsyndromic sensorineural 11?", "seeds": [ "Deafness, autosomal dominant nonsyndromic sensorineural 11" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13203", "question": "What is associated with Dysmetric saccades?", "seeds": [ "Dysmetric saccades" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13204", "question": "What is associated with Pulmonary hypertension, primary, autosomal recessive?", "seeds": [ "Pulmonary hypertension, primary, autosomal recessive" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13205", "question": "What phenotype is associated with Myopathy, granulovacuolar lobular, with electrical myotonia?", "seeds": [ "Myopathy, granulovacuolar lobular, with electrical myotonia" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13206", "question": "What is associated with Hydrocephaly-low insertion umbilicus syndrome?", "seeds": [ "Hydrocephaly-low insertion umbilicus syndrome" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13207", "question": "What is associated with Sporadic infantile bilateral striatal necrosis?", "seeds": [ "Sporadic infantile bilateral striatal necrosis" ], "gold_answer": "Tube feeding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13208", "question": "What is associated with Abnormal QRS complex?", "seeds": [ "Abnormal QRS complex" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13209", "question": "What is associated with Abnormality of the diaphragm?", "seeds": [ "Abnormality of the diaphragm" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13210", "question": "What is associated with Gingivitis?", "seeds": [ "Gingivitis" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13211", "question": "What is associated with Malignant atrophic papulosis?", "seeds": [ "Malignant atrophic papulosis" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13212", "question": "What is associated with Hypomyelination-congenital cataract syndrome?", "seeds": [ "Hypomyelination-congenital cataract syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13213", "question": "What is associated with Abnormal pulmonary vein morphology?", "seeds": [ "Abnormal pulmonary vein morphology" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13214", "question": "What is associated with Syndromic recessive X-linked ichthyosis?", "seeds": [ "Syndromic recessive X-linked ichthyosis" ], "gold_answer": "Hematological neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13215", "question": "What is associated with Decreased sweating due to autonomic dysfunction?", "seeds": [ "Decreased sweating due to autonomic dysfunction" ], "gold_answer": "Hypohidrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13216", "question": "What is associated with Autosomal recessive ataxia, Beauce type?", "seeds": [ "Autosomal recessive ataxia, Beauce type" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13217", "question": "What is associated with Derealization?", "seeds": [ "Derealization" ], "gold_answer": "Abnormal interpretation of external stimuli", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13218", "question": "What phenotype is associated with Atrial septal defect 9?", "seeds": [ "Atrial septal defect 9" ], "gold_answer": "Secundum atrial septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13219", "question": "What is associated with Irregular epiphysis of the distal phalanx of the 3rd toe?", "seeds": [ "Irregular epiphysis of the distal phalanx of the 3rd toe" ], "gold_answer": "Irregular epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13220", "question": "What is associated with Sex reversal?", "seeds": [ "Sex reversal" ], "gold_answer": "Abnormal sex determination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13221", "question": "What phenotype is associated with Dementia, lewy body?", "seeds": [ "Dementia, lewy body" ], "gold_answer": "Fluctuations in consciousness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13222", "question": "What is associated with DPM1-CDG?", "seeds": [ "DPM1-CDG" ], "gold_answer": "Generalized non-motor (absence) seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13223", "question": "What is associated with Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly?", "seeds": [ "Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the skull", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13224", "question": "What is associated with Pinealoma?", "seeds": [ "Pinealoma" ], "gold_answer": "Neuroepithelial neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13225", "question": "What is associated with Median pseudocleft lip?", "seeds": [ "Median pseudocleft lip" ], "gold_answer": "Cleft upper lip", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13226", "question": "What is associated with Pulmonary bullae causing pneumothorax?", "seeds": [ "Pulmonary bullae causing pneumothorax" ], "gold_answer": "Abnormal pleura morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13227", "question": "What is associated with Gowers sign?", "seeds": [ "Gowers sign" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13228", "question": "What is associated with Abnormal muscle tone?", "seeds": [ "Abnormal muscle tone" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13229", "question": "What is associated with Angulated forearm bones?", "seeds": [ "Angulated forearm bones" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13230", "question": "What is associated with Frontoocular syndrome?", "seeds": [ "Frontoocular syndrome" ], "gold_answer": "Abnormal upper lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13231", "question": "What is associated with Postpartum exacerbation?", "seeds": [ "Postpartum exacerbation" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13232", "question": "What is associated with Non-distal deletion 10q syndrome?", "seeds": [ "Non-distal deletion 10q syndrome" ], "gold_answer": "Deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13233", "question": "What is associated with Gaucher disease, type III?", "seeds": [ "Gaucher disease, type III" ], "gold_answer": "Supranuclear gaze palsy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13234", "question": "What is associated with Deafness, X-linked 7?", "seeds": [ "Deafness, X-linked 7" ], "gold_answer": "Microphthalmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13235", "question": "What is associated with Elevated circulating acetone concentration?", "seeds": [ "Elevated circulating acetone concentration" ], "gold_answer": "Hyperketonemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13236", "question": "What is associated with Paranasal sinus hypoplasia?", "seeds": [ "Paranasal sinus hypoplasia" ], "gold_answer": "Absent/hypoplastic paranasal sinuses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13237", "question": "What is associated with Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome?", "seeds": [ "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13238", "question": "What is associated with Olfactory lobe agenesis?", "seeds": [ "Olfactory lobe agenesis" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13239", "question": "What is associated with Delayed speech and language development?", "seeds": [ "Delayed speech and language development" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13240", "question": "What is associated with Anhedonia?", "seeds": [ "Anhedonia" ], "gold_answer": "Abnormal emotional state", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13241", "question": "What is associated with Patchy sclerosis of the distal phalanx of the 2nd finger?", "seeds": [ "Patchy sclerosis of the distal phalanx of the 2nd finger" ], "gold_answer": "Sclerosis of 2nd finger phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13242", "question": "What is associated with Neurodevelopmental disorder with poor growth and behavioral abnormalities?", "seeds": [ "Neurodevelopmental disorder with poor growth and behavioral abnormalities" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13243", "question": "What is associated with Pulmonary venoocclusive disease?", "seeds": [ "Pulmonary venoocclusive disease" ], "gold_answer": "BMPR2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "candidate_gene_tested_in" } }, { "query_id": "orph_train_13244", "question": "What is associated with Disturbance of facial expression?", "seeds": [ "Disturbance of facial expression" ], "gold_answer": "Abnormal facial expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13245", "question": "What phenotype is associated with Cardiomyopathy, familial hypertrophic, 12?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 12" ], "gold_answer": "Sudden cardiac death", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13246", "question": "What is associated with Limb-girdle muscular dystrophy?", "seeds": [ "Limb-girdle muscular dystrophy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13247", "question": "What is associated with Globe retraction and deviation on abduction?", "seeds": [ "Globe retraction and deviation on abduction" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13248", "question": "What is associated with Muscular dystrophy, limb-girdle, autosomal recessive 18?", "seeds": [ "Muscular dystrophy, limb-girdle, autosomal recessive 18" ], "gold_answer": "Limb-girdle muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13249", "question": "What is associated with Follicular hyperplasia?", "seeds": [ "Follicular hyperplasia" ], "gold_answer": "Lymphadenopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13250", "question": "What is associated with Alveolar bone loss around teeth?", "seeds": [ "Alveolar bone loss around teeth" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13251", "question": "What is associated with Delayed eruption of primary teeth?", "seeds": [ "Delayed eruption of primary teeth" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13252", "question": "What is associated with Elevated urinary 3-hydroxyadipic acid level?", "seeds": [ "Elevated urinary 3-hydroxyadipic acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13253", "question": "What is associated with Abnormal eyelid physiology?", "seeds": [ "Abnormal eyelid physiology" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13254", "question": "What is associated with X-linked intellectual disability, Armfield type?", "seeds": [ "X-linked intellectual disability, Armfield type" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13255", "question": "What is associated with Anti-envoplakin antibody positivity?", "seeds": [ "Anti-envoplakin antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13256", "question": "What phenotype is associated with Oligomeganephronia?", "seeds": [ "Oligomeganephronia" ], "gold_answer": "Urethral valve", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13257", "question": "What is associated with Papular xanthoma?", "seeds": [ "Papular xanthoma" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13258", "question": "What phenotype is associated with Bleeding disorder, platelet-type, 20?", "seeds": [ "Bleeding disorder, platelet-type, 20" ], "gold_answer": "Thrombocytopenia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13259", "question": "What is associated with Epidermal thickening?", "seeds": [ "Epidermal thickening" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13260", "question": "What phenotype is associated with Spermatogenic failure 89?", "seeds": [ "Spermatogenic failure 89" ], "gold_answer": "Absent sperm flagella", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13261", "question": "What is associated with Lafora bodies?", "seeds": [ "Lafora bodies" ], "gold_answer": "Cerebral inclusion bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13262", "question": "What is associated with Myxoid/round cell liposarcoma?", "seeds": [ "Myxoid/round cell liposarcoma" ], "gold_answer": "DDIT3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_train_13263", "question": "What phenotype is associated with Autoimmune polyendocrinopathy type 1?", "seeds": [ "Autoimmune polyendocrinopathy type 1" ], "gold_answer": "Malabsorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13264", "question": "What phenotype is associated with Pontocerebellar hypoplasia, type 10?", "seeds": [ "Pontocerebellar hypoplasia, type 10" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13265", "question": "What is associated with Skeletal muscle steatosis?", "seeds": [ "Skeletal muscle steatosis" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13266", "question": "What is associated with Adrenocorticotropic hormone deficiency?", "seeds": [ "Adrenocorticotropic hormone deficiency" ], "gold_answer": "Abnormality of the anterior pituitary", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13267", "question": "What is associated with Leukoencephalopathy, progressive, with ovarian failure?", "seeds": [ "Leukoencephalopathy, progressive, with ovarian failure" ], "gold_answer": "Abnormal superficial reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13268", "question": "What is associated with Aplasia/Hypoplasia of the proximal phalanx of the 5th finger?", "seeds": [ "Aplasia/Hypoplasia of the proximal phalanx of the 5th finger" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13269", "question": "What phenotype is associated with Cutis laxa, neonatal, with marfanoid phenotype?", "seeds": [ "Cutis laxa, neonatal, with marfanoid phenotype" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13270", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 48?", "seeds": [ "Autosomal recessive spastic paraplegia type 48" ], "gold_answer": "Spastic gait", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13271", "question": "What is associated with Syndactyly type 5?", "seeds": [ "Syndactyly type 5" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13272", "question": "What is associated with Intrarenal abscess?", "seeds": [ "Intrarenal abscess" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13273", "question": "What is associated with Multiple cafe-au-lait spots?", "seeds": [ "Multiple cafe-au-lait spots" ], "gold_answer": "Hypermelanotic macule", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13274", "question": "What is associated with Anti-erythrocyte autoantibody positivity?", "seeds": [ "Anti-erythrocyte autoantibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13275", "question": "What phenotype is associated with Bardet-Biedl syndrome 17?", "seeds": [ "Bardet-Biedl syndrome 17" ], "gold_answer": "Abnormality of abdominal situs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13276", "question": "What is associated with Birth length greater than 97th percentile?", "seeds": [ "Birth length greater than 97th percentile" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13277", "question": "What is associated with Anti-Zic4 antibody positivity?", "seeds": [ "Anti-Zic4 antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13278", "question": "What is associated with Mulchandani-Bhoj-Conlin syndrome?", "seeds": [ "Mulchandani-Bhoj-Conlin syndrome" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13279", "question": "What is associated with Dibasicaminoaciduria?", "seeds": [ "Dibasicaminoaciduria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13280", "question": "What phenotype is associated with Vitreoretinopathy, neovascular inflammatory?", "seeds": [ "Vitreoretinopathy, neovascular inflammatory" ], "gold_answer": "Posterior retinal neovascularization", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13281", "question": "What phenotype is associated with Deafness, autosomal recessive 76?", "seeds": [ "Deafness, autosomal recessive 76" ], "gold_answer": "Progressive sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13282", "question": "What is associated with Pfeiffer syndrome?", "seeds": [ "Pfeiffer syndrome" ], "gold_answer": "Abnormal eating behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13283", "question": "What is associated with Abnormal circulating progesterone level?", "seeds": [ "Abnormal circulating progesterone level" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13284", "question": "What is associated with Grayish enamel?", "seeds": [ "Grayish enamel" ], "gold_answer": "Abnormality of dental color", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13285", "question": "What is associated with Intra-epidermal blistering?", "seeds": [ "Intra-epidermal blistering" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13286", "question": "What is associated with Trichilemmoma?", "seeds": [ "Trichilemmoma" ], "gold_answer": "Neoplasm of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13287", "question": "What is associated with Large knee?", "seeds": [ "Large knee" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13288", "question": "What is associated with LCAT deficiency?", "seeds": [ "LCAT deficiency" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13289", "question": "What is associated with Lymph node necrosis?", "seeds": [ "Lymph node necrosis" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13290", "question": "What is associated with Anonychia-microcephaly syndrome?", "seeds": [ "Anonychia-microcephaly syndrome" ], "gold_answer": "Single transverse palmar crease", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13291", "question": "What is associated with Lack of germinal center mitotic figures?", "seeds": [ "Lack of germinal center mitotic figures" ], "gold_answer": "Abnormal lymph-node follicle architecture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13292", "question": "What is associated with Ameliorated by vitamin D?", "seeds": [ "Ameliorated by vitamin D" ], "gold_answer": "Ameliorated by exposure to medication", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13293", "question": "What phenotype is associated with Joubert syndrome 23?", "seeds": [ "Joubert syndrome 23" ], "gold_answer": "Tachypnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13294", "question": "What is associated with Reduced circulating transferrin concentration?", "seeds": [ "Reduced circulating transferrin concentration" ], "gold_answer": "Abnormal circulating transferrin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13295", "question": "What is associated with Abnormal coronary artery course?", "seeds": [ "Abnormal coronary artery course" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13296", "question": "What is associated with Abnormal B cell physiology?", "seeds": [ "Abnormal B cell physiology" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13297", "question": "What is associated with Reduced fibroblast surface marker level?", "seeds": [ "Reduced fibroblast surface marker level" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13298", "question": "What phenotype is associated with Marden-Walker syndrome?", "seeds": [ "Marden-Walker syndrome" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13299", "question": "What is associated with Increased intraabdominal fat?", "seeds": [ "Increased intraabdominal fat" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13300", "question": "What is associated with Permanent atrial fibrillation?", "seeds": [ "Permanent atrial fibrillation" ], "gold_answer": "Atrial arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13301", "question": "What is associated with Persistent open anterior fontanelle?", "seeds": [ "Persistent open anterior fontanelle" ], "gold_answer": "Abnormal fontanelle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13302", "question": "What is associated with Renal lymphocytic tubulitis?", "seeds": [ "Renal lymphocytic tubulitis" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13303", "question": "What is associated with Abnormal enzyme concentration or activity?", "seeds": [ "Abnormal enzyme concentration or activity" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13304", "question": "What is associated with Vaginal mass?", "seeds": [ "Vaginal mass" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13305", "question": "What is associated with Head titubation?", "seeds": [ "Head titubation" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13306", "question": "What is associated with Ivory epiphysis of the proximal phalanx of the thumb?", "seeds": [ "Ivory epiphysis of the proximal phalanx of the thumb" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13307", "question": "What is associated with Hepatojugular reflux?", "seeds": [ "Hepatojugular reflux" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13308", "question": "What is associated with Inability to walk?", "seeds": [ "Inability to walk" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13309", "question": "What is associated with DEAFNESS, Y-LINKED 1?", "seeds": [ "DEAFNESS, Y-LINKED 1" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13310", "question": "What is associated with Large humeral epiphyses?", "seeds": [ "Large humeral epiphyses" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13311", "question": "What is associated with Positive hydrogen breath test?", "seeds": [ "Positive hydrogen breath test" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13312", "question": "What is associated with Tubulointerstitial nephritis?", "seeds": [ "Tubulointerstitial nephritis" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13313", "question": "What is associated with Patchy sclerosis of 4th toe phalanx?", "seeds": [ "Patchy sclerosis of 4th toe phalanx" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13314", "question": "What phenotype is associated with Secondary non-traumatic avascular necrosis?", "seeds": [ "Secondary non-traumatic avascular necrosis" ], "gold_answer": "Anti-titin antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13315", "question": "What phenotype is associated with Distal 7q11.23 microduplication syndrome?", "seeds": [ "Distal 7q11.23 microduplication syndrome" ], "gold_answer": "Autistic behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13316", "question": "What is associated with Chromosome 19q13.11 deletion syndrome, proximal?", "seeds": [ "Chromosome 19q13.11 deletion syndrome, proximal" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13317", "question": "What phenotype is associated with Trichothiodystrophy?", "seeds": [ "Trichothiodystrophy" ], "gold_answer": "Microcornea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13318", "question": "What is associated with Focal absence of the external ear?", "seeds": [ "Focal absence of the external ear" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13319", "question": "What is associated with Retinal pigment epithelial loss on macular OCT?", "seeds": [ "Retinal pigment epithelial loss on macular OCT" ], "gold_answer": "Abnormal posterior segment imaging", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13320", "question": "What phenotype is associated with Maternal uniparental disomy of chromosome X syndrome?", "seeds": [ "Maternal uniparental disomy of chromosome X syndrome" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13321", "question": "What is associated with Fourth ray metatarsophalangeal synostosis?", "seeds": [ "Fourth ray metatarsophalangeal synostosis" ], "gold_answer": "Metatarsal synostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13322", "question": "What is associated with Lipoma of the conjunctiva?", "seeds": [ "Lipoma of the conjunctiva" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13323", "question": "What is associated with Diaphragmatic paralysis?", "seeds": [ "Diaphragmatic paralysis" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13324", "question": "What is associated with Reduced hepatic urocanase activity?", "seeds": [ "Reduced hepatic urocanase activity" ], "gold_answer": "Abnormal liver enzyme activity or concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13325", "question": "What is associated with Heparin-induced thrombocytopenia?", "seeds": [ "Heparin-induced thrombocytopenia" ], "gold_answer": "Abnormal platelet count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13326", "question": "What is associated with Proximal tubulopathy?", "seeds": [ "Proximal tubulopathy" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13327", "question": "What is associated with Decreased circulating heparan sulfate level?", "seeds": [ "Decreased circulating heparan sulfate level" ], "gold_answer": "Abnormal circulating carbohydrate concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13328", "question": "What is associated with Abnormality of mouth shape?", "seeds": [ "Abnormality of mouth shape" ], "gold_answer": "Abnormality of the mouth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13329", "question": "What is associated with Hurthle cell thyroid adenoma?", "seeds": [ "Hurthle cell thyroid adenoma" ], "gold_answer": "Neoplasm of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13330", "question": "What is associated with Occupational history of putting fingers in other people's mouths?", "seeds": [ "Occupational history of putting fingers in other people's mouths" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13331", "question": "What is associated with Tako-Tsubo cardiomyopathy?", "seeds": [ "Tako-Tsubo cardiomyopathy" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13332", "question": "What is associated with Hyperprolinemia type 2?", "seeds": [ "Hyperprolinemia type 2" ], "gold_answer": "Abnormal circulating pyruvate family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13333", "question": "What is associated with Transketolase deficiency?", "seeds": [ "Transketolase deficiency" ], "gold_answer": "Abnormal conjunctiva morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13334", "question": "What is associated with Ciliary dyskinesia, primary, 16?", "seeds": [ "Ciliary dyskinesia, primary, 16" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13335", "question": "What is associated with Combined deficiency of factor V and factor VIII type 2?", "seeds": [ "Combined deficiency of factor V and factor VIII type 2" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13336", "question": "What is associated with Stippled calcification of the humeral epiphyses?", "seeds": [ "Stippled calcification of the humeral epiphyses" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13337", "question": "What is associated with Bullet-shaped proximal toe phalanx?", "seeds": [ "Bullet-shaped proximal toe phalanx" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13338", "question": "What is associated with Chronic CSF lymphocytosis?", "seeds": [ "Chronic CSF lymphocytosis" ], "gold_answer": "CSF lymphocytic pleiocytosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13339", "question": "What is associated with Dysplastic testis?", "seeds": [ "Dysplastic testis" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13340", "question": "What is associated with Disseminated nontuberculous mycobacterial infection?", "seeds": [ "Disseminated nontuberculous mycobacterial infection" ], "gold_answer": "Opportunistic bacterial infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13341", "question": "What is associated with Hypoxemia in cord blood?", "seeds": [ "Hypoxemia in cord blood" ], "gold_answer": "Abnormal blood gas level in cord blood", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13342", "question": "What is associated with Elbow extension contracture?", "seeds": [ "Elbow extension contracture" ], "gold_answer": "Limb joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13343", "question": "What is associated with Abnormal interlobular vein intima/media morphology?", "seeds": [ "Abnormal interlobular vein intima/media morphology" ], "gold_answer": "Abnormal renal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13344", "question": "What is associated with Duplication of the proximal phalanx of the 2nd toe?", "seeds": [ "Duplication of the proximal phalanx of the 2nd toe" ], "gold_answer": "Abnormal 2nd toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13345", "question": "What phenotype is associated with Glycosylphosphatidylinositol biosynthesis defect 16?", "seeds": [ "Glycosylphosphatidylinositol biosynthesis defect 16" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13346", "question": "What is associated with Hyperpigmentation of the skin?", "seeds": [ "Hyperpigmentation of the skin" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13347", "question": "What phenotype is associated with Spinocerebellar ataxia 15?", "seeds": [ "Spinocerebellar ataxia 15" ], "gold_answer": "Limb ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13348", "question": "What is associated with Autosomal recessive ataxia due to PEX16 deficiency?", "seeds": [ "Autosomal recessive ataxia due to PEX16 deficiency" ], "gold_answer": "PEX16", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13349", "question": "What is associated with Urethrovaginal fistula?", "seeds": [ "Urethrovaginal fistula" ], "gold_answer": "Abnormality of the urethra", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13350", "question": "What is associated with Aromatase excess syndrome?", "seeds": [ "Aromatase excess syndrome" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13351", "question": "What is associated with Mediosternal depigmentation line?", "seeds": [ "Mediosternal depigmentation line" ], "gold_answer": "Hypopigmented streaks", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13352", "question": "What is associated with Abnormality of depressor labii inferioris?", "seeds": [ "Abnormality of depressor labii inferioris" ], "gold_answer": "Abnormality of facial musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13353", "question": "What is associated with Abnormality of the eye?", "seeds": [ "Abnormality of the eye" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13354", "question": "What is associated with Bracket epiphysis of the middle phalanx of the 5th toe?", "seeds": [ "Bracket epiphysis of the middle phalanx of the 5th toe" ], "gold_answer": "Bracket epiphyses", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13355", "question": "What is associated with Pugilistic facies?", "seeds": [ "Pugilistic facies" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13356", "question": "What is associated with Chronic noninfectious lymphadenopathy?", "seeds": [ "Chronic noninfectious lymphadenopathy" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13357", "question": "What is associated with Elevated urine guanidinoacetic acid level?", "seeds": [ "Elevated urine guanidinoacetic acid level" ], "gold_answer": "Abnormal urine guanidinoacetic acid level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13358", "question": "What phenotype is associated with Metatropic dysplasia?", "seeds": [ "Metatropic dysplasia" ], "gold_answer": "Flared iliac wing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13359", "question": "What is associated with Renal arteriole neutrophil endoarterial hypercellularity?", "seeds": [ "Renal arteriole neutrophil endoarterial hypercellularity" ], "gold_answer": "Renal arteriole endoarterial hypercellularity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13360", "question": "What is associated with Ureteral obstruction?", "seeds": [ "Ureteral obstruction" ], "gold_answer": "Abnormal ureter physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13361", "question": "What is associated with Abnormal circulating beta-mannosidase activity?", "seeds": [ "Abnormal circulating beta-mannosidase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13362", "question": "What is associated with Pulsatile mass in extremity?", "seeds": [ "Pulsatile mass in extremity" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13363", "question": "What is associated with Duplication of phalanx of 5th finger?", "seeds": [ "Duplication of phalanx of 5th finger" ], "gold_answer": "Duplication of bones involving the upper extremities", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13364", "question": "What is associated with Lichtenstein-Knorr syndrome?", "seeds": [ "Lichtenstein-Knorr syndrome" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13365", "question": "What is associated with Sanfilippo syndrome type B?", "seeds": [ "Sanfilippo syndrome type B" ], "gold_answer": "NAGLU", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_13366", "question": "What is associated with Agenesis of pulmonary vessels?", "seeds": [ "Agenesis of pulmonary vessels" ], "gold_answer": "Abnormality of the pulmonary vasculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13367", "question": "What is associated with Superior crossed-fused renal ectopia?", "seeds": [ "Superior crossed-fused renal ectopia" ], "gold_answer": "Ectopic kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13368", "question": "What phenotype is associated with ReNU syndrome?", "seeds": [ "ReNU syndrome" ], "gold_answer": "Wide mouth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13369", "question": "What phenotype is associated with Parasomnia, Sleepwalking type?", "seeds": [ "Parasomnia, Sleepwalking type" ], "gold_answer": "Sleep terror", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13370", "question": "What is associated with Fetal phenytoin exposure?", "seeds": [ "Fetal phenytoin exposure" ], "gold_answer": "Fetal exposure history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13371", "question": "What is associated with Abdominal aortic calcification?", "seeds": [ "Abdominal aortic calcification" ], "gold_answer": "Vascular calcification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13372", "question": "What is associated with Reduced prothrombin antigen?", "seeds": [ "Reduced prothrombin antigen" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13373", "question": "What is associated with Abnormal speech rhythm?", "seeds": [ "Abnormal speech rhythm" ], "gold_answer": "Abnormal prosody", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13374", "question": "What is associated with Chromosome 6pter-p24 deletion syndrome?", "seeds": [ "Chromosome 6pter-p24 deletion syndrome" ], "gold_answer": "Constipation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13375", "question": "What is associated with Prune belly?", "seeds": [ "Prune belly" ], "gold_answer": "Abnormal abdominal wall morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13376", "question": "What is associated with Intracranial dermoid cyst?", "seeds": [ "Intracranial dermoid cyst" ], "gold_answer": "Intracranial cystic lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13377", "question": "What is associated with Spina bifida occulta?", "seeds": [ "Spina bifida occulta" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13378", "question": "What is associated with Anterior chamber cells grade 3+?", "seeds": [ "Anterior chamber cells grade 3+" ], "gold_answer": "Abnormal anterior chamber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13379", "question": "What is associated with Timothy syndrome?", "seeds": [ "Timothy syndrome" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13380", "question": "What phenotype is associated with Striatonigral degeneration, infantile?", "seeds": [ "Striatonigral degeneration, infantile" ], "gold_answer": "Choreoathetosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13381", "question": "What is associated with Nonketotic hyperglycinemia?", "seeds": [ "Nonketotic hyperglycinemia" ], "gold_answer": "Abnormal circulating glycine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13382", "question": "What is associated with Metacarpal 4-5 fusion?", "seeds": [ "Metacarpal 4-5 fusion" ], "gold_answer": "Cutaneous syndactyly of toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13383", "question": "What is associated with Posterior staphyloma?", "seeds": [ "Posterior staphyloma" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13384", "question": "What phenotype is associated with Melanoma-Astrocytoma syndrome?", "seeds": [ "Melanoma-Astrocytoma syndrome" ], "gold_answer": "Astrocytoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13385", "question": "What is associated with Ivory epiphysis of the distal phalanx of the 3rd finger?", "seeds": [ "Ivory epiphysis of the distal phalanx of the 3rd finger" ], "gold_answer": "Ivory epiphyses of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13386", "question": "What is associated with Limited wrist movement?", "seeds": [ "Limited wrist movement" ], "gold_answer": "Abnormality of upper limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13387", "question": "What is associated with Elevated circulating D-dimer concentration?", "seeds": [ "Elevated circulating D-dimer concentration" ], "gold_answer": "Abnormality of fibrinolysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13388", "question": "What is associated with Preaxial deficiency, postaxial polydactyly, and hypospadias?", "seeds": [ "Preaxial deficiency, postaxial polydactyly, and hypospadias" ], "gold_answer": "Aplasia/Hypoplasia of the 5th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13389", "question": "What is associated with Digital arthropathy-brachydactyly, familial?", "seeds": [ "Digital arthropathy-brachydactyly, familial" ], "gold_answer": "Abnormal middle phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13390", "question": "What is associated with Double-layered patella?", "seeds": [ "Double-layered patella" ], "gold_answer": "Abnormal knee morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13391", "question": "What is associated with Elevated circulating CCL3 concentration?", "seeds": [ "Elevated circulating CCL3 concentration" ], "gold_answer": "Abnormal circulating CC chemokine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13392", "question": "What is associated with Hyperthermia, cutaneous, with headaches and nausea?", "seeds": [ "Hyperthermia, cutaneous, with headaches and nausea" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13393", "question": "What is associated with Abnormal hair morphology?", "seeds": [ "Abnormal hair morphology" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13394", "question": "What is associated with Abnormal shape of the occiput?", "seeds": [ "Abnormal shape of the occiput" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13395", "question": "What is associated with Cone-shaped epiphysis of the proximal phalanx of the 4th toe?", "seeds": [ "Cone-shaped epiphysis of the proximal phalanx of the 4th toe" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13396", "question": "What is associated with Broad diaphyses of the upper limbs?", "seeds": [ "Broad diaphyses of the upper limbs" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13397", "question": "What phenotype is associated with WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome?", "seeds": [ "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" ], "gold_answer": "Vertigo", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13398", "question": "What is associated with Neurofibrosarcoma?", "seeds": [ "Neurofibrosarcoma" ], "gold_answer": "Soft tissue sarcoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13399", "question": "What is associated with Parasite allergy?", "seeds": [ "Parasite allergy" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13400", "question": "What is associated with Elevated urinary 3-hydroxyadipic acid level?", "seeds": [ "Elevated urinary 3-hydroxyadipic acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13401", "question": "What is associated with Ankle joint effusion?", "seeds": [ "Ankle joint effusion" ], "gold_answer": "Abnormality of the ankle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13402", "question": "What is associated with Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive?", "seeds": [ "Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" ], "gold_answer": "Peripheral axonal degeneration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13403", "question": "What is associated with Infantile dystonia-parkinsonism?", "seeds": [ "Infantile dystonia-parkinsonism" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13404", "question": "What is