[ { "query_id": "orph_test_00000", "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_test_00001", "question": "What is associated with Oral erythroplakia?", "seeds": [ "Oral erythroplakia" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00002", "question": "What is associated with Mirror image polydactyly?", "seeds": [ "Mirror image polydactyly" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00003", "question": "What is associated with Retinal degeneration-nanophthalmos-glaucoma syndrome?", "seeds": [ "Retinal degeneration-nanophthalmos-glaucoma syndrome" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00004", "question": "What is associated with Floating gallbladder?", "seeds": [ "Floating gallbladder" ], "gold_answer": "Abnormality of the gallbladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00005", "question": "What is associated with Prolonged partial thromboplastin time?", "seeds": [ "Prolonged partial thromboplastin time" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00006", "question": "What is associated with Pulmonary aterial intimal fibrosis?", "seeds": [ "Pulmonary aterial intimal fibrosis" ], "gold_answer": "Abnormal pulmonary artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00007", "question": "What is associated with Brown syndrome?", "seeds": [ "Brown syndrome" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00008", "question": "What is associated with Griscelli syndrome type 3?", "seeds": [ "Griscelli syndrome type 3" ], "gold_answer": "Abnormality of hair pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00009", "question": "What phenotype is associated with Bethlem myopathy 2?", "seeds": [ "Bethlem myopathy 2" ], "gold_answer": "Proximal muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00010", "question": "What is associated with Microcephaly, primary autosomal recessive, 1?", "seeds": [ "Microcephaly, primary autosomal recessive, 1" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00011", "question": "What is associated with Congenital giant melanocytic nevus?", "seeds": [ "Congenital giant melanocytic nevus" ], "gold_answer": "Nevus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00012", "question": "What is associated with Scissor gait?", "seeds": [ "Scissor gait" ], "gold_answer": "Spastic paraparetic gait", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00013", "question": "What is associated with Acute disseminated intravascular coagulation?", "seeds": [ "Acute disseminated intravascular coagulation" ], "gold_answer": "Disseminated intravascular coagulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00014", "question": "What is associated with Sparse bone trabeculae?", "seeds": [ "Sparse bone trabeculae" ], "gold_answer": "Abnormal bone structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00015", "question": "What is associated with Saccular aortic arch aneurysm?", "seeds": [ "Saccular aortic arch aneurysm" ], "gold_answer": "Aortic arch aneurysm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00016", "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_test_00017", "question": "What is associated with Sloping humeral metaphysis?", "seeds": [ "Sloping humeral metaphysis" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00018", "question": "What is associated with Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy?", "seeds": [ "Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy" ], "gold_answer": "Abnormal pupillary function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00019", "question": "What is associated with Fatigable weakness of swallowing muscles?", "seeds": [ "Fatigable weakness of swallowing muscles" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00020", "question": "What is associated with Sclerosis of thumb phalanx?", "seeds": [ "Sclerosis of thumb phalanx" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00021", "question": "What phenotype is associated with Achromatopsia 4?", "seeds": [ "Achromatopsia 4" ], "gold_answer": "Achromatopsia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00022", "question": "What is associated with Nasal congestion?", "seeds": [ "Nasal congestion" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00023", "question": "What is associated with Diaphragmatic eventration?", "seeds": [ "Diaphragmatic eventration" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00024", "question": "What is associated with Thumb deformity-alopecia-pigmentation anomaly syndrome?", "seeds": [ "Thumb deformity-alopecia-pigmentation anomaly syndrome" ], "gold_answer": "Syndactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00025", "question": "What is associated with Brain abscess?", "seeds": [ "Brain abscess" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00026", "question": "What is associated with Toxemia of pregnancy?", "seeds": [ "Toxemia of pregnancy" ], "gold_answer": "Pregnancy history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00027", "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_test_00028", "question": "What is associated with Autoimmune hepatitis?", "seeds": [ "Autoimmune hepatitis" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00029", "question": "What phenotype is associated with Björnstad syndrome?", "seeds": [ "Björnstad syndrome" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00030", "question": "What is associated with Sandhoff disease?", "seeds": [ "Sandhoff disease" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00031", "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_test_00032", "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_test_00033", "question": "What is associated with Endogenous lipoid pneumonia?", "seeds": [ "Endogenous lipoid pneumonia" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00034", "question": "What is associated with Mucinous colorectal carcinoma?", "seeds": [ "Mucinous colorectal carcinoma" ], "gold_answer": "Glandular cell neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00035", "question": "What is associated with Milroy disease?", "seeds": [ "Milroy disease" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00036", "question": "What phenotype is associated with Achondrogenesis, type IB?", "seeds": [ "Achondrogenesis, type IB" ], "gold_answer": "Generalized edema", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00037", "question": "What is associated with Fractured manual digit bone?", "seeds": [ "Fractured manual digit bone" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00038", "question": "What phenotype 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": "Small forehead", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00039", "question": "What is associated with Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis?", "seeds": [ "Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00040", "question": "What phenotype is associated with 2q37 microdeletion syndrome?", "seeds": [ "2q37 microdeletion syndrome" ], "gold_answer": "Thin vermilion border", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00041", "question": "What phenotype is associated with Cardiac, facial, and digital anomalies with developmental delay?", "seeds": [ "Cardiac, facial, and digital anomalies with developmental delay" ], "gold_answer": "Unusual CNS infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00042", "question": "What is associated with Splenic rupture?", "seeds": [ "Splenic rupture" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00043", "question": "What phenotype is associated with Neutropenia, severe congenital, 8, autosomal dominant?", "seeds": [ "Neutropenia, severe congenital, 8, autosomal dominant" ], "gold_answer": "Short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00044", "question": "What phenotype is associated with Neurodegeneration with brain iron accumulation 1?", "seeds": [ "Neurodegeneration with brain iron accumulation 1" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00045", "question": "What is associated with Microcephaly 3, primary, autosomal recessive?", "seeds": [ "Microcephaly 3, primary, autosomal recessive" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00046", "question": "What is associated with Melanoma-Astrocytoma syndrome?", "seeds": [ "Melanoma-Astrocytoma syndrome" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00047", "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_test_00048", "question": "What is associated with Triggered by vaccination?", "seeds": [ "Triggered by vaccination" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00049", "question": "What is associated with Pulmonary hemorrhage?", "seeds": [ "Pulmonary hemorrhage" ], "gold_answer": "Internal hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00050", "question": "What is associated with Prominent interphalangeal joints?", "seeds": [ "Prominent interphalangeal joints" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00051", "question": "What is associated with Abnormal ovarian morphology?", "seeds": [ "Abnormal ovarian morphology" ], "gold_answer": "Abnormality of the female genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00052", "question": "What is associated with 1-4 finger cutaneous syndactyly?", "seeds": [ "1-4 finger cutaneous syndactyly" ], "gold_answer": "Cutaneous finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00053", "question": "What is associated with Abnormal greater sciatic notch morphology?", "seeds": [ "Abnormal greater sciatic notch morphology" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00054", "question": "What is associated with Nephronophthisis 2?", "seeds": [ "Nephronophthisis 2" ], "gold_answer": "Abnormal circulating potassium concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00055", "question": "What is associated with Mandibulofacial dysostosis?", "seeds": [ "Mandibulofacial dysostosis" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00056", "question": "What phenotype is associated with Ovarian fibromata?", "seeds": [ "Ovarian fibromata" ], "gold_answer": "Ovarian fibroma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00057", "question": "What is associated with Smith-Magenis syndrome?", "seeds": [ "Smith-Magenis syndrome" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00058", "question": "What is associated with Decreased complex N-glycan level?", "seeds": [ "Decreased complex N-glycan level" ], "gold_answer": "Abnormal protein N-linked glycosylation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00059", "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_test_00060", "question": "What is associated with Abnormal circulating immunoglobulin concentration?", "seeds": [ "Abnormal circulating immunoglobulin concentration" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00061", "question": "What is associated with Small epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Small epiphysis of the proximal phalanx of the 4th finger" ], "gold_answer": "Small epiphyses of the 4th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00062", "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_test_00063", "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_test_00064", "question": "What is associated with Hallux dorsiflexion weakness?", "seeds": [ "Hallux dorsiflexion weakness" ], "gold_answer": "Limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00065", "question": "What is associated with Anti-DPPX antibody?", "seeds": [ "Anti-DPPX antibody" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00066", "question": "What is associated with Thumb deformity?", "seeds": [ "Thumb deformity" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00067", "question": "What is associated with Dislocated radial head?", "seeds": [ "Dislocated radial head" ], "gold_answer": "Abnormality of the radial head", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00068", "question": "What is associated with Pulmonic stenosis?", "seeds": [ "Pulmonic stenosis" ], "gold_answer": "Abnormal heart valve physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00069", "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_test_00070", "question": "What is associated with Unilateral deafness?", "seeds": [ "Unilateral deafness" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00071", "question": "What is associated with Myxomatous mitral valve degeneration?", "seeds": [ "Myxomatous mitral valve degeneration" ], "gold_answer": "Mitral valve prolapse", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00072", "question": "What phenotype is associated with Distal deletion 12q syndrome?", "seeds": [ "Distal deletion 12q syndrome" ], "gold_answer": "Subglottic stenosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00073", "question": "What is associated with Chromosome 3q29 deletion syndrome?", "seeds": [ "Chromosome 3q29 deletion syndrome" ], "gold_answer": "Abnormal 5th finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00074", "question": "What is associated with Deep palmar crease?", "seeds": [ "Deep palmar crease" ], "gold_answer": "Abnormality of the palmar creases", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00075", "question": "What is associated with Thickened mitral valve cusp?", "seeds": [ "Thickened mitral valve cusp" ], "gold_answer": "Abnormal mitral valve leaflet morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00076", "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_test_00077", "question": "What phenotype is associated with Alopecia-intellectual disability syndrome 4?", "seeds": [ "Alopecia-intellectual disability syndrome 4" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00078", "question": "What is associated with Carcinoid tumor of the pancreas?", "seeds": [ "Carcinoid tumor of the pancreas" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00079", "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": "Abdominal wall defect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00080", "question": "What is associated with 3-hydroxydicarboxylic aciduria?", "seeds": [ "3-hydroxydicarboxylic aciduria" ], "gold_answer": "Dicarboxylic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00081", "question": "What phenotype is associated with Monosomy 7 myelodysplasia and leukemia syndrome 2?", "seeds": [ "Monosomy 7 myelodysplasia and leukemia syndrome 2" ], "gold_answer": "Decreased total neutrophil count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00082", "question": "What phenotype is associated with Renal agenesis, bilateral?", "seeds": [ "Renal agenesis, bilateral" ], "gold_answer": "Spina bifida", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00083", "question": "What is associated with Hodgkin lymphoma?", "seeds": [ "Hodgkin lymphoma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00084", "question": "What is associated with Broad 2nd toe?", "seeds": [ "Broad 2nd toe" ], "gold_answer": "Broad toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00085", "question": "What phenotype is associated with Citrullinemia, type II, neonatal-onset?", "seeds": [ "Citrullinemia, type II, neonatal-onset" ], "gold_answer": "Mild global developmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00086", "question": "What is associated with Abnormal circulating glutamine family amino acid concentration?", "seeds": [ "Abnormal circulating glutamine family amino acid concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00087", "question": "What is associated with Recurrent bronchopulmonary infections?", "seeds": [ "Recurrent bronchopulmonary infections" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00088", "question": "What is associated with Global developmental delay with or without impaired intellectual development?", "seeds": [ "Global developmental delay with or without impaired intellectual development" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00089", "question": "What is associated with Ascending tubular aorta aneurysm?", "seeds": [ "Ascending tubular aorta aneurysm" ], "gold_answer": "Thoracic aortic aneurysm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00090", "question": "What is associated with Thyroid follicular hyperplasia?", "seeds": [ "Thyroid follicular hyperplasia" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00091", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2II?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2II" ], "gold_answer": "Hand muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00092", "question": "What phenotype is associated with Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7?", "seeds": [ "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7" ], "gold_answer": "Brain atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00093", "question": "What phenotype is associated with NONDISJUNCTION?", "seeds": [ "NONDISJUNCTION" ], "gold_answer": "Abnormality of chromosome segregation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00094", "question": "What phenotype is associated with Athyreosis?", "seeds": [ "Athyreosis" ], "gold_answer": "Facial edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00095", "question": "What is associated with Muscular dystrophy, limb-girdle, type 2D?", "seeds": [ "Muscular dystrophy, limb-girdle, type 2D" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00096", "question": "What is associated with Retinal telangiectasia?", "seeds": [ "Retinal telangiectasia" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00097", "question": "What is associated with Abnormal CSF aspartate family amino acid concentration?", "seeds": [ "Abnormal CSF aspartate family amino acid concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00098", "question": "What is associated with Non-necrotizing pulmonary granulomatosis?", "seeds": [ "Non-necrotizing pulmonary granulomatosis" ], "gold_answer": "Abnormal pulmonary interstitial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00099", "question": "What is associated with Herpetiform?", "seeds": [ "Herpetiform" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00100", "question": "What is associated with Reversible renal failure?", "seeds": [ "Reversible renal failure" ], "gold_answer": "Renal insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00101", "question": "What is associated with Linear earlobe crease?", "seeds": [ "Linear earlobe crease" ], "gold_answer": "Abnormal earlobe morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00102", "question": "What is associated with Fragile X syndrome?", "seeds": [ "Fragile X syndrome" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00103", "question": "What phenotype is associated with Deafness, autosomal recessive 29?", "seeds": [ "Deafness, autosomal recessive 29" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00104", "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 feet", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00105", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 46?", "seeds": [ "Intellectual developmental disorder, X-linked 46" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00106", "question": "What is associated with Mayer-Rokitansky-Kuster-Hauser syndrome?", "seeds": [ "Mayer-Rokitansky-Kuster-Hauser syndrome" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00107", "question": "What is associated with Peroneal tendon subluxation?", "seeds": [ "Peroneal tendon subluxation" ], "gold_answer": "Abnormality of the ankle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00108", "question": "What is associated with Abnormal cortical radial artery lumen morphology?", "seeds": [ "Abnormal cortical radial artery lumen morphology" ], "gold_answer": "Abnormal renal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00109", "question": "What is associated with Neonatal insulin-dependent diabetes mellitus?", "seeds": [ "Neonatal insulin-dependent diabetes mellitus" ], "gold_answer": "Insulin resistance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00110", "question": "What is associated with Skin creases, congenital symmetric circumferential, 1?", "seeds": [ "Skin creases, congenital symmetric circumferential, 1" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00111", "question": "What is associated with Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation?", "seeds": [ "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation" ], "gold_answer": "TFG", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_test_00112", "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_test_00113", "question": "What is associated with Deficiency of N-acetylglucosamine-1-phosphotransferase?", "seeds": [ "Deficiency of N-acetylglucosamine-1-phosphotransferase" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00114", "question": "What phenotype is associated with Lethal congenital contracture syndrome 10?", "seeds": [ "Lethal congenital contracture syndrome 10" ], "gold_answer": "Increased placental thickness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00115", "question": "What is associated with Pseudodiastrophic dysplasia?", "seeds": [ "Pseudodiastrophic dysplasia" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00116", "question": "What is associated with Multicentric ossification of proximal humeral epiphyses?", "seeds": [ "Multicentric ossification of proximal humeral epiphyses" ], "gold_answer": "Abnormal humeral ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00117", "question": "What phenotype is associated with Premature ovarian failure 18?", "seeds": [ "Premature ovarian failure 18" ], "gold_answer": "Premature ovarian insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00118", "question": "What is associated with Microcornea-glaucoma-absent frontal sinuses syndrome?", "seeds": [ "Microcornea-glaucoma-absent frontal sinuses syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the frontal sinuses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00119", "question": "What is associated with Arcuate artery endoarterial hypercellularity?", "seeds": [ "Arcuate artery endoarterial hypercellularity" ], "gold_answer": "Abnormal intrarenal artery morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00120", "question": "What is associated with Chondrodysplasia, Blomstrand type?", "seeds": [ "Chondrodysplasia, Blomstrand type" ], "gold_answer": "Abnormal larynx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00121", "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_test_00122", "question": "What is associated with Abnormality of bone marrow stromal cells?", "seeds": [ "Abnormality of bone marrow stromal cells" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00123", "question": "What is associated with Abnormal isohemagglutinin level?", "seeds": [ "Abnormal isohemagglutinin level" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00124", "question": "What is associated with Thickened intrahepatic portal venules?", "seeds": [ "Thickened intrahepatic portal venules" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00125", "question": "What is associated with Abnormal sperm neck morphology?", "seeds": [ "Abnormal sperm neck morphology" ], "gold_answer": "Abnormal germ cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00126", "question": "What is associated with Absent pulmonary artery?", "seeds": [ "Absent pulmonary artery" ], "gold_answer": "Abnormal pulmonary artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00127", "question": "What is associated with Dystonia 17, torsion, autosomal recessive?", "seeds": [ "Dystonia 17, torsion, autosomal recessive" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00128", "question": "What is associated with Absence of acoustic reflex?", "seeds": [ "Absence of acoustic reflex" ], "gold_answer": "Abnormality of the acoustic reflex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00129", "question": "What phenotype is associated with Retinitis pigmentosa 10?", "seeds": [ "Retinitis pigmentosa 10" ], "gold_answer": "Optic disc pallor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00130", "question": "What is associated with Macular dots?", "seeds": [ "Macular dots" ], "gold_answer": "Yellow/white macular lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00131", "question": "What is associated with Arthrogryposis multiplex congenita 5?", "seeds": [ "Arthrogryposis multiplex congenita 5" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00132", "question": "What is associated with Sloping humeral metaphysis?", "seeds": [ "Sloping humeral metaphysis" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00133", "question": "What is associated with Microangiopathy and leukoencephalopathy, pontine, autosomal dominant?", "seeds": [ "Microangiopathy and leukoencephalopathy, pontine, autosomal dominant" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00134", "question": "What is associated with Increased multinucleated megakaryocyte count?", "seeds": [ "Increased multinucleated megakaryocyte count" ], "gold_answer": "Abnormal megakaryocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00135", "question": "What is associated with Localized skin lesion?", "seeds": [ "Localized skin lesion" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00136", "question": "What phenotype is associated with Platyspondylic dysplasia, Torrance type?", "seeds": [ "Platyspondylic dysplasia, Torrance type" ], "gold_answer": "Depressed nasal bridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00137", "question": "What is associated with Esophageal furrows?", "seeds": [ "Esophageal furrows" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00138", "question": "What is associated with Lissencephaly 9 with complex brainstem malformation?", "seeds": [ "Lissencephaly 9 with complex brainstem malformation" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00139", "question": "What is associated with Fetal cerebellar vermis hemorrhage?", "seeds": [ "Fetal cerebellar vermis hemorrhage" ], "gold_answer": "Fetal intracranial hemorrhage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00140", "question": "What phenotype is associated with Patella aplasia-hypoplasia?", "seeds": [ "Patella aplasia-hypoplasia" ], "gold_answer": "Patellar hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00141", "question": "What is associated with Anti-mitochondrial M2 antibody positivity?", "seeds": [ "Anti-mitochondrial M2 antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00142", "question": "What is associated with EEG with generalized spikes?", "seeds": [ "EEG with generalized spikes" ], "gold_answer": "EEG with generalized epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00143", "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_test_00144", "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_test_00145", "question": "What is associated with Pulmonary infiltrates?", "seeds": [ "Pulmonary infiltrates" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00146", "question": "What is associated with Pulmonary hypertension, primary, 4?", "seeds": [ "Pulmonary hypertension, primary, 4" ], "gold_answer": "Bundle branch block", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00147", "question": "What is associated with Marie Unna