associated with Double elevator palsy?", "seeds": [ "Double elevator palsy" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13405", "question": "What is associated with Increased level of D-threitol in plasma?", "seeds": [ "Increased level of D-threitol in plasma" ], "gold_answer": "Abnormal circulating carbohydrate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13406", "question": "What is associated with Transient bullous dermolysis of the newborn?", "seeds": [ "Transient bullous dermolysis of the newborn" ], "gold_answer": "Scarring", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13407", "question": "What is associated with Mirage syndrome?", "seeds": [ "Mirage syndrome" ], "gold_answer": "Deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13408", "question": "What is associated with Decreased Th17 T cell proportion?", "seeds": [ "Decreased Th17 T cell proportion" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13409", "question": "What is associated with Chronic active hepatitis?", "seeds": [ "Chronic active hepatitis" ], "gold_answer": "Hepatitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13410", "question": "What phenotype is associated with Oculogastrointestinal neurodevelopmental syndrome?", "seeds": [ "Oculogastrointestinal neurodevelopmental syndrome" ], "gold_answer": "Hirsutism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13411", "question": "What phenotype is associated with Periventricular nodular heterotopia 6?", "seeds": [ "Periventricular nodular heterotopia 6" ], "gold_answer": "Esophagitis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13412", "question": "What is associated with Tangier disease?", "seeds": [ "Tangier disease" ], "gold_answer": "Hyperlipidemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13413", "question": "What is associated with Increased radioactive iodine uptake?", "seeds": [ "Increased radioactive iodine uptake" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13414", "question": "What is associated with Glycogen accumulation in muscle fiber lysosomes?", "seeds": [ "Glycogen accumulation in muscle fiber lysosomes" ], "gold_answer": "Abnormal muscle glycogen content", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13415", "question": "What phenotype is associated with Cutaneous mastocytosis-deafness-microtia syndrome?", "seeds": [ "Cutaneous mastocytosis-deafness-microtia syndrome" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13416", "question": "What is associated with Aplasia/hypoplasia of the femur?", "seeds": [ "Aplasia/hypoplasia of the femur" ], "gold_answer": "Aplasia/hypoplasia of the extremities", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13417", "question": "What is associated with Abnormal cartilage morphology?", "seeds": [ "Abnormal cartilage morphology" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13418", "question": "What is associated with Lateral neck mass?", "seeds": [ "Lateral neck mass" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13419", "question": "What is associated with Acrosomal hypoplasia?", "seeds": [ "Acrosomal hypoplasia" ], "gold_answer": "Abnormal sperm head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13420", "question": "What phenotype is associated with Congenital lobar emphysema?", "seeds": [ "Congenital lobar emphysema" ], "gold_answer": "Wheezing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13421", "question": "What is associated with Elevated CSF D-glyceric acid concentration?", "seeds": [ "Elevated CSF D-glyceric acid concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13422", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 6, with or without seizures?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 6, with or without seizures" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13423", "question": "What is associated with Hypoplasia of facial musculature?", "seeds": [ "Hypoplasia of facial musculature" ], "gold_answer": "Abnormality of facial soft tissue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13424", "question": "What is associated with Neoplasm of the gallbladder?", "seeds": [ "Neoplasm of the gallbladder" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13425", "question": "What phenotype is associated with Tumor predisposition syndrome 2?", "seeds": [ "Tumor predisposition syndrome 2" ], "gold_answer": "Memory impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13426", "question": "What phenotype is associated with Mitochondrial complex I deficiency, nuclear type 9?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 9" ], "gold_answer": "Decreased activity of mitochondrial complex I", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13427", "question": "What is associated with Elevated urine 3-hydroxyglutaric level?", "seeds": [ "Elevated urine 3-hydroxyglutaric level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13428", "question": "What phenotype is associated with Witkop syndrome?", "seeds": [ "Witkop syndrome" ], "gold_answer": "Abnormal sweat gland morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13429", "question": "What is associated with Increased fetal movement?", "seeds": [ "Increased fetal movement" ], "gold_answer": "Prenatal movement abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13430", "question": "What is associated with Abnormal antitragus morphology?", "seeds": [ "Abnormal antitragus morphology" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13431", "question": "What is associated with Cortical dysplasia, complex, with other brain malformations 3?", "seeds": [ "Cortical dysplasia, complex, with other brain malformations 3" ], "gold_answer": "Abnormal cerebral cortex morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13432", "question": "What is associated with Vertebral fusion, posterior lumbosacral, with blepharoptosis?", "seeds": [ "Vertebral fusion, posterior lumbosacral, with blepharoptosis" ], "gold_answer": "ZFHX4", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "candidate_gene_tested_in" } }, { "query_id": "orph_train_13433", "question": "What is associated with Focal impaired awareness orofacial automatism seizure?", "seeds": [ "Focal impaired awareness orofacial automatism seizure" ], "gold_answer": "Focal impaired awareness seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13434", "question": "What is associated with Ear pain exacerbated by manipulating tragus or pinna?", "seeds": [ "Ear pain exacerbated by manipulating tragus or pinna" ], "gold_answer": "Aggravated by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13435", "question": "What is associated with Progressive microcephaly?", "seeds": [ "Progressive microcephaly" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13436", "question": "What is associated with Hyperlipidemia, familial combined, 3?", "seeds": [ "Hyperlipidemia, familial combined, 3" ], "gold_answer": "Increased circulating apolipoprotein circulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13437", "question": "What is associated with Cleft lip/palate-intestinal malrotation-cardiopathy syndrome?", "seeds": [ "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13438", "question": "What is associated with Elevated circulating trypsinogen concentration?", "seeds": [ "Elevated circulating trypsinogen concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13439", "question": "What is associated with Megaloblepharon?", "seeds": [ "Megaloblepharon" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13440", "question": "What is associated with Complex renal cyst?", "seeds": [ "Complex renal cyst" ], "gold_answer": "Renal cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13441", "question": "What is associated with Triggered by high-fat diet?", "seeds": [ "Triggered by high-fat diet" ], "gold_answer": "Triggered by", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13442", "question": "What is associated with Aphasia?", "seeds": [ "Aphasia" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13443", "question": "What is associated with Bardet-Biedl syndrome 22?", "seeds": [ "Bardet-Biedl syndrome 22" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13444", "question": "What is associated with Focal-onset seizure evolving into bilateral convulsive status epilepticus?", "seeds": [ "Focal-onset seizure evolving into bilateral convulsive status epilepticus" ], "gold_answer": "Status epilepticus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13445", "question": "What is associated with Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome?", "seeds": [ "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13446", "question": "What is associated with Xeroderma pigmentosum, complementation group D?", "seeds": [ "Xeroderma pigmentosum, complementation group D" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13447", "question": "What is associated with Abnormal circulating selenium concentration?", "seeds": [ "Abnormal circulating selenium concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13448", "question": "What is associated with Elevated circulating N,N-dimethylglycine concentration?", "seeds": [ "Elevated circulating N,N-dimethylglycine concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13449", "question": "What is associated with Hopelessness?", "seeds": [ "Hopelessness" ], "gold_answer": "Abnormal preoccupation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13450", "question": "What is associated with Autosomal dominant intermediate Charcot-Marie-Tooth disease type E?", "seeds": [ "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E" ], "gold_answer": "INF2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13451", "question": "What is associated with Acrorenal-Mandibular syndrome?", "seeds": [ "Acrorenal-Mandibular syndrome" ], "gold_answer": "Abnormality of the diaphragm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13452", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, axonal, type 2D?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2D" ], "gold_answer": "Thenar muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13453", "question": "What is associated with Mediastinal mass?", "seeds": [ "Mediastinal mass" ], "gold_answer": "Abnormal pulmonary thoracic imaging finding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13454", "question": "What is associated with Severe primary trimethylaminuria?", "seeds": [ "Severe primary trimethylaminuria" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13455", "question": "What is associated with Squamous metaplasia?", "seeds": [ "Squamous metaplasia" ], "gold_answer": "Histopathological abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13456", "question": "What is associated with Ivory epiphysis of the middle phalanx of the 5th finger?", "seeds": [ "Ivory epiphysis of the middle phalanx of the 5th finger" ], "gold_answer": "Abnormality of the epiphysis of the middle phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13457", "question": "What is associated with Fractured facial bone?", "seeds": [ "Fractured facial bone" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13458", "question": "What is associated with Abnormal social behavior?", "seeds": [ "Abnormal social behavior" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13459", "question": "What is associated with Transient nephrotic syndrome?", "seeds": [ "Transient nephrotic syndrome" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13460", "question": "What is associated with Neurodevelopmental disorder with absent language and variable seizures?", "seeds": [ "Neurodevelopmental disorder with absent language and variable seizures" ], "gold_answer": "Abnormal cerebral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13461", "question": "What is associated with Cystoid macular edema?", "seeds": [ "Cystoid macular edema" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13462", "question": "What is associated with Isolated focal non-epidermolytic palmoplantar keratoderma?", "seeds": [ "Isolated focal non-epidermolytic palmoplantar keratoderma" ], "gold_answer": "TRPV3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_train_13463", "question": "What is associated with Cartilaginous tracheobronchomalacia?", "seeds": [ "Cartilaginous tracheobronchomalacia" ], "gold_answer": "Tracheobronchomalacia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13464", "question": "What is associated with Food allergy?", "seeds": [ "Food allergy" ], "gold_answer": "Allergy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13465", "question": "What is associated with External carotid artery calcification?", "seeds": [ "External carotid artery calcification" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13466", "question": "What is associated with Auditory hypersensitivity?", "seeds": [ "Auditory hypersensitivity" ], "gold_answer": "Sensory hypersensitivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13467", "question": "What phenotype is associated with 46,xy sex reversal 6?", "seeds": [ "46,xy sex reversal 6" ], "gold_answer": "Hirsutism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13468", "question": "What phenotype is associated with Frank-Ter Haar syndrome?", "seeds": [ "Frank-Ter Haar syndrome" ], "gold_answer": "Broad forehead", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13469", "question": "What is associated with Abnormal 3rd finger morphology?", "seeds": [ "Abnormal 3rd finger morphology" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13470", "question": "What is associated with Ivory epiphysis of the 1st metatarsal?", "seeds": [ "Ivory epiphysis of the 1st metatarsal" ], "gold_answer": "Ivory epiphyses of the hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13471", "question": "What is associated with Spastic paraplegia-precocious puberty syndrome?", "seeds": [ "Spastic paraplegia-precocious puberty syndrome" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13472", "question": "What is associated with Perinephric abscess?", "seeds": [ "Perinephric abscess" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13473", "question": "What is associated with Cooper-Jabs syndrome?", "seeds": [ "Cooper-Jabs syndrome" ], "gold_answer": "Flexion contracture of digit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13474", "question": "What is associated with Abnormal lens morphology?", "seeds": [ "Abnormal lens morphology" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13475", "question": "What is associated with Inclusion body fibromatosis?", "seeds": [ "Inclusion body fibromatosis" ], "gold_answer": "Fibrous tissue neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13476", "question": "What phenotype is associated with Wilms tumor 7?", "seeds": [ "Wilms tumor 7" ], "gold_answer": "Nephroblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13477", "question": "What is associated with Humeroulnar synostosis?", "seeds": [ "Humeroulnar synostosis" ], "gold_answer": "Abnormality of the elbow", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13478", "question": "What is associated with Fetal and neonatal alloimmune thrombocytopenia?", "seeds": [ "Fetal and neonatal alloimmune thrombocytopenia" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13479", "question": "What is associated with Spastic paraplegia 52, autosomal recessive?", "seeds": [ "Spastic paraplegia 52, autosomal recessive" ], "gold_answer": "Infection-related seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13480", "question": "What phenotype is associated with Familial hyperaldosteronism type III?", "seeds": [ "Familial hyperaldosteronism type III" ], "gold_answer": "Intracranial hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13481", "question": "What phenotype is associated with Restrictive dermopathy 1?", "seeds": [ "Restrictive dermopathy 1" ], "gold_answer": "Hypertelorism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13482", "question": "What is associated with Klippel-Feil syndrome, autosomal recessive?", "seeds": [ "Klippel-Feil syndrome, autosomal recessive" ], "gold_answer": "Abnormal cardiac septum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13483", "question": "What is associated with Generalized hypotrichosis?", "seeds": [ "Generalized hypotrichosis" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13484", "question": "What is associated with Aplasia/Hypoplasia of the midbrain?", "seeds": [ "Aplasia/Hypoplasia of the midbrain" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13485", "question": "What is associated with Adenomatous colonic polyposis?", "seeds": [ "Adenomatous colonic polyposis" ], "gold_answer": "Neoplasm of the colon", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13486", "question": "What is associated with Increased immature B cell proportion?", "seeds": [ "Increased immature B cell proportion" ], "gold_answer": "Abnormal B cell subset distribution", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13487", "question": "What is associated with History of recent participation in athletics?", "seeds": [ "History of recent participation in athletics" ], "gold_answer": "Recent past medical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13488", "question": "What is associated with Rajab interstitial lung disease with brain calcifications?", "seeds": [ "Rajab interstitial lung disease with brain calcifications" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13489", "question": "What is associated with Sheldon-Hall syndrome?", "seeds": [ "Sheldon-Hall syndrome" ], "gold_answer": "Aplasia/hypoplasia involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13490", "question": "What is associated with Blepharochalasis, superior?", "seeds": [ "Blepharochalasis, superior" ], "gold_answer": "Palpebral edema", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13491", "question": "What is associated with Decreased alpha-galactosidase A activity?", "seeds": [ "Decreased alpha-galactosidase A activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13492", "question": "What is associated with Loss of ability to walk in first decade?", "seeds": [ "Loss of ability to walk in first decade" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13493", "question": "What is associated with Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads?", "seeds": [ "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" ], "gold_answer": "Abnormality of nail color", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13494", "question": "What is associated with Elevated brain N-acetyl aspartate level by MRS?", "seeds": [ "Elevated brain N-acetyl aspartate level by MRS" ], "gold_answer": "Abnormal metabolic brain imaging by MRS", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13495", "question": "What is associated with Osteomyelitis leading to amputation due to slow healing fractures?", "seeds": [ "Osteomyelitis leading to amputation due to slow healing fractures" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13496", "question": "What is associated with Areas of hypopigmentation and hyperpigmentation that follow Blaschko lines?", "seeds": [ "Areas of hypopigmentation and hyperpigmentation that follow Blaschko lines" ], "gold_answer": "Hyperpigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13497", "question": "What is associated with Reduced proximal interphalangeal joint space?", "seeds": [ "Reduced proximal interphalangeal joint space" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13498", "question": "What is associated with Agenesis of permanent mandibular central incisor?", "seeds": [ "Agenesis of permanent mandibular central incisor" ], "gold_answer": "Agenesis of mandibular incisor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13499", "question": "What is associated with Abnormal location of the eyebrow?", "seeds": [ "Abnormal location of the eyebrow" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13500", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 70?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 70" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13501", "question": "What is associated with Rasmussen subacute encephalitis?", "seeds": [ "Rasmussen subacute encephalitis" ], "gold_answer": "Abnormal cerebral cortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13502", "question": "What is associated with Unusual gastrointestinal infection?", "seeds": [ "Unusual gastrointestinal infection" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13503", "question": "What is associated with Glycogen storage disease due to phosphoglycerate kinase 1 deficiency?", "seeds": [ "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13504", "question": "What is associated with Placenta increta?", "seeds": [ "Placenta increta" ], "gold_answer": "Abnormal placenta morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13505", "question": "What is associated with Bone marrow hypocellularity?", "seeds": [ "Bone marrow hypocellularity" ], "gold_answer": "Abnormal bone marrow cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13506", "question": "What is associated with Conjunctival cicatrization?", "seeds": [ "Conjunctival cicatrization" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13507", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 60?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 60" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13508", "question": "What is associated with Central adrenal insufficiency?", "seeds": [ "Central adrenal insufficiency" ], "gold_answer": "Abnormality of the adrenal glands", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13509", "question": "What is associated with Open angle glaucoma?", "seeds": [ "Open angle glaucoma" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13510", "question": "What is associated with Sclerosis of the proximal phalanx of the 4th finger?", "seeds": [ "Sclerosis of the proximal phalanx of the 4th finger" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13511", "question": "What is associated with Abnormality of the urinary system?", "seeds": [ "Abnormality of the urinary system" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13512", "question": "What phenotype is associated with Epidermolysis bullosa simplex 2B, generalized intermediate?", "seeds": [ "Epidermolysis bullosa simplex 2B, generalized intermediate" ], "gold_answer": "Palmoplantar blistering", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13513", "question": "What is associated with Null syndrome?", "seeds": [ "Null syndrome" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13514", "question": "What is associated with Donohue syndrome?", "seeds": [ "Donohue syndrome" ], "gold_answer": "Ventricular hypertrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13515", "question": "What is associated with Cranial asymmetry?", "seeds": [ "Cranial asymmetry" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13516", "question": "What is associated with Paragangliomas 2?", "seeds": [ "Paragangliomas 2" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13517", "question": "What phenotype is associated with X-linked intellectual disability, Cilliers type?", "seeds": [ "X-linked intellectual disability, Cilliers type" ], "gold_answer": "Failure to thrive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13518", "question": "What is associated with Disturbed perception with a stimulus?", "seeds": [ "Disturbed perception with a stimulus" ], "gold_answer": "Abnormal interpretation of external stimuli", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13519", "question": "What is associated with EEG with focal slow activity?", "seeds": [ "EEG with focal slow activity" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13520", "question": "What is associated with Bullet-shaped distal phalanx of the 4th toe?", "seeds": [ "Bullet-shaped distal phalanx of the 4th toe" ], "gold_answer": "Bullet-shaped 4th toe phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13521", "question": "What is associated with Type A2 brachydactyly?", "seeds": [ "Type A2 brachydactyly" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13522", "question": "What is associated with Renal coloboma syndrome?", "seeds": [ "Renal coloboma syndrome" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13523", "question": "What is associated with Purulent sputum?", "seeds": [ "Purulent sputum" ], "gold_answer": "Abnormal sputum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13524", "question": "What is associated with Foix-Chavany-Marie syndrome?", "seeds": [ "Foix-Chavany-Marie syndrome" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13525", "question": "What phenotype is associated with Neuralgic amyotrophy?", "seeds": [ "Neuralgic amyotrophy" ], "gold_answer": "Hypoesthesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13526", "question": "What phenotype is associated with Congenital myopathy 5 with cardiomyopathy?", "seeds": [ "Congenital myopathy 5 with cardiomyopathy" ], "gold_answer": "Difficulty running", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13527", "question": "What is associated with Basal ganglia cysts?", "seeds": [ "Basal ganglia cysts" ], "gold_answer": "Abnormal basal ganglia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13528", "question": "What is associated with Scapular aplasia?", "seeds": [ "Scapular aplasia" ], "gold_answer": "Aplasia/hypoplasia affecting bones of the axial skeleton", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13529", "question": "What is associated with Renal cortical interstitial inflammation?", "seeds": [ "Renal cortical interstitial inflammation" ], "gold_answer": "Abnormal renal interstitial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13530", "question": "What is associated with Cone-shaped epiphyses of the 5th toe?", "seeds": [ "Cone-shaped epiphyses of the 5th toe" ], "gold_answer": "Abnormality of the epiphyses of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13531", "question": "What is associated with Diminished glomerular basement membrane collagen IV alpha 5 chain staining?", "seeds": [ "Diminished glomerular basement membrane collagen IV alpha 5 chain staining" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13532", "question": "What is associated with DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF?", "seeds": [ "DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13533", "question": "What is associated with MEHMO syndrome?", "seeds": [ "MEHMO syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13534", "question": "What is associated with Hypothyroidism, central, and testicular enlargement?", "seeds": [ "Hypothyroidism, central, and testicular enlargement" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13535", "question": "What is associated with Abnormally rapid thought process?", "seeds": [ "Abnormally rapid thought process" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13536", "question": "What is associated with Neuropathy, hereditary sensory, type IF?", "seeds": [ "Neuropathy, hereditary sensory, type IF" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13537", "question": "What phenotype is associated with Immunodeficiency 17?", "seeds": [ "Immunodeficiency 17" ], "gold_answer": "Hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13538", "question": "What is associated with Complete duplication of the distal phalanx of the 4th toe?", "seeds": [ "Complete duplication of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormality of the distal phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13539", "question": "What is associated with Anterior chamber cyst?", "seeds": [ "Anterior chamber cyst" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13540", "question": "What is associated with Cardiac teratoma?", "seeds": [ "Cardiac teratoma" ], "gold_answer": "Embryonal neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13541", "question": "What is associated with Vascular granular osmiophilic material deposition?", "seeds": [ "Vascular granular osmiophilic material deposition" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13542", "question": "What is associated with Skin dimple?", "seeds": [ "Skin dimple" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13543", "question": "What is associated with Starch intolerance?", "seeds": [ "Starch intolerance" ], "gold_answer": "Malabsorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13544", "question": "What phenotype is associated with Spermatogenic failure, X-linked, 6?", "seeds": [ "Spermatogenic failure, X-linked, 6" ], "gold_answer": "Microcephalic sperm head", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13545", "question": "What is associated with White lesion of the oral mucosa?", "seeds": [ "White lesion of the oral mucosa" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13546", "question": "What is associated with Arthralgia/arthritis?", "seeds": [ "Arthralgia/arthritis" ], "gold_answer": "Arthralgia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13547", "question": "What is associated with Albinism, oculocutaneous, type IB?", "seeds": [ "Albinism, oculocutaneous, type IB" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13548", "question": "What is associated with Reduced epidermal keratin 10 protein expression?", "seeds": [ "Reduced epidermal keratin 10 protein expression" ], "gold_answer": "Reduced epidermal keratin protein expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13549", "question": "What is associated with Dystonia 9?", "seeds": [ "Dystonia 9" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13550", "question": "What is associated with Histiocytoma, angiomatoid fibrous, somatic?", "seeds": [ "Histiocytoma, angiomatoid fibrous, somatic" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13551", "question": "What is associated with Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test?", "seeds": [ "Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13552", "question": "What is associated with Increased erythrocyte coproporphyrin concentration?", "seeds": [ "Increased erythrocyte coproporphyrin concentration" ], "gold_answer": "Elevated circulating porphyrin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13553", "question": "What is associated with Conjunctival amyloidosis?", "seeds": [ "Conjunctival amyloidosis" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13554", "question": "What is associated with Friedreich ataxia?", "seeds": [ "Friedreich ataxia" ], "gold_answer": "Peripheral axonal neuropathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13555", "question": "What is associated with Familial scaphocephaly syndrome, McGillivray type?", "seeds": [ "Familial scaphocephaly syndrome, McGillivray type" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13556", "question": "What phenotype is associated with Nephronophthisis-Like nephropathy 1?", "seeds": [ "Nephronophthisis-Like nephropathy 1" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13557", "question": "What phenotype is associated with Spastic paraplegia 70, autosomal recessive?", "seeds": [ "Spastic paraplegia 70, autosomal recessive" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13558", "question": "What is associated with CSF lymphocytic pleiocytosis?", "seeds": [ "CSF lymphocytic pleiocytosis" ], "gold_answer": "CSF pleocytosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13559", "question": "What is associated with Cowchock syndrome?", "seeds": [ "Cowchock syndrome" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13560", "question": "What is associated with Hypoplasia of the ciliary body?", "seeds": [ "Hypoplasia of the ciliary body" ], "gold_answer": "Abnormal uvea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13561", "question": "What is associated with Elevated circulating sCD25 concentration?", "seeds": [ "Elevated circulating sCD25 concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13562", "question": "What phenotype is associated with Dyskeratosis congenita, autosomal recessive 8?", "seeds": [ "Dyskeratosis congenita, autosomal recessive 8" ], "gold_answer": "Decreased total B cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13563", "question": "What is associated with Exposure to oily lotions or creams?", "seeds": [ "Exposure to oily lotions or creams" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13564", "question": "What is associated with Supravalvar pulmonary stenosis?", "seeds": [ "Supravalvar pulmonary stenosis" ], "gold_answer": "Abnormal pulmonary valve physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13565", "question": "What is associated with Excessive insulin response to glucagon test?", "seeds": [ "Excessive insulin response to glucagon test" ], "gold_answer": "Abnormal response to endocrine stimulation test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13566", "question": "What is associated with Brittle cornea syndrome?", "seeds": [ "Brittle cornea syndrome" ], "gold_answer": "Abnormal hip joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13567", "question": "What is associated with Hyperostosis?", "seeds": [ "Hyperostosis" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13568", "question": "What is associated with Spastic paraplegia 17?", "seeds": [ "Spastic paraplegia 17" ], "gold_answer": "Distal upper limb amyotrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13569", "question": "What is associated with Longitudinal vaginal septum?", "seeds": [ "Longitudinal vaginal septum" ], "gold_answer": "Septate vagina", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13570", "question": "What is associated with Abnormal microglia morphology?", "seeds": [ "Abnormal microglia morphology" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13571", "question": "What is associated with Postaxial hand polydactyly?", "seeds": [ "Postaxial hand polydactyly" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13572", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 69?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 69" ], "gold_answer": "Bilateral tonic-clonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13573", "question": "What is associated with Abnormality of nasalis muscle?", "seeds": [ "Abnormality of nasalis muscle" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13574", "question": "What is associated with Hypocalcification of dental enamel?", "seeds": [ "Hypocalcification of dental enamel" ], "gold_answer": "Abnormal dental enamel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13575", "question": "What is associated with Decreased level of 1,5 anhydroglucitol in serum?", "seeds": [ "Decreased level of 1,5 anhydroglucitol in serum" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13576", "question": "What is associated with Alpha-N-acetylgalactosaminidase deficiency type 1?", "seeds": [ "Alpha-N-acetylgalactosaminidase deficiency type 1" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13577", "question": "What is associated with Aplasia/Hypoplasia involving the musculature of the upper limbs?", "seeds": [ "Aplasia/Hypoplasia involving the musculature of the upper limbs" ], "gold_answer": "Aplasia/Hypoplasia involving the skeletal musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13578", "question": "What is associated with Nevus anemicus?", "seeds": [ "Nevus anemicus" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13579", "question": "What is associated with With the rule astigmatism?", "seeds": [ "With the rule astigmatism" ], "gold_answer": "Astigmatism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13580", "question": "What is associated with Abnormal HDL3b concentration?", "seeds": [ "Abnormal HDL3b concentration" ], "gold_answer": "Abnormal HDL cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13581", "question": "What is associated with Ventricular fibrillation, familial, 1?", "seeds": [ "Ventricular fibrillation, familial, 1" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13582", "question": "What is associated with Thyroidization-type tubular atrophy?", "seeds": [ "Thyroidization-type tubular atrophy" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13583", "question": "What is associated with Quotidian fever?", "seeds": [ "Quotidian fever" ], "gold_answer": "Recurrent fever", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13584", "question": "What is associated with Lip telangiectasia?", "seeds": [ "Lip telangiectasia" ], "gold_answer": "Telangiectasia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13585", "question": "What is associated with Elevated circulating 3-hydroxyanthranilic acid concentration?", "seeds": [ "Elevated circulating 3-hydroxyanthranilic acid concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13586", "question": "What is associated with Elevated brain glycine level by MRS?", "seeds": [ "Elevated brain glycine level by MRS" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13587", "question": "What is associated with Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies?", "seeds": [ "Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13588", "question": "What is associated with Polycystic kidney dysplasia?", "seeds": [ "Polycystic kidney dysplasia" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13589", "question": "What is associated with Mitochondrial complex III deficiency, nuclear type 3?", "seeds": [ "Mitochondrial complex III deficiency, nuclear type 3" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13590", "question": "What is associated with Hypoketotic hypoglycemia?", "seeds": [ "Hypoketotic hypoglycemia" ], "gold_answer": "Hypoglycemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13591", "question": "What phenotype is associated with Nail disorder, nonsyndromic congenital, 5?", "seeds": [ "Nail disorder, nonsyndromic congenital, 5" ], "gold_answer": "Palmoplantar hyperhidrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13592", "question": "What phenotype is associated with Sarcoidosis, susceptibility to, 2?", "seeds": [ "Sarcoidosis, susceptibility to, 2" ], "gold_answer": "Pulmonary fibrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13593", "question": "What is associated with Popliteal pterygium?", "seeds": [ "Popliteal pterygium" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13594", "question": "What is associated with Spastic paraplegia 28, autosomal recessive?", "seeds": [ "Spastic paraplegia 28, autosomal recessive" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13595", "question": "What is associated with Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome?", "seeds": [ "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13596", "question": "What is associated with Recurrent infantile hypoglycemia?", "seeds": [ "Recurrent infantile hypoglycemia" ], "gold_answer": "Abnormal blood glucose concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13597", "question": "What is associated with Affective epileptic aura?", "seeds": [ "Affective epileptic aura" ], "gold_answer": "Psychic epileptic aura", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13598", "question": "What is associated with Breath-holding spell?", "seeds": [ "Breath-holding spell" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13599", "question": "What is associated with Bardet-Biedl syndrome 16?", "seeds": [ "Bardet-Biedl syndrome 16" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13600", "question": "What is associated with Aplasia/Hypoplasia of the quadriceps?", "seeds": [ "Aplasia/Hypoplasia of the quadriceps" ], "gold_answer": "Aplasia/Hypoplasia of the musculature of the thigh", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13601", "question": "What is associated with Abnormal circulating threonine concentration?", "seeds": [ "Abnormal circulating threonine concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13602", "question": "What is associated with Neuropathy, hereditary motor and sensory, Okinawa type?", "seeds": [ "Neuropathy, hereditary motor and sensory, Okinawa type" ], "gold_answer": "Tetraplegia/tetraparesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13603", "question": "What is associated with Renal diverticulum?", "seeds": [ "Renal diverticulum" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13604", "question": "What phenotype is associated with Dystonia 4, torsion, autosomal dominant?", "seeds": [ "Dystonia 4, torsion, autosomal dominant" ], "gold_answer": "Torticollis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13605", "question": "What is associated with Irregular radial epiphyses?", "seeds": [ "Irregular radial epiphyses" ], "gold_answer": "Irregular epiphyses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13606", "question": "What is associated with Diminishment of comfort with casual physical contact?", "seeds": [ "Diminishment of comfort with casual physical contact" ], "gold_answer": "Abnormal change in social behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13607", "question": "What is associated with HbC hemoglobin?", "seeds": [ "HbC hemoglobin" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13608", "question": "What phenotype is associated with Toe, rotated fifth?", "seeds": [ "Toe, rotated fifth" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13609", "question": "What is associated with Pendulous urethral stricture?", "seeds": [ "Pendulous urethral stricture" ], "gold_answer": "Urethral stenosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13610", "question": "What is associated with Anti-thyroglobulin antibody positivity?", "seeds": [ "Anti-thyroglobulin antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13611", "question": "What phenotype is associated with Bardet-Biedl syndrome 8?", "seeds": [ "Bardet-Biedl syndrome 8" ], "gold_answer": "Intestinal malrotation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13612", "question": "What is associated with Osteochondrodysplasia, brachydactyly, and overlapping malformed digits?", "seeds": [ "Osteochondrodysplasia, brachydactyly, and overlapping malformed digits" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13613", "question": "What is associated with Thoracic platyspondyly?", "seeds": [ "Thoracic platyspondyly" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13614", "question": "What phenotype is associated with 13q12.3 microdeletion syndrome?", "seeds": [ "13q12.3 microdeletion syndrome" ], "gold_answer": "Camptodactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13615", "question": "What is associated with Breast myxoma?", "seeds": [ "Breast myxoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13616", "question": "What is associated with Spastic paraplegia-severe developmental delay-epilepsy syndrome?", "seeds": [ "Spastic paraplegia-severe developmental delay-epilepsy syndrome" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13617", "question": "What is associated with Upper-body predominance?", "seeds": [ "Upper-body predominance" ], "gold_answer": "Localized", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13618", "question": "What phenotype is associated with Lamb-Shaffer syndrome?", "seeds": [ "Lamb-Shaffer syndrome" ], "gold_answer": "Wide nasal bridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13619", "question": "What is associated with Punctal stenosis?", "seeds": [ "Punctal stenosis" ], "gold_answer": "Abnormal nasolacrimal system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13620", "question": "What is associated with Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy?", "seeds": [ "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy" ], "gold_answer": "Impairment in personality functioning", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13621", "question": "What is associated with Scaling skin?", "seeds": [ "Scaling skin" ], "gold_answer": "Abnormal epidermal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13622", "question": "What phenotype is associated with Neuropathy, hereditary motor, with myopathic features?", "seeds": [ "Neuropathy, hereditary motor, with myopathic features" ], "gold_answer": "Distal upper limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13623", "question": "What is associated with Isolated lissencephaly type 1 without known genetic defects?", "seeds": [ "Isolated lissencephaly type 1 without known genetic defects" ], "gold_answer": "Abnormal cerebral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13624", "question": "What is associated with Spondyloenchondrodysplasia?", "seeds": [ "Spondyloenchondrodysplasia" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13625", "question": "What is associated with Loeys-Dietz syndrome 5?", "seeds": [ "Loeys-Dietz syndrome 5" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13626", "question": "What is associated with Neurodevelopmental disorder with seizures and gingival overgrowth?", "seeds": [ "Neurodevelopmental disorder with seizures and gingival overgrowth" ], "gold_answer": "Interictal EEG abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13627", "question": "What is associated with Abnormal level of lymph-node cellular CD20 expression?", "seeds": [ "Abnormal level of lymph-node cellular CD20 expression" ], "gold_answer": "Abnormal lymph-node cellular antigen expression", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13628", "question": "What is associated with Frontomalar faciosynostosis?", "seeds": [ "Frontomalar faciosynostosis" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13629", "question": "What is associated with Osteocraniostenosis?", "seeds": [ "Osteocraniostenosis" ], "gold_answer": "FAM111A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13630", "question": "What is associated with Hypoplastic philtrum?", "seeds": [ "Hypoplastic philtrum" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13631", "question": "What is associated with Premature arteriosclerosis?", "seeds": [ "Premature arteriosclerosis" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13632", "question": "What is associated with Calcium nephrolithiasis?", "seeds": [ "Calcium nephrolithiasis" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13633", "question": "What is associated with Spermatogenic failure, Y-linked, 1?", "seeds": [ "Spermatogenic failure, Y-linked, 1" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13634", "question": "What is associated with Combined oxidative phosphorylation deficiency 11?", "seeds": [ "Combined oxidative phosphorylation deficiency 11" ], "gold_answer": "Abnormal ureter morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13635", "question": "What is associated with Triggered by vestibular stimulation?", "seeds": [ "Triggered by vestibular stimulation" ], "gold_answer": "Triggered by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13636", "question": "What is associated with Humeral cortical thinning?", "seeds": [ "Humeral cortical thinning" ], "gold_answer": "Abnormal bone structure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13637", "question": "What phenotype is associated with Paramyotonia congenita of Von Eulenburg?", "seeds": [ "Paramyotonia congenita of Von Eulenburg" ], "gold_answer": "Dysphagia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13638", "question": "What is associated with Myeloschisis?", "seeds": [ "Myeloschisis" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13639", "question": "What is associated with Abnormal lymph-node cellular finding?", "seeds": [ "Abnormal lymph-node cellular finding" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13640", "question": "What phenotype is associated with Apparent mineralocorticoid excess?", "seeds": [ "Apparent mineralocorticoid excess" ], "gold_answer": "Renal insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13641", "question": "What is associated with Hereditary butyrylcholinesterase deficiency?", "seeds": [ "Hereditary butyrylcholinesterase deficiency" ], "gold_answer": "Respiratory insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13642", "question": "What is associated with Shukla-Vernon syndrome?", "seeds": [ "Shukla-Vernon syndrome" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13643", "question": "What is associated with Positive blood barbiturate test?", "seeds": [ "Positive blood barbiturate test" ], "gold_answer": "Blood xenobiotic", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13644", "question": "What is associated with Chronic granulomatous disease 5, autosomal recessive?", "seeds": [ "Chronic granulomatous disease 5, autosomal recessive" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13645", "question": "What is associated with Stenosis of the external auditory canal?", "seeds": [ "Stenosis of the external auditory canal" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13646", "question": "What is associated with Basal ganglia calcification?", "seeds": [ "Basal ganglia calcification" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13647", "question": "What is associated with Michaelis-Gutmann bodies?", "seeds": [ "Michaelis-Gutmann bodies" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13648", "question": "What is associated with Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia?", "seeds": [ "Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia" ], "gold_answer": "Delayed gross motor development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13649", "question": "What is associated with Hypomelanotic macule?", "seeds": [ "Hypomelanotic macule" ], "gold_answer": "Hypopigmented macule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13650", "question": "What is associated with Protuberant abdomen?", "seeds": [ "Protuberant abdomen" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13651", "question": "What is associated with Anteverted nares?", "seeds": [ "Anteverted nares" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13652", "question": "What is associated with Galactose mutarotase deficiency?", "seeds": [ "Galactose mutarotase deficiency" ], "gold_answer": "Abnormal hepatobiliary system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13653", "question": "What is associated with Medulloepithelioma?", "seeds": [ "Medulloepithelioma" ], "gold_answer": "Central primitive neuroectodermal tumor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13654", "question": "What is associated with Underdeveloped crus of the helix?", "seeds": [ "Underdeveloped crus of the helix" ], "gold_answer": "Abnormal helix morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13655", "question": "What is associated with Exercise-induced myalgia?", "seeds": [ "Exercise-induced myalgia" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13656", "question": "What is associated with Abnormal metabolism?", "seeds": [ "Abnormal metabolism" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13657", "question": "What is associated with Galloway-Mowat syndrome 2, X-linked?", "seeds": [ "Galloway-Mowat syndrome 2, X-linked" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13658", "question": "What is associated with Elevated urinary vanillactic acid level?", "seeds": [ "Elevated urinary vanillactic acid level" ], "gold_answer": "Abnormal urine carboxylic acid level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13659", "question": "What is associated with Focal aware cognitive seizure?", "seeds": [ "Focal aware cognitive seizure" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13660", "question": "What is associated with Olanzapine exposure?", "seeds": [ "Olanzapine exposure" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13661", "question": "What is associated with Abnormal T cell physiology?", "seeds": [ "Abnormal T cell physiology" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13662", "question": "What is associated with Abdominal obesity-metabolic syndrome 1?", "seeds": [ "Abdominal obesity-metabolic syndrome 1" ], "gold_answer": "Obesity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13663", "question": "What phenotype is associated with Developmental delay, hypotonia, and impaired language?", "seeds": [ "Developmental delay, hypotonia, and impaired language" ], "gold_answer": "Laryngeal cleft", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13664", "question": "What is associated with Renal cortical microcysts?", "seeds": [ "Renal cortical microcysts" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13665", "question": "What is associated with Absent Birbeck granules in Langerhans cells?", "seeds": [ "Absent Birbeck granules in Langerhans cells" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13666", "question": "What is associated with Recurrent hypoglycemia?", "seeds": [ "Recurrent hypoglycemia" ], "gold_answer": "Abnormal blood glucose concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13667", "question": "What is associated with Unlayered lissencephaly?", "seeds": [ "Unlayered lissencephaly" ], "gold_answer": "Abnormal cortical gyration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13668", "question": "What is associated with Very frequent?", "seeds": [ "Very frequent" ], "gold_answer": "Frequency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13669", "question": "What is associated with Absent proximal phalanx of the 3rd toe?", "seeds": [ "Absent proximal phalanx of the 3rd toe" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13670", "question": "What is associated with Aplasia of the 5th finger?", "seeds": [ "Aplasia of the 5th finger" ], "gold_answer": "Aplasia/Hypoplasia of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13671", "question": "What is associated with Contracture of the proximal interphalangeal joint of the 4th toe?", "seeds": [ "Contracture of the proximal interphalangeal joint of the 4th toe" ], "gold_answer": "Flexion contracture of digit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13672", "question": "What is associated with Abnormal cell morphology?", "seeds": [ "Abnormal cell morphology" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13673", "question": "What is associated with Foot osteomyelitis?", "seeds": [ "Foot osteomyelitis" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13674", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 33?", "seeds": [ "Ciliary dyskinesia, primary, 33" ], "gold_answer": "Recurrent otitis media", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13675", "question": "What is associated with Cerebral hyaline bodies?", "seeds": [ "Cerebral hyaline bodies" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13676", "question": "What phenotype is associated with Encephalopathy due to prosaposin deficiency?", "seeds": [ "Encephalopathy due to prosaposin deficiency" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13677", "question": "What is associated with Urethritis?", "seeds": [ "Urethritis" ], "gold_answer": "Abnormality of the urinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13678", "question": "What is associated with Fragmented sleep?", "seeds": [ "Fragmented sleep" ], "gold_answer": "Poor sleep", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13679", "question": "What is associated with Bjornstad syndrome?", "seeds": [ "Bjornstad syndrome" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13680", "question": "What is associated with EEG with hyperventilation-induced generalized epileptiform discharges?", "seeds": [ "EEG with hyperventilation-induced generalized epileptiform discharges" ], "gold_answer": "EEG with hyperventilation-induced epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13681", "question": "What is associated with Retinal gliosis?", "seeds": [ "Retinal gliosis" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13682", "question": "What is associated with Floppy infant?", "seeds": [ "Floppy infant" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13683", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 33?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 33" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13684", "question": "What is associated with Frontal cortical localization?", "seeds": [ "Frontal cortical localization" ], "gold_answer": "Brain localization", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13685", "question": "What is associated with Increased incisura length?", "seeds": [ "Increased incisura length" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13686", "question": "What phenotype is associated with Deafness, autosomal recessive 118, with cochlear aplasia?", "seeds": [ "Deafness, autosomal recessive 118, with cochlear aplasia" ], "gold_answer": "Congenital sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13687", "question": "What phenotype is associated with Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity?", "seeds": [ "Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13688", "question": "What is associated with Corticospinal tract hypoplasia?", "seeds": [ "Corticospinal tract hypoplasia" ], "gold_answer": "Abnormal corticospinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13689", "question": "What is associated with CTCF-related neurodevelopmental disorder?", "seeds": [ "CTCF-related neurodevelopmental disorder" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13690", "question": "What is associated with Obesity due to congenital leptin deficiency?", "seeds": [ "Obesity due to congenital leptin deficiency" ], "gold_answer": "Abnormality of skeletal maturation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13691", "question": "What is associated with Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome?", "seeds": [ "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" ], "gold_answer": "Abnormal optic disc morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13692", "question": "What phenotype is associated with Night blindness, congenital stationary, type 1A?", "seeds": [ "Night blindness, congenital stationary, type 1A" ], "gold_answer": "Early-onset non-progressive night blindness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13693", "question": "What phenotype is associated with Spinocerebellar ataxia, autosomal recessive 7?