hereditary hypotrichosis?", "seeds": [ "Marie Unna hereditary hypotrichosis" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00148", "question": "What phenotype is associated with Hereditary angioedema with C1Inh deficiency?", "seeds": [ "Hereditary angioedema with C1Inh deficiency" ], "gold_answer": "Diarrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00149", "question": "What phenotype is associated with Chromosome 16q12 duplication syndrome?", "seeds": [ "Chromosome 16q12 duplication syndrome" ], "gold_answer": "Temporal optic disc pallor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00150", "question": "What is associated with Thyroglossal cyst?", "seeds": [ "Thyroglossal cyst" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00151", "question": "What is associated with Elevated circulating methysterol concentration?", "seeds": [ "Elevated circulating methysterol concentration" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00152", "question": "What is associated with Epilepsy, familial adult myoclonic, 4?", "seeds": [ "Epilepsy, familial adult myoclonic, 4" ], "gold_answer": "Abnormal nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00153", "question": "What is associated with Small epiphysis of the distal phalanx of the 5th toe?", "seeds": [ "Small epiphysis of the distal phalanx of the 5th toe" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00154", "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_test_00155", "question": "What phenotype is associated with Ectodermal dysplasia/skin fragility syndrome?", "seeds": [ "Ectodermal dysplasia/skin fragility syndrome" ], "gold_answer": "Ectodermal dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00156", "question": "What is associated with Triggered by febrile illness?", "seeds": [ "Triggered by febrile illness" ], "gold_answer": "Triggered by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00157", "question": "What is associated with Spondylocostal dysostosis 6, autosomal recessive?", "seeds": [ "Spondylocostal dysostosis 6, autosomal recessive" ], "gold_answer": "Abnormal cervical spine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00158", "question": "What is associated with Neoplasm of the adrenal medulla?", "seeds": [ "Neoplasm of the adrenal medulla" ], "gold_answer": "Neoplasm of the adrenal gland", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00159", "question": "What is associated with Pseudoaminopterin syndrome?", "seeds": [ "Pseudoaminopterin syndrome" ], "gold_answer": "Abnormal localization of kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00160", "question": "What is associated with Long fingers?", "seeds": [ "Long fingers" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00161", "question": "What is associated with Myasthenic syndrome, congenital, 15?", "seeds": [ "Myasthenic syndrome, congenital, 15" ], "gold_answer": "Functional motor deficit", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00162", "question": "What is associated with Thyrotoxic periodic paralysis, susceptibility to, 2?", "seeds": [ "Thyrotoxic periodic paralysis, susceptibility to, 2" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00163", "question": "What is associated with Localized skin lesion?", "seeds": [ "Localized skin lesion" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00164", "question": "What is associated with Hypoplasia of the pyramidal tract?", "seeds": [ "Hypoplasia of the pyramidal tract" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00165", "question": "What phenotype is associated with Fanconi anemia, complementation group P?", "seeds": [ "Fanconi anemia, complementation group P" ], "gold_answer": "Pelvic kidney", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00166", "question": "What phenotype is associated with Sturge-Weber syndrome?", "seeds": [ "Sturge-Weber syndrome" ], "gold_answer": "Blindness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00167", "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_test_00168", "question": "What phenotype is associated with Uruguay faciocardiomusculoskeletal syndrome?", "seeds": [ "Uruguay faciocardiomusculoskeletal syndrome" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00169", "question": "What is associated with Cognitive epileptic aura?", "seeds": [ "Cognitive epileptic aura" ], "gold_answer": "Epileptic aura", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00170", "question": "What is associated with Abnormal ventricular axis?", "seeds": [ "Abnormal ventricular axis" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00171", "question": "What is associated with Polydactyly, preaxial IV?", "seeds": [ "Polydactyly, preaxial IV" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00172", "question": "What is associated with Mosaic trisomy 9 syndrome?", "seeds": [ "Mosaic trisomy 9 syndrome" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00173", "question": "What phenotype is associated with Microcephaly, congenital cataract, and psoriasiform dermatitis?", "seeds": [ "Microcephaly, congenital cataract, and psoriasiform dermatitis" ], "gold_answer": "Elevated circulating methysterol concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00174", "question": "What is associated with Duplication of phalanx of hallux?", "seeds": [ "Duplication of phalanx of hallux" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00175", "question": "What is associated with Hypomagnesemia 7, renal, with or without dilated cardiomyopathy?", "seeds": [ "Hypomagnesemia 7, renal, with or without dilated cardiomyopathy" ], "gold_answer": "Abnormal urine output", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00176", "question": "What phenotype is associated with Waardenburg syndrome, type 3?", "seeds": [ "Waardenburg syndrome, type 3" ], "gold_answer": "Short palpebral fissure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00177", "question": "What is associated with Abnormal timing of dark-adapted bright flash electroretinogram?", "seeds": [ "Abnormal timing of dark-adapted bright flash electroretinogram" ], "gold_answer": "Abnormal dark-adapted bright flash electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00178", "question": "What is associated with Posterior fossa cyst at the fourth ventricle?", "seeds": [ "Posterior fossa cyst at the fourth ventricle" ], "gold_answer": "Intracranial cystic lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00179", "question": "What phenotype is associated with Spinocerebellar ataxia with epilepsy?", "seeds": [ "Spinocerebellar ataxia with epilepsy" ], "gold_answer": "Myoclonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00180", "question": "What is associated with Melanoma-Astrocytoma syndrome?", "seeds": [ "Melanoma-Astrocytoma syndrome" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00181", "question": "What is associated with Hypogonadotropic hypogonadism 10 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 10 with or without anosmia" ], "gold_answer": "Hypogonadism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00182", "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_test_00183", "question": "What is associated with Recurrent singultus?", "seeds": [ "Recurrent singultus" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00184", "question": "What is associated with Fractured left clavicle?", "seeds": [ "Fractured left clavicle" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00185", "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_test_00186", "question": "What is associated with Estrogen resistance?", "seeds": [ "Estrogen resistance" ], "gold_answer": "Reduced bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00187", "question": "What is associated with Prolonged P wave?", "seeds": [ "Prolonged P wave" ], "gold_answer": "Abnormal P wave", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00188", "question": "What is associated with Dialeptic seizure?", "seeds": [ "Dialeptic seizure" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00189", "question": "What is associated with Hypoplastic carotid canal?", "seeds": [ "Hypoplastic carotid canal" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00190", "question": "What is associated with Spinocerebellar ataxia 32?", "seeds": [ "Spinocerebellar ataxia 32" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00191", "question": "What is associated with Thyroid nodule?", "seeds": [ "Thyroid nodule" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00192", "question": "What is associated with Recurrent coughing spasms?", "seeds": [ "Recurrent coughing spasms" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00193", "question": "What is associated with Autosomal recessive spastic paraplegia type 54?", "seeds": [ "Autosomal recessive spastic paraplegia type 54" ], "gold_answer": "Aplasia/Hypoplasia of the optic nerve", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00194", "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_test_00195", "question": "What is associated with Pulmonic regurgitation?", "seeds": [ "Pulmonic regurgitation" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00196", "question": "What is associated with Polydactyly, preaxial II?", "seeds": [ "Polydactyly, preaxial II" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00197", "question": "What is associated with Infection-related hemolytic uremic syndrome?", "seeds": [ "Infection-related hemolytic uremic syndrome" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00198", "question": "What phenotype is associated with Greig cephalopolysyndactyly syndrome?", "seeds": [ "Greig cephalopolysyndactyly syndrome" ], "gold_answer": "Broad hallux phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00199", "question": "What phenotype is associated with KELOIDS?", "seeds": [ "KELOIDS" ], "gold_answer": "Keloids", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00200", "question": "What is associated with Elevated circulating guanidinoacetic acid concentration?", "seeds": [ "Elevated circulating guanidinoacetic acid concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00201", "question": "What is associated with Pituitary spindle cell oncocytoma?", "seeds": [ "Pituitary spindle cell oncocytoma" ], "gold_answer": "Neoplasm of the pituitary gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00202", "question": "What phenotype is associated with Cognitive impairment with or without cerebellar ataxia?", "seeds": [ "Cognitive impairment with or without cerebellar ataxia" ], "gold_answer": "Cerebellar atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00203", "question": "What is associated with Corneal dystrophy, congenital stromal?", "seeds": [ "Corneal dystrophy, congenital stromal" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00204", "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_test_00205", "question": "What is associated with Cataract 46, juvenile-onset?", "seeds": [ "Cataract 46, juvenile-onset" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00206", "question": "What is associated with Progressive external ophthalmoplegia-myopathy-emaciation syndrome?", "seeds": [ "Progressive external ophthalmoplegia-myopathy-emaciation syndrome" ], "gold_answer": "Weakness of muscles of respiration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00207", "question": "What is associated with Cherry red spot of the macula?", "seeds": [ "Cherry red spot of the macula" ], "gold_answer": "Abnormal head blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00208", "question": "What is associated with Decreased serum zinc?", "seeds": [ "Decreased serum zinc" ], "gold_answer": "Abnormal blood cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00209", "question": "What is associated with Reduced lysosomal acid lipase activity?", "seeds": [ "Reduced lysosomal acid lipase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00210", "question": "What is associated with Non-convulsive status epilepticus with coma?", "seeds": [ "Non-convulsive status epilepticus with coma" ], "gold_answer": "Status epilepticus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00211", "question": "What is associated with Abnormal interlobular vein morphology?", "seeds": [ "Abnormal interlobular vein morphology" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00212", "question": "What phenotype is associated with Splenomegaly, cytopenia, and vision loss?", "seeds": [ "Splenomegaly, cytopenia, and vision loss" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00213", "question": "What is associated with Preauricular cyst?", "seeds": [ "Preauricular cyst" ], "gold_answer": "Abnormal periauricular region morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00214", "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_test_00215", "question": "What is associated with Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia?", "seeds": [ "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00216", "question": "What is associated with Impaired binding of factor VIII to VWF?", "seeds": [ "Impaired binding of factor VIII to VWF" ], "gold_answer": "Abnormality of von Willebrand factor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00217", "question": "What is associated with Supraventricular tachycardia with a manifest accessory pathway on the right free wall?", "seeds": [ "Supraventricular tachycardia with a manifest accessory pathway on the right free wall" ], "gold_answer": "Supraventricular tachycardia with an accessory connection mediated