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 7" ], "gold_answer": "Postural tremor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13694", "question": "What is associated with Elevated circulating dihydroxyphenylacetic acid concentration?", "seeds": [ "Elevated circulating dihydroxyphenylacetic acid concentration" ], "gold_answer": "Abnormal circulating organic amino compound concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13695", "question": "What is associated with Elejalde disease?", "seeds": [ "Elejalde disease" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13696", "question": "What phenotype is associated with Basilar impression, primary?", "seeds": [ "Basilar impression, primary" ], "gold_answer": "Cervical myelopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13697", "question": "What phenotype is associated with Renal cysts and diabetes syndrome?", "seeds": [ "Renal cysts and diabetes syndrome" ], "gold_answer": "Unilateral renal agenesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13698", "question": "What phenotype is associated with Nabais Sa-de vries syndrome, type 2?", "seeds": [ "Nabais Sa-de vries syndrome, type 2" ], "gold_answer": "Depressed nasal bridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13699", "question": "What phenotype is associated with Czech dysplasia, Metatarsal type?", "seeds": [ "Czech dysplasia, Metatarsal type" ], "gold_answer": "Platyspondyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13700", "question": "What is associated with Delayed ossification of the hand bones?", "seeds": [ "Delayed ossification of the hand bones" ], "gold_answer": "Abnormal enchondral ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13701", "question": "What is associated with Moderate constriction of peripheral visual field?", "seeds": [ "Moderate constriction of peripheral visual field" ], "gold_answer": "Constriction of peripheral visual field", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13702", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 4?", "seeds": [ "Developmental and epileptic encephalopathy 4" ], "gold_answer": "Cerebral atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13703", "question": "What is associated with Fallopian tube torsion?", "seeds": [ "Fallopian tube torsion" ], "gold_answer": "Abnormal fallopian tube morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13704", "question": "What is associated with Mitchell syndrome?", "seeds": [ "Mitchell syndrome" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13705", "question": "What is associated with 3-methylglutaconic aciduria type 8?", "seeds": [ "3-methylglutaconic aciduria type 8" ], "gold_answer": "HTRA2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13706", "question": "What is associated with Carnosinuria?", "seeds": [ "Carnosinuria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13707", "question": "What is associated with Abnormality of the epiphysis of the distal phalanx of the 2nd toe?", "seeds": [ "Abnormality of the epiphysis of the distal phalanx of the 2nd toe" ], "gold_answer": "Abnormal second toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13708", "question": "What is associated with Subdural hemorrhage?", "seeds": [ "Subdural hemorrhage" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13709", "question": "What is associated with Vertebral hypoplasia with lumbar kyphosis?", "seeds": [ "Vertebral hypoplasia with lumbar kyphosis" ], "gold_answer": "Aplasia/Hypoplasia of the vertebrae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13710", "question": "What is associated with Increased T cell apoptosis?", "seeds": [ "Increased T cell apoptosis" ], "gold_answer": "Abnormal T cell apoptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13711", "question": "What is associated with Hypoactive bowel sounds?", "seeds": [ "Hypoactive bowel sounds" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13712", "question": "What is associated with Developmental and epileptic encephalopathy 12?", "seeds": [ "Developmental and epileptic encephalopathy 12" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13713", "question": "What phenotype is associated with Gomez-Lopez-Hernandez syndrome?", "seeds": [ "Gomez-Lopez-Hernandez syndrome" ], "gold_answer": "Opacification of the corneal stroma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13714", "question": "What is associated with Hereditary butyrylcholinesterase deficiency?", "seeds": [ "Hereditary butyrylcholinesterase deficiency" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13715", "question": "What is associated with Predominant small joint localization?", "seeds": [ "Predominant small joint localization" ], "gold_answer": "Localized", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13716", "question": "What is associated with Adult CLN5 disease?", "seeds": [ "Adult CLN5 disease" ], "gold_answer": "CLN5", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13717", "question": "What is associated with Thickened nuchal skin fold?", "seeds": [ "Thickened nuchal skin fold" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13718", "question": "What is associated with X-linked lymphoproliferative disease due to SAP deficiency?", "seeds": [ "X-linked lymphoproliferative disease due to SAP deficiency" ], "gold_answer": "SH2D1A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13719", "question": "What is associated with Hemophagocytic syndrome associated with an infection?", "seeds": [ "Hemophagocytic syndrome associated with an infection" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13720", "question": "What is associated with Cotard delusion?", "seeds": [ "Cotard delusion" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13721", "question": "What is associated with Deafness, autosomal recessive 45?", "seeds": [ "Deafness, autosomal recessive 45" ], "gold_answer": "Childhood onset sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13722", "question": "What is associated with Statin exposure?", "seeds": [ "Statin exposure" ], "gold_answer": "Medication history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13723", "question": "What is associated with Splenic calcification?", "seeds": [ "Splenic calcification" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13724", "question": "What is associated with Right ventricular regional wall motion abnormality?", "seeds": [ "Right ventricular regional wall motion abnormality" ], "gold_answer": "Abnormal right ventricular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13725", "question": "What is associated with Distal radioulnar joint space widening?", "seeds": [ "Distal radioulnar joint space widening" ], "gold_answer": "Radioulnar dislocation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13726", "question": "What phenotype is associated with Hirschsprung disease-type D brachydactyly syndrome?", "seeds": [ "Hirschsprung disease-type D brachydactyly syndrome" ], "gold_answer": "Hypoplastic fingernail", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13727", "question": "What phenotype is associated with Pontocerebellar hypoplasia, type 5?", "seeds": [ "Pontocerebellar hypoplasia, type 5" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13728", "question": "What is associated with Elevated urinary formiminoglutamic acid level?", "seeds": [ "Elevated urinary formiminoglutamic acid level" ], "gold_answer": "Dicarboxylic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13729", "question": "What is associated with Undulate ribs?", "seeds": [ "Undulate ribs" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13730", "question": "What is associated with Abnormal OCT-measured macular thickness?", "seeds": [ "Abnormal OCT-measured macular thickness" ], "gold_answer": "Abnormal optical coherence tomography", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13731", "question": "What is associated with Fractured metaphysis of femur?", "seeds": [ "Fractured metaphysis of femur" ], "gold_answer": "Long-bone fracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13732", "question": "What is associated with Ehlers-Danlos syndrome, kyphoscoliotic type, 1?", "seeds": [ "Ehlers-Danlos syndrome, kyphoscoliotic type, 1" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13733", "question": "What is associated with LARYNGOMALACIA?", "seeds": [ "LARYNGOMALACIA" ], "gold_answer": "Abnormal larynx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13734", "question": "What phenotype is associated with Cooks syndrome?", "seeds": [ "Cooks syndrome" ], "gold_answer": "Split hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13735", "question": "What is associated with Low-frequency sensorineural hearing impairment?", "seeds": [ "Low-frequency sensorineural hearing impairment" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13736", "question": "What is associated with Joint contracture of the hand?", "seeds": [ "Joint contracture of the hand" ], "gold_answer": "Abnormality of upper limb joint", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13737", "question": "What is associated with Hereditary steroid-resistant nephrotic syndrome?", "seeds": [ "Hereditary steroid-resistant nephrotic syndrome" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13738", "question": "What is associated with Focal impaired awareness cognitive seizure with illusion?", "seeds": [ "Focal impaired awareness cognitive seizure with illusion" ], "gold_answer": "Focal impaired awareness cognitive seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13739", "question": "What is associated with Cataract, ataxia, short stature, and impaired intellectual development?", "seeds": [ "Cataract, ataxia, short stature, and impaired intellectual development" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13740", "question": "What is associated with Palmoplantar pustulosis?", "seeds": [ "Palmoplantar pustulosis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13741", "question": "What is associated with Left unicoronal synostosis?", "seeds": [ "Left unicoronal synostosis" ], "gold_answer": "Unicoronal synostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13742", "question": "What phenotype is associated with Radioulnar synostosis-microcephaly-scoliosis syndrome?", "seeds": [ "Radioulnar synostosis-microcephaly-scoliosis syndrome" ], "gold_answer": "Limited pronation/supination of forearm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13743", "question": "What phenotype is associated with Parkinson disease 15, autosomal recessive?", "seeds": [ "Parkinson disease 15, autosomal recessive" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13744", "question": "What is associated with Abnormal Descemet membrane morphology?", "seeds": [ "Abnormal Descemet membrane morphology" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13745", "question": "What is associated with Ventral hernia?", "seeds": [ "Ventral hernia" ], "gold_answer": "Hernia of the abdominal wall", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13746", "question": "What is associated with Hypoplastic areola?", "seeds": [ "Hypoplastic areola" ], "gold_answer": "Abnormal breast morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13747", "question": "What is associated with Cholestasis, benign recurrent intrahepatic 1?", "seeds": [ "Cholestasis, benign recurrent intrahepatic 1" ], "gold_answer": "Abnormal circulating bilirubin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13748", "question": "What phenotype is associated with Combined oxidative phosphorylation deficiency 23?", "seeds": [ "Combined oxidative phosphorylation deficiency 23" ], "gold_answer": "Hypertrophic cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13749", "question": "What phenotype is associated with Diastasis recti and weakness of the linea alba?", "seeds": [ "Diastasis recti and weakness of the linea alba" ], "gold_answer": "Diastasis recti", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13750", "question": "What is associated with Music-induced seizure?", "seeds": [ "Music-induced seizure" ], "gold_answer": "Reflex seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13751", "question": "What is associated with Galloway-Mowat syndrome 8?", "seeds": [ "Galloway-Mowat syndrome 8" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13752", "question": "What is associated with Abnormal spinal cord dorsal column morphology?", "seeds": [ "Abnormal spinal cord dorsal column morphology" ], "gold_answer": "Abnormal spinal cord white matter morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13753", "question": "What phenotype is associated with Inflammatory bowel disease 25, early onset, autosomal recessive?", "seeds": [ "Inflammatory bowel disease 25, early onset, autosomal recessive" ], "gold_answer": "Rectovaginal fistula", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13754", "question": "What is associated with Choanal atresia and lymphedema?", "seeds": [ "Choanal atresia and lymphedema" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13755", "question": "What is associated with Flexion contracture of digit?", "seeds": [ "Flexion contracture of digit" ], "gold_answer": "Flexion contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13756", "question": "What phenotype is associated with Thyroid carcinoma, familial medullary?", "seeds": [ "Thyroid carcinoma, familial medullary" ], "gold_answer": "Hyperhidrosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13757", "question": "What phenotype is associated with Short-Rib thoracic dysplasia 19 with or without polydactyly?", "seeds": [ "Short-Rib thoracic dysplasia 19 with or without polydactyly" ], "gold_answer": "Elevated maternal circulating alpha-fetoprotein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13758", "question": "What is associated with Testicular fibrosis?", "seeds": [ "Testicular fibrosis" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13759", "question": "What is associated with Salzmann corneal nodules?", "seeds": [ "Salzmann corneal nodules" ], "gold_answer": "Corneal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13760", "question": "What is associated with Spondyloarthropathy, susceptibility to, 1?", "seeds": [ "Spondyloarthropathy, susceptibility to, 1" ], "gold_answer": "Abnormal heart valve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13761", "question": "What is associated with Platyspondylic dysplasia, Torrance type?", "seeds": [ "Platyspondylic dysplasia, Torrance type" ], "gold_answer": "Abnormal nasal bridge morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13762", "question": "What is associated with ADAR-related hereditary spastic paraplegia?", "seeds": [ "ADAR-related hereditary spastic paraplegia" ], "gold_answer": "ADAR", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13763", "question": "What is associated with Decreased alveolar volume?", "seeds": [ "Decreased alveolar volume" ], "gold_answer": "Abnormal alveolar volume", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13764", "question": "What is associated with Abnormal male germ cell morphology?", "seeds": [ "Abnormal male germ cell morphology" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13765", "question": "What is associated with Flared femoral metaphysis?", "seeds": [ "Flared femoral metaphysis" ], "gold_answer": "Abnormal lower-limb metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13766", "question": "What is associated with Bone marrow failure syndrome 4?", "seeds": [ "Bone marrow failure syndrome 4" ], "gold_answer": "Limb undergrowth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13767", "question": "What is associated with Glaucoma 3, primary congenital, E?", "seeds": [ "Glaucoma 3, primary congenital, E" ], "gold_answer": "Asymmetry of intraocular pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13768", "question": "What phenotype is associated with Diarrhea 14, congenital?", "seeds": [ "Diarrhea 14, congenital" ], "gold_answer": "Dependency on parenteral nutrition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13769", "question": "What phenotype is associated with Mitral valve prolapse, myxomatous 3?", "seeds": [ "Mitral valve prolapse, myxomatous 3" ], "gold_answer": "Mitral regurgitation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13770", "question": "What is associated with Robinow-Sorauf syndrome?", "seeds": [ "Robinow-Sorauf syndrome" ], "gold_answer": "Abnormal midface morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13771", "question": "What is associated with Bullous lichen planus?", "seeds": [ "Bullous lichen planus" ], "gold_answer": "Abnormal breast morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13772", "question": "What is associated with S-adenosylhomocysteine hydrolase deficiency?", "seeds": [ "S-adenosylhomocysteine hydrolase deficiency" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13773", "question": "What is associated with Duplication of phalanx of 2nd finger?", "seeds": [ "Duplication of phalanx of 2nd finger" ], "gold_answer": "Hand polydactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13774", "question": "What is associated with Hyperostosis frontalis interna?", "seeds": [ "Hyperostosis frontalis interna" ], "gold_answer": "Cranial hyperostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13775", "question": "What is associated with Meconium ileus?", "seeds": [ "Meconium ileus" ], "gold_answer": "Intestinal obstruction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13776", "question": "What is associated with Familial pancreatic carcinoma?", "seeds": [ "Familial pancreatic carcinoma" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13777", "question": "What phenotype is associated with Spastic paraplegia 25, autosomal recessive?", "seeds": [ "Spastic paraplegia 25, autosomal recessive" ], "gold_answer": "Spastic paraplegia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13778", "question": "What is associated with Ocular albinism with late-onset sensorineural deafness?", "seeds": [ "Ocular albinism with late-onset sensorineural deafness" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13779", "question": "What phenotype is associated with Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome?", "seeds": [ "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13780", "question": "What is associated with Abnormal circulating fetuin A concentration?", "seeds": [ "Abnormal circulating fetuin A concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13781", "question": "What is associated with Abnormal hair pattern?", "seeds": [ "Abnormal hair pattern" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13782", "question": "What is associated with Scleritis?", "seeds": [ "Scleritis" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13783", "question": "What is associated with Increased serum estradiol?", "seeds": [ "Increased serum estradiol" ], "gold_answer": "Abnormal serum estradiol", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13784", "question": "What is associated with Atypical absence status epilepticus?", "seeds": [ "Atypical absence status epilepticus" ], "gold_answer": "Non-convulsive status epilepticus without coma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13785", "question": "What is associated with Ultra-low vision?", "seeds": [ "Ultra-low vision" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13786", "question": "What is associated with Absent epiphysis of the proximal phalanx of the 3rd finger?", "seeds": [ "Absent epiphysis of the proximal phalanx of the 3rd finger" ], "gold_answer": "Absent epiphyses", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13787", "question": "What is associated with Peripheral neuropathy, myopathy, hoarseness, and hearing loss?", "seeds": [ "Peripheral neuropathy, myopathy, hoarseness, and hearing loss" ], "gold_answer": "Somatic sensory dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13788", "question": "What is associated with Generalized hirsutism?", "seeds": [ "Generalized hirsutism" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13789", "question": "What is associated with Abnormality of the pancreatic islet cells?", "seeds": [ "Abnormality of the pancreatic islet cells" ], "gold_answer": "Abnormality of pancreas physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13790", "question": "What is associated with Abnormality of the distal phalanx of the hallux?", "seeds": [ "Abnormality of the distal phalanx of the hallux" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13791", "question": "What is associated with Brachioradialis hyporeflexia?", "seeds": [ "Brachioradialis hyporeflexia" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13792", "question": "What is associated with Abnormal circulating keto acid concentration?", "seeds": [ "Abnormal circulating keto acid concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13793", "question": "What phenotype is associated with Short-Rib thoracic dysplasia 10 with or without polydactyly?", "seeds": [ "Short-Rib thoracic dysplasia 10 with or without polydactyly" ], "gold_answer": "Cerebellar vermis hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13794", "question": "What phenotype is associated with Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder?", "seeds": [ "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" ], "gold_answer": "Intellectual disability, severe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13795", "question": "What phenotype is associated with Congenital pulmonary valvar stenosis?", "seeds": [ "Congenital pulmonary valvar stenosis" ], "gold_answer": "Laryngeal stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13796", "question": "What is associated with Nasolacrimal sac granuloma?", "seeds": [ "Nasolacrimal sac granuloma" ], "gold_answer": "Abnormal lacrimal sac morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13797", "question": "What is associated with Functional abnormality of the inner ear?", "seeds": [ "Functional abnormality of the inner ear" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13798", "question": "What is associated with Abnormal circulating branched chain amino acid concentration?", "seeds": [ "Abnormal circulating branched chain