pathway", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00218", "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_test_00219", "question": "What is associated with Primrose syndrome?", "seeds": [ "Primrose syndrome" ], "gold_answer": "Thick vermilion border", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00220", "question": "What phenotype is associated with Retinopathy of prematurity?", "seeds": [ "Retinopathy of prematurity" ], "gold_answer": "Small for gestational age", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00221", "question": "What is associated with Fetal extra-axial hemorrhage?", "seeds": [ "Fetal extra-axial hemorrhage" ], "gold_answer": "Abnormal fetal central nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00222", "question": "What is associated with Camptosynpolydactyly, complex?", "seeds": [ "Camptosynpolydactyly, complex" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00223", "question": "What is associated with Moderate postnatal growth retardation?", "seeds": [ "Moderate postnatal growth retardation" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00224", "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_test_00225", "question": "What is associated with Xq25 microduplication syndrome?", "seeds": [ "Xq25 microduplication syndrome" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00226", "question": "What is associated with Muscle filaminopathy?", "seeds": [ "Muscle filaminopathy" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00227", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 35?", "seeds": [ "Epileptic encephalopathy, early infantile, 35" ], "gold_answer": "Delayed CNS myelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00228", "question": "What is associated with Increased carrying angle?", "seeds": [ "Increased carrying angle" ], "gold_answer": "Abnormality of the elbow", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00229", "question": "What is associated with Comma-shaped carpal bones?", "seeds": [ "Comma-shaped carpal bones" ], "gold_answer": "Abnormal wrist morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00230", "question": "What is associated with Mid-frequency hearing loss?", "seeds": [ "Mid-frequency hearing loss" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00231", "question": "What is associated with Myocardial sarcomeric disarray?", "seeds": [ "Myocardial sarcomeric disarray" ], "gold_answer": "Abnormal cardiomyocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00232", "question": "What is associated with Abnormal circulating alpha-fetoprotein concentration?", "seeds": [ "Abnormal circulating alpha-fetoprotein concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00233", "question": "What phenotype is associated with Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration?", "seeds": [ "Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" ], "gold_answer": "Wormian bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00234", "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_test_00235", "question": "What is associated with Increased circulating androgen concentration?", "seeds": [ "Increased circulating androgen concentration" ], "gold_answer": "Abnormal circulating sex hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00236", "question": "What is associated with Cholestasis?", "seeds": [ "Cholestasis" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00237", "question": "What is associated with MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect?", "seeds": [ "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00238", "question": "What is associated with Autoinflammatory syndrome, familial, Behcet-like?", "seeds": [ "Autoinflammatory syndrome, familial, Behcet-like" ], "gold_answer": "Gastrointestinal inflammation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00239", "question": "What is associated with Miyoshi muscular dystrophy 1?", "seeds": [ "Miyoshi muscular dystrophy 1" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00240", "question": "What is associated with Crystalluria?", "seeds": [ "Crystalluria" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00241", "question": "What phenotype is associated with Alveolar capillary dysplasia with misalignment of pulmonary veins?", "seeds": [ "Alveolar capillary dysplasia with misalignment of pulmonary veins" ], "gold_answer": "Coarctation of the descending aortic arch", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00242", "question": "What is associated with Protoporphyria, erythropoietic, 2?", "seeds": [ "Protoporphyria, erythropoietic, 2" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00243", "question": "What is associated with Abnormal skin morphology?", "seeds": [ "Abnormal skin morphology" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00244", "question": "What is associated with Methylmalonic aciduria and homocystinuria, cblC type?", "seeds": [ "Methylmalonic aciduria and homocystinuria, cblC type" ], "gold_answer": "Visceromegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00245", "question": "What is associated with Enlarged ovaries?", "seeds": [ "Enlarged ovaries" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00246", "question": "What is associated with Central primitive neuroectodermal tumor?", "seeds": [ "Central primitive neuroectodermal tumor" ], "gold_answer": "Neuroectodermal neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00247", "question": "What is associated with Left atrial fibrosis?", "seeds": [ "Left atrial fibrosis" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00248", "question": "What is associated with Platelet antibody positive?", "seeds": [ "Platelet antibody positive" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00249", "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_test_00250", "question": "What is associated with Midshaft hypospadias?", "seeds": [ "Midshaft hypospadias" ], "gold_answer": "Displacement of the urethral meatus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00251", "question": "What is associated with Right aortic arch with retroesophageal diverticulum of Kommerell?", "seeds": [ "Right aortic arch with retroesophageal diverticulum of Kommerell" ], "gold_answer": "Right aortic arch", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00252", "question": "What is associated with Pressure ulcer?", "seeds": [ "Pressure ulcer" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00253", "question": "What phenotype is associated with Hyperparathyroidism, primary, caused by water clear cell hyperplasia?", "seeds": [ "Hyperparathyroidism, primary, caused by water clear cell hyperplasia" ], "gold_answer": "Primary hyperparathyroidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00254", "question": "What is associated with Anti-H3 antibody positivity?", "seeds": [ "Anti-H3 antibody positivity" ], "gold_answer": "Anti-histone antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00255", "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_test_00256", "question": "What is associated with Diaphyseal dysplasia?", "seeds": [ "Diaphyseal dysplasia" ], "gold_answer": "Skeletal dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00257", "question": "What is associated with Absent dorsal skin creases over affected joints?", "seeds": [ "Absent dorsal skin creases over affected joints" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00258", "question": "What is associated with Blood group B?", "seeds": [ "Blood group B" ], "gold_answer": "ABO blood group", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00259", "question": "What is associated with Poor gross motor coordination?", "seeds": [ "Poor gross motor coordination" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00260", "question": "What phenotype is associated with Preeclampsia?", "seeds": [ "Preeclampsia" ], "gold_answer": "Headache", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00261", "question": "What is associated with Capillary hemangioma?", "seeds": [ "Capillary hemangioma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00262", "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_test_00263", "question": "What is associated with Decreased circulating complement factor B concentration?", "seeds": [ "Decreased circulating complement factor B concentration" ], "gold_answer": "Abnormality of complement system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00264", "question": "What is associated with Aicardi-Goutieres syndrome 6?", "seeds": [ "Aicardi-Goutieres syndrome 6" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00265", "question": "What is associated with Abnormality of amino acid metabolism?", "seeds": [ "Abnormality of amino acid metabolism" ], "gold_answer": "Abnormal metabolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00266", "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_test_00267", "question": "What is associated with Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps?", "seeds": [ "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00268", "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_test_00269", "question": "What is associated with Cutis marmorata?", "seeds": [ "Cutis marmorata" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00270", "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_test_00271", "question": "What is associated with Nasal hamartoma?", "seeds": [ "Nasal hamartoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00272", "question": "What phenotype is associated with Undifferentiated pleomorphic sarcoma?", "seeds": [ "Undifferentiated pleomorphic sarcoma" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00273", "question": "What is associated with Focal impaired awareness motor seizure with version?", "seeds": [ "Focal impaired awareness motor seizure with version" ], "gold_answer": "Dialeptic seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00274", "question": "What is associated with Thin vermilion border?", "seeds": [ "Thin vermilion border" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00275", "question": "What is associated with Congenital lipoid adrenal hyperplasia due to STAR deficency?", "seeds": [ "Congenital lipoid adrenal hyperplasia due to STAR deficency" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00276", "question": "What is associated with Raynaud phenomenon?", "seeds": [ "Raynaud phenomenon" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00277", "question": "What is associated with Malar prominence?", "seeds": [ "Malar prominence" ], "gold_answer": "Abnormal zygomatic bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00278", "question": "What is associated with Poliomyelitis?", "seeds": [ "Poliomyelitis" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00279", "question": "What is associated with Spondyloepimetaphyseal dysplasia, Handigodu type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, Handigodu type" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00280", "question": "What is associated with Triangular epiphysis of the middle phalanx of the 2nd toe?", "seeds": [ "Triangular epiphysis of the middle phalanx of the 2nd toe" ], "gold_answer": "Triangular epiphyses of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00281", "question": "What is associated with Cerebellar atrophy, developmental delay, and seizures?", "seeds": [ "Cerebellar atrophy, developmental delay, and seizures" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00282", "question": "What is associated with Decreased cervical spine flexion due to contractures of posterior cervical muscles?", "seeds": [ "Decreased cervical spine flexion due to contractures of posterior cervical muscles" ], "gold_answer": "Abnormal tendon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00283", "question": "What is associated with Cutis gyrata of scalp?", "seeds": [ "Cutis gyrata of scalp" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00284", "question": "What is associated with Spinal muscular atrophy, Jokela type?", "seeds": [ "Spinal muscular atrophy, Jokela type" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00285", "question": "What is associated with Subretinal exudate?", "seeds": [ "Subretinal exudate" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00286", "question": "What is associated with Ring scotoma?", "seeds": [ "Ring scotoma" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00287", "question": "What is associated with Chronic partially decreased circulating IgG1?", "seeds": [ "Chronic partially decreased circulating IgG1" ], "gold_answer": "Decreased circulating IgG subclass concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00288", "question": "What is associated with Neoplasm?", "seeds": [ "Neoplasm" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00289", "question": "What is associated with Increased complex N-glycan level?", "seeds": [ "Increased complex N-glycan level" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00290", "question": "What is associated with Autosomal dominant otospondylomegaepiphyseal dysplasia?", "seeds": [ "Autosomal dominant otospondylomegaepiphyseal dysplasia" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00291", "question": "What phenotype is associated with Vesicoureteral reflux 1?", "seeds": [ "Vesicoureteral reflux 1" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00292", "question": "What phenotype is associated with Trichohepatoneurodevelopmental syndrome?", "seeds": [ "Trichohepatoneurodevelopmental syndrome" ], "gold_answer": "Severely reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00293", "question": "What is associated with Total