amino acid concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13799", "question": "What is associated with Ph-positive acute lymphoblastic leukemia?", "seeds": [ "Ph-positive acute lymphoblastic leukemia" ], "gold_answer": "Acute lymphoblastic leukemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13800", "question": "What is associated with Pulp obliteration?", "seeds": [ "Pulp obliteration" ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13801", "question": "What is associated with Brain malformation renal syndrome?", "seeds": [ "Brain malformation renal syndrome" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13802", "question": "What is associated with Multiple central nervous system lipomas?", "seeds": [ "Multiple central nervous system lipomas" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13803", "question": "What is associated with Delayed sleep phase disorder, susceptibility to?", "seeds": [ "Delayed sleep phase disorder, susceptibility to" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13804", "question": "What is associated with Pili torti-developmental delay-neurological abnormalities syndrome?", "seeds": [ "Pili torti-developmental delay-neurological abnormalities syndrome" ], "gold_answer": "Abnormal hairshaft morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13805", "question": "What is associated with Metabolic acidosis?", "seeds": [ "Metabolic acidosis" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13806", "question": "What is associated with Renal arteriole medial hypertrophy?", "seeds": [ "Renal arteriole medial hypertrophy" ], "gold_answer": "Abnormal renal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13807", "question": "What is associated with Angioid streaks?", "seeds": [ "Angioid streaks" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13808", "question": "What is associated with Protoporphyria, erythropoietic, 2?", "seeds": [ "Protoporphyria, erythropoietic, 2" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13809", "question": "What phenotype is associated with Craniofacioskeletal syndrome?", "seeds": [ "Craniofacioskeletal syndrome" ], "gold_answer": "Highly arched eyebrow", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13810", "question": "What is associated with Stroke?", "seeds": [ "Stroke" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13811", "question": "What is associated with Ring dermoid of cornea?", "seeds": [ "Ring dermoid of cornea" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13812", "question": "What is associated with Abnormality of fluid regulation?", "seeds": [ "Abnormality of fluid regulation" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13813", "question": "What is associated with Focal aware vocal automatism seizure?", "seeds": [ "Focal aware vocal automatism seizure" ], "gold_answer": "Focal aware automatism seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13814", "question": "What phenotype is associated with Lassa fever?", "seeds": [ "Lassa fever" ], "gold_answer": "Abdominal pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13815", "question": "What is associated with Complete duplication of the phalanges of the 3rd finger?", "seeds": [ "Complete duplication of the phalanges of the 3rd finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13816", "question": "What is associated with Bile duct polyp?", "seeds": [ "Bile duct polyp" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13817", "question": "What is associated with Glaucoma 1, open angle, P?", "seeds": [ "Glaucoma 1, open angle, P" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13818", "question": "What is associated with Canine teeth, absence of upper permanent?", "seeds": [ "Canine teeth, absence of upper permanent" ], "gold_answer": "Tooth agenesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13819", "question": "What is associated with Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy?", "seeds": [ "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13820", "question": "What is associated with Polydactyly affecting the 2nd finger?", "seeds": [ "Polydactyly affecting the 2nd finger" ], "gold_answer": "Mesoaxial hand polydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13821", "question": "What is associated with Joubert syndrome 1?", "seeds": [ "Joubert syndrome 1" ], "gold_answer": "Meningocele", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13822", "question": "What is associated with Lewy bodies?", "seeds": [ "Lewy bodies" ], "gold_answer": "Cerebral inclusion bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13823", "question": "What is associated with Ipsilateral lack of facial sweating?", "seeds": [ "Ipsilateral lack of facial sweating" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13824", "question": "What is associated with Fetal onset?", "seeds": [ "Fetal onset" ], "gold_answer": "Clinical course", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13825", "question": "What is associated with Elevated circulating 3-hydroxyisovalerylcarnitine concentration?", "seeds": [ "Elevated circulating 3-hydroxyisovalerylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13826", "question": "What is associated with Progressive bowing of long bones?", "seeds": [ "Progressive bowing of long bones" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13827", "question": "What is associated with Parosmia?", "seeds": [ "Parosmia" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13828", "question": "What is associated with Phacoanaphylactic uveitis?", "seeds": [ "Phacoanaphylactic uveitis" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13829", "question": "What is associated with Ossifying fibroma?", "seeds": [ "Ossifying fibroma" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13830", "question": "What is associated with History of recent trauma to external ear canal?", "seeds": [ "History of recent trauma to external ear canal" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13831", "question": "What is associated with Lichen planopilaris?", "seeds": [ "Lichen planopilaris" ], "gold_answer": "Hypopigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13832", "question": "What is associated with Paroxysmal tachycardia?", "seeds": [ "Paroxysmal tachycardia" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13833", "question": "What is associated with Abnormal Humphrey SITA 30-2 perimetry test?", "seeds": [ "Abnormal Humphrey SITA 30-2 perimetry test" ], "gold_answer": "Abnormal static automated perimetry test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13834", "question": "What is associated with Ataxia, sensory, autosomal dominant?", "seeds": [ "Ataxia, sensory, autosomal dominant" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13835", "question": "What is associated with Omphalocele?", "seeds": [ "Omphalocele" ], "gold_answer": "Hernia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13836", "question": "What is associated with Ainhum?", "seeds": [ "Ainhum" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13837", "question": "What is associated with Secretory adrenocortical adenoma?", "seeds": [ "Secretory adrenocortical adenoma" ], "gold_answer": "Neoplasm of the adrenal gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13838", "question": "What is associated with Broad nail?", "seeds": [ "Broad nail" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13839", "question": "What is associated with Paratracheal lymphadenopathy?", "seeds": [ "Paratracheal lymphadenopathy" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13840", "question": "What is associated with Illusions due to affect?", "seeds": [ "Illusions due to affect" ], "gold_answer": "Abnormal interpretation of external stimuli", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13841", "question": "What phenotype is associated with Hypobetalipoproteinemia, familial, 1?", "seeds": [ "Hypobetalipoproteinemia, familial, 1" ], "gold_answer": "Acanthocytosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13842", "question": "What is associated with Increased urinary non-proteinogenic amino acid level?", "seeds": [ "Increased urinary non-proteinogenic amino acid level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13843", "question": "What is associated with Congenital fibrosis of extraocular muscles?", "seeds": [ "Congenital fibrosis of extraocular muscles" ], "gold_answer": "Focal dystonia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13844", "question": "What is associated with Triggered by excitement?", "seeds": [ "Triggered by excitement" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13845", "question": "What is associated with Keratoconus 8?", "seeds": [ "Keratoconus 8" ], "gold_answer": "Increased corneal curvature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13846", "question": "What phenotype is associated with Avascular necrosis of femoral head, primary, 1?", "seeds": [ "Avascular necrosis of femoral head, primary, 1" ], "gold_answer": "Avascular necrosis of the capital femoral epiphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13847", "question": "What is associated with Anemia, autoimmune hemolytic?", "seeds": [ "Anemia, autoimmune hemolytic" ], "gold_answer": "Anemia due to reduced life span of red cells", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13848", "question": "What is associated with Optic atrophy from cranial nerve compression?", "seeds": [ "Optic atrophy from cranial nerve compression" ], "gold_answer": "Abnormal cranial nerve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13849", "question": "What is associated with Impaired convulxin-induced platelet aggregation?", "seeds": [ "Impaired convulxin-induced platelet aggregation" ], "gold_answer": "Impaired platelet aggregation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13850", "question": "What phenotype is associated with Spermatogenic failure 78?", "seeds": [ "Spermatogenic failure 78" ], "gold_answer": "Repeated implantation failure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13851", "question": "What is associated with Congenital smooth muscle hamartoma with or without hemihypertrophy?", "seeds": [ "Congenital smooth muscle hamartoma with or without hemihypertrophy" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13852", "question": "What is associated with Lissencephaly 9 with complex brainstem malformation?", "seeds": [ "Lissencephaly 9 with complex brainstem malformation" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13853", "question": "What is associated with Insulin receptor antibody positivity?", "seeds": [ "Insulin receptor antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13854", "question": "What is associated with Multiple cutaneous malignancies?", "seeds": [ "Multiple cutaneous malignancies" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13855", "question": "What is associated with Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis?", "seeds": [ "Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13856", "question": "What is associated with Eosinophilic microabscess formation in the esophagus?", "seeds": [ "Eosinophilic microabscess formation in the esophagus" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13857", "question": "What is associated with Rectal perforation?", "seeds": [ "Rectal perforation" ], "gold_answer": "Intestinal perforation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13858", "question": "What is associated with Profound sensorineural hearing impairment?", "seeds": [ "Profound sensorineural hearing impairment" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13859", "question": "What is associated with Abnormal kinin-kallikrein system component activity?", "seeds": [ "Abnormal kinin-kallikrein system component activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13860", "question": "What is associated with Osteoarthritis?", "seeds": [ "Osteoarthritis" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13861", "question": "What is associated with Pachygyria with 5-10 mm cortical thickness?", "seeds": [ "Pachygyria with 5-10 mm cortical thickness" ], "gold_answer": "Lissencephaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13862", "question": "What is associated with Polyclonal elevated circulating IgE concentration?", "seeds": [ "Polyclonal elevated circulating IgE concentration" ], "gold_answer": "Increased circulating IgE concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13863", "question": "What is associated with Enhanced ristocetin cofactor assay activity?", "seeds": [ "Enhanced ristocetin cofactor assay activity" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13864", "question": "What is associated with Bardet-Biedl syndrome 21?", "seeds": [ "Bardet-Biedl syndrome 21" ], "gold_answer": "Hand polydactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13865", "question": "What phenotype is associated with Kindler epidermolysis bullosa?", "seeds": [ "Kindler epidermolysis bullosa" ], "gold_answer": "Corneal opacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13866", "question": "What is associated with Abnormal fetal long-bone echogenicity?", "seeds": [ "Abnormal fetal long-bone echogenicity" ], "gold_answer": "Fetal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13867", "question": "What is associated with Palatal tremor?", "seeds": [ "Palatal tremor" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13868", "question": "What is associated with Delayed self-feeding during toddler years?", "seeds": [ "Delayed self-feeding during toddler years" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13869", "question": "What is associated with Complete duplication of the middle phalanx of the 2nd toe?", "seeds": [ "Complete duplication of the middle phalanx of the 2nd toe" ], "gold_answer": "Duplication of the middle phalanx of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13870", "question": "What is associated with Aplasia/Hypoplasia of the distal phalanx of the hallux?", "seeds": [ "Aplasia/Hypoplasia of the distal phalanx of the hallux" ], "gold_answer": "Aplasia/Hypoplasia of toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13871", "question": "What is associated with Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis?", "seeds": [ "Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis" ], "gold_answer": "Double outlet right ventricle", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13872", "question": "What phenotype is associated with Meckel syndrome?", "seeds": [ "Meckel syndrome" ], "gold_answer": "Hyposmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13873", "question": "What is associated with Epsilon wave?", "seeds": [ "Epsilon wave" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13874", "question": "What phenotype is associated with Essential fructosuria?", "seeds": [ "Essential fructosuria" ], "gold_answer": "Abnormal erythrocyte enzyme activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13875", "question": "What is associated with Complete duplication of the distal phalanx of the 4th toe?", "seeds": [ "Complete duplication of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormality of the phalanges of the 4th toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13876", "question": "What is associated with Autosomal recessive spastic paraplegia type 23?", "seeds": [ "Autosomal recessive spastic paraplegia type 23" ], "gold_answer": "Irregular hyperpigmentation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13877", "question": "What is associated with Abnormal cardiac catheterization?", "seeds": [ "Abnormal cardiac catheterization" ], "gold_answer": "Abnormal cardiac test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13878", "question": "What is associated with Abnormal periodontium morphology?", "seeds": [ "Abnormal periodontium morphology" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13879", "question": "What is associated with Pyriform sperm head?", "seeds": [ "Pyriform sperm head" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13880", "question": "What is associated with Large carpal bones?", "seeds": [ "Large carpal bones" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13881", "question": "What is associated with Myopathy, myofibrillar, 1?", "seeds": [ "Myopathy, myofibrillar, 1" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13882", "question": "What is associated with Atresia of the external auditory canal?", "seeds": [ "Atresia of the external auditory canal" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13883", "question": "What is associated with CIDEC-related familial partial lipodystrophy?", "seeds": [ "CIDEC-related familial partial lipodystrophy" ], "gold_answer": "Abnormal glucose homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13884", "question": "What is associated with Abnormal circulating vitamin B12 concentration?", "seeds": [ "Abnormal circulating vitamin B12 concentration" ], "gold_answer": "Abnormality of vitamin metabolism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13885", "question": "What is associated with CADDS?", "seeds": [ "CADDS" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13886", "question": "What is associated with Moderate oligozoospermia?", "seeds": [ "Moderate oligozoospermia" ], "gold_answer": "Abnormal spermatogenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13887", "question": "What phenotype is associated with Familial idiopathic steroid-resistant nephrotic syndrome?", "seeds": [ "Familial idiopathic steroid-resistant nephrotic syndrome" ], "gold_answer": "Nephrotic syndrome", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13888", "question": "What is associated with Prominent crus of helix?", "seeds": [ "Prominent crus of helix" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13889", "question": "What is associated with Immunodeficiency due to ficolin 3 deficiency?", "seeds": [ "Immunodeficiency due to ficolin 3 deficiency" ], "gold_answer": "Colitis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13890", "question": "What is associated with Renal medullary pyramid hypoplasia?", "seeds": [ "Renal medullary pyramid hypoplasia" ], "gold_answer": "Abnormal medullary pyramid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13891", "question": "What phenotype is associated with Anterior segment dysgenesis 2?", "seeds": [ "Anterior segment dysgenesis 2" ], "gold_answer": "Ocular hypertension", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13892", "question": "What is associated with Renal caliceal diverticuli-deafness syndrome?", "seeds": [ "Renal caliceal diverticuli-deafness syndrome" ], "gold_answer": "Abnormality of the ureter", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13893", "question": "What is associated with Decreased serum thromboxane B2?", "seeds": [ "Decreased serum thromboxane B2" ], "gold_answer": "Abnormal circulating unsaturated fatty acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13894", "question": "What is associated with Agenesis of the small intestine?", "seeds": [ "Agenesis of the small intestine" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13895", "question": "What is associated with Migraine, familial typical, susceptibility to, 2?", "seeds": [ "Migraine, familial typical, susceptibility to, 2" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13896", "question": "What is associated with Extensor tendons of finger anomalies?", "seeds": [ "Extensor tendons of finger anomalies" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13897", "question": "What is associated with Cogwheel rigidity?", "seeds": [ "Cogwheel rigidity" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13898", "question": "What is associated with Abolished vibration sense?", "seeds": [ "Abolished vibration sense" ], "gold_answer": "Impaired vibratory sensation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13899", "question": "What is associated with Hopelessness?", "seeds": [ "Hopelessness" ], "gold_answer": "Disorder of thought content", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13900", "question": "What is associated with Anti-Complement factor H antibody positivity?", "seeds": [ "Anti-Complement factor H antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13901", "question": "What is associated with Hypermethioninemia encephalopathy due to adenosine kinase deficiency?", "seeds": [ "Hypermethioninemia encephalopathy due to adenosine kinase deficiency" ], "gold_answer": "ADK", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_train_13902", "question": "What is associated with Aneurysm, intracranial berry, 2?", "seeds": [ "Aneurysm, intracranial berry, 2" ], "gold_answer": "Abnormal subarachnoid space morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13903", "question": "What is associated with Autosomal dominant generalized dystrophic epidermolysis bullosa?", "seeds": [ "Autosomal dominant generalized dystrophic epidermolysis bullosa" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13904", "question": "What is associated with Mitral chordae tendinae rupture?", "seeds": [ "Mitral chordae tendinae rupture" ], "gold_answer": "Abnormal morphology of the chordae tendinae of the mitral valve", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13905", "question": "What is associated with Lecithin:cholesterol acyltransferase deficiency?", "seeds": [ "Lecithin:cholesterol acyltransferase deficiency" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13906", "question": "What is associated with Protruding coccyx?", "seeds": [ "Protruding coccyx" ], "gold_answer": "Abnormal coccyx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13907", "question": "What is associated with Mucolipidosis IV?", "seeds": [ "Mucolipidosis IV" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13908", "question": "What is associated with Ulnar deviation of the hand?", "seeds": [ "Ulnar deviation of the hand" ], "gold_answer": "Ulnar deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13909", "question": "What phenotype is associated with Spinocerebellar ataxia type 35?", "seeds": [ "Spinocerebellar ataxia type 35" ], "gold_answer": "Gait ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13910", "question": "What is associated with Duplication of metatarsal bones?", "seeds": [ "Duplication of metatarsal bones" ], "gold_answer": "Duplication involving bones of the feet", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13911", "question": "What is associated with Erythematous papule?", "seeds": [ "Erythematous papule" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13912", "question": "What is associated with Hurler-Scheie syndrome?", "seeds": [ "Hurler-Scheie syndrome" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13913", "question": "What is associated with Renal tubular epithelial cell simplification?", "seeds": [ "Renal tubular epithelial cell simplification" ], "gold_answer": "Abnormal renal tubular epithelial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13914", "question": "What phenotype is associated with Imagawa-Matsumoto syndrome?", "seeds": [ "Imagawa-Matsumoto syndrome" ], "gold_answer": "Melanocytic nevus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13915", "question": "What is associated with Sclerosis of the middle phalanx of the 5th finger?", "seeds": [ "Sclerosis of the middle phalanx of the 5th finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13916", "question": "What phenotype is associated with Mandibulofacial dysostosis-microcephaly syndrome?", "seeds": [ "Mandibulofacial dysostosis-microcephaly syndrome" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13917", "question": "What is associated with Abnormal circulating retinol-binding protein concentration?", "seeds": [ "Abnormal circulating retinol-binding protein concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13918", "question": "What is associated with Mild global developmental delay?", "seeds": [ "Mild global developmental delay" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13919", "question": "What phenotype is associated with Perlman syndrome?", "seeds": [ "Perlman syndrome" ], "gold_answer": "Abnormal uterus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13920", "question": "What phenotype is associated with Cardioneuromyopathy with hyaline masses and nemaline rods?", "seeds": [ "Cardioneuromyopathy with hyaline masses and nemaline rods" ], "gold_answer": "Respiratory insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13921", "question": "What is associated with Abnormal hair whorl?", "seeds": [ "Abnormal hair whorl" ], "gold_answer": "Congenital abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13922", "question": "What is associated with EEG with focal sharp waves?", "seeds": [ "EEG with focal sharp waves" ], "gold_answer": "EEG with focal epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13923", "question": "What is associated with Truncal location?", "seeds": [ "Truncal location" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13924", "question": "What is associated with Blunted aldosterone response to aldosterone suppression test?", "seeds": [ "Blunted aldosterone response to aldosterone suppression test" ], "gold_answer": "Abnormal endocrine physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13925", "question": "What is associated with Increased regulatory T cell proportion?", "seeds": [ "Increased regulatory T cell proportion" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13926", "question": "What is associated with Hereditary thrombophilia due to congenital antithrombin deficiency?", "seeds": [ "Hereditary thrombophilia due to congenital antithrombin deficiency" ], "gold_answer": "Splanchnic vein thrombosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13927", "question": "What is associated with Large for gestational age?", "seeds": [ "Large for gestational age" ], "gold_answer": "Increased body weight", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13928", "question": "What phenotype is associated with Imerslund-Grasbeck syndrome 2?", "seeds": [ "Imerslund-Grasbeck syndrome 2" ], "gold_answer": "Decreased circulating vitamin B12 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13929", "question": "What is associated with Dermal microfilaria?", "seeds": [ "Dermal microfilaria" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13930", "question": "What is associated with Compression-fractured cervical vertebra?", "seeds": [ "Compression-fractured cervical vertebra" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13931", "question": "What phenotype is associated with Deafness, autosomal dominant 4B?", "seeds": [ "Deafness, autosomal dominant 4B" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13932", "question": "What is associated with Hyperchromic macrocytic anemia?", "seeds": [ "Hyperchromic macrocytic anemia" ], "gold_answer": "Macrocytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13933", "question": "What is associated with Absent right superior vena cava?", "seeds": [ "Absent right superior vena cava" ], "gold_answer": "Abnormal vena cava morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13934", "question": "What is associated with Generalized periodontitis?", "seeds": [ "Generalized periodontitis" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13935", "question": "What is associated with Myopia 6?", "seeds": [ "Myopia 6" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13936", "question": "What phenotype is associated with Hypophosphatasia, infantile?", "seeds": [ "Hypophosphatasia, infantile" ], "gold_answer": "Elevated plasma pyrophosphate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13937", "question": "What is associated with Ingrown nail?", "seeds": [ "Ingrown nail" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13938", "question": "What is associated with Redundant umbilical skin?", "seeds": [ "Redundant umbilical skin" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13939", "question": "What is associated with Decreased motor nerve conduction velocity?", "seeds": [ "Decreased motor nerve conduction velocity" ], "gold_answer": "Abnormality of peripheral nerve conduction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13940", "question": "What is associated with Binge drinking?", "seeds": [ "Binge drinking" ], "gold_answer": "Abnormal alcohol consumption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13941", "question": "What is associated with Oocyte/zygote/embryo maturation arrest 20?", "seeds": [ "Oocyte/zygote/embryo maturation arrest 20" ], "gold_answer": "Decreased fertility in females", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13942", "question": "What is associated with Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency?", "seeds": [ "Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency" ], "gold_answer": "ARHGEF1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13943", "question": "What is associated with Tetraamelia?", "seeds": [ "Tetraamelia" ], "gold_answer": "Amelia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13944", "question": "What is associated with Increased red cell osmotic resistance?", "seeds": [ "Increased red cell osmotic resistance" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13945", "question": "What is associated with Focal cognitive seizure with deja vu/jamais vu?", "seeds": [ "Focal cognitive seizure with deja vu/jamais vu" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13946", "question": "What phenotype is associated with Congenital contractural arachnodactyly?", "seeds": [ "Congenital contractural arachnodactyly" ], "gold_answer": "Arachnodactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13947", "question": "What is associated with Peripheral neuropathy?", "seeds": [ "Peripheral neuropathy" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13948", "question": "What is associated with Abnormal adiponectin level?", "seeds": [ "Abnormal adiponectin level" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13949", "question": "What is associated with Autoscopy?", "seeds": [ "Autoscopy" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13950", "question": "What is associated with Square humeral metaphysis?", "seeds": [ "Square humeral metaphysis" ], "gold_answer": "Abnormal humeral metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13951", "question": "What is associated with Right ventricular outlet tract obstruction?", "seeds": [ "Right ventricular outlet tract obstruction" ], "gold_answer": "Abnormal cardiac ventricular function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13952", "question": "What is associated with Hypnagogic sleep paralysis?", "seeds": [ "Hypnagogic sleep paralysis" ], "gold_answer": "Sleep paralysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13953", "question": "What phenotype is associated with Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4" ], "gold_answer": "Generalized muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13954", "question": "What is associated with Chromosome 6q25-q25 deletion syndrome?", "seeds": [ "Chromosome 6q25-q25 deletion syndrome" ], "gold_answer": "Abnormal tricuspid valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13955", "question": "What is associated with Dystonia 33?", "seeds": [ "Dystonia 33" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13956", "question": "What is associated with Bone marrow xanthomatosis?", "seeds": [ "Bone marrow xanthomatosis" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13957", "question": "What is associated with Paroxysmal nocturnal dyspnea?", "seeds": [ "Paroxysmal nocturnal dyspnea" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13958", "question": "What is associated with Impaired renal tubular reabsorption of magnesium?", "seeds": [ "Impaired renal tubular reabsorption of magnesium" ], "gold_answer": "Abnormal renal tubular resorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13959", "question": "What phenotype is associated with Waardenburg syndrome, type 4C?", "seeds": [ "Waardenburg syndrome, type 4C" ], "gold_answer": "Hypopigmented skin patches", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13960", "question": "What is associated with Exposure to inhaled lipids?", "seeds": [ "Exposure to inhaled lipids" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13961", "question": "What is associated with Cardiac sarcoma?", "seeds": [ "Cardiac sarcoma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13962", "question": "What is associated with Presacral teratoma?", "seeds": [ "Presacral teratoma" ], "gold_answer": "Teratoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13963", "question": "What is associated with Abnormal circulating long-chain fatty-acid concentration?", "seeds": [ "Abnormal circulating long-chain fatty-acid concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13964", "question": "What is associated with Myelodysplastic syndrome?", "seeds": [ "Myelodysplastic syndrome" ], "gold_answer": "TP53", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_train_13965", "question": "What is associated with Acute?", "seeds": [ "Acute" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13966", "question": "What phenotype is associated with Spastic paraplegia 9B, autosomal recessive?", "seeds": [ "Spastic paraplegia 9B, autosomal recessive" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13967", "question": "What is associated with Abnormal brain choline/creatine ratio by MRS?", "seeds": [ "Abnormal brain choline/creatine ratio by MRS" ], "gold_answer": "Abnormal metabolic brain imaging by MRS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13968", "question": "What is associated with Dystonic gait?", "seeds": [ "Dystonic gait" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13969", "question": "What is associated with Late-onset nephronophthisis?", "seeds": [ "Late-onset nephronophthisis" ], "gold_answer": "XPNPEP3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13970", "question": "What is associated with Abnormality of the distal phalanx of the 4th toe?", "seeds": [ "Abnormality of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13971", "question": "What is associated with Short phalanx of the 2nd toe?", "seeds": [ "Short phalanx of the 2nd toe" ], "gold_answer": "Absent toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13972", "question": "What is associated with Cone-shaped epiphysis of the middle phalanx of the 5th finger?", "seeds": [ "Cone-shaped epiphysis of the middle phalanx of the 5th finger" ], "gold_answer": "Cone-shaped epiphyses of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13973", "question": "What is associated with Cardiac lipidosis, familial?", "seeds": [ "Cardiac lipidosis, familial" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13974", "question": "What is associated with Focal automatism seizure?", "seeds": [ "Focal automatism seizure" ], "gold_answer": "Focal motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13975", "question": "What is associated with Proximal fourth finger symphalangism?", "seeds": [ "Proximal fourth finger symphalangism" ], "gold_answer": "Proximal finger symphalangism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13976", "question": "What is associated with Pachyonychia congenita 4?", "seeds": [ "Pachyonychia congenita 4" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13977", "question": "What is associated with Contracture of the distal interphalangeal joint of the 2nd toe?", "seeds": [ "Contracture of the distal interphalangeal joint of the 2nd toe" ], "gold_answer": "Flexion contracture of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13978", "question": "What is associated with Bickerstaff brainstem encephalitis?", "seeds": [ "Bickerstaff brainstem encephalitis" ], "gold_answer": "Abnormal blood gas level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13979", "question": "What is associated with Vein of Galen aneurysmal malformation?", "seeds": [ "Vein of Galen aneurysmal malformation" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13980", "question": "What is associated with Idiopathic ventricular fibrillation?", "seeds": [ "Idiopathic ventricular fibrillation" ], "gold_answer": "SCN5A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13981", "question": "What is associated with Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form?", "seeds": [ "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" ], "gold_answer": "GBE1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_train_13982", "question": "What is associated with Aicardi-Goutieres syndrome 9?", "seeds": [ "Aicardi-Goutieres syndrome 9" ], "gold_answer": "Abnormal choroid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13983", "question": "What is associated with Abnormal erythrocyte enzyme concentration or activity?", "seeds": [ "Abnormal erythrocyte enzyme concentration or activity" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13984", "question": "What is associated with Small epiphysis of the proximal phalanx of the 5th finger?", "seeds": [ "Small epiphysis of the proximal phalanx of the 5th finger" ], "gold_answer": "Abnormal 5th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13985", "question": "What phenotype is associated with Congenital disorder of glycosylation, type IIj?", "seeds": [ "Congenital disorder of glycosylation, type IIj" ], "gold_answer": "Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13986", "question": "What is associated with Decreased total B cell count?", "seeds": [ "Decreased total B cell count" ], "gold_answer": "Abnormal total B cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13987", "question": "What is associated with Pigmentary retinopathy?", "seeds": [ "Pigmentary retinopathy" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13988", "question": "What phenotype is associated with Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome?", "seeds": [ "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" ], "gold_answer": "Hypsarrhythmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13989", "question": "What is associated with Prenatal bowing?", "seeds": [ "Prenatal bowing" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13990", "question": "What is associated with Excessive bleeding from superficial cuts?", "seeds": [ "Excessive bleeding from superficial cuts" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13991", "question": "What is associated with Duodenal gastric metaplasia?", "seeds": [ "Duodenal gastric metaplasia" ], "gold_answer": "Abnormal small intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13992", "question": "What phenotype is associated with Spermatogenic failure 59?", "seeds": [ "Spermatogenic failure 59" ], "gold_answer": "Male infertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13993", "question": "What phenotype is associated with Arteries, anomalies of?", "seeds": [ "Arteries, anomalies of" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_train_13994", "question": "What is associated with Abnormal female meiosis?", "seeds": [ "Abnormal female meiosis" ], "gold_answer": "Abnormal meiosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_train_13995", "question": "What is associated with Hypoplasia of olfactory tract?", "seeds": [ "Hypoplasia of olfactory tract" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13996", "question": "What is associated with Elevated CSF dihydrobiopterin concentration?", "seeds": [ "Elevated CSF dihydrobiopterin concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13997", "question": "What is associated with Anteroposteriorly shortened larynx?", "seeds": [ "Anteroposteriorly shortened larynx" ], "gold_answer": "Abnormality of the larynx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_train_13998", "question": "What is associated with Abnormal ethmoid bone morphology?", "seeds": [ "Abnormal ethmoid bone morphology" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_train_13999", "question": "What is associated with Duodenal ulcer?", "seeds": [ "Duodenal ulcer" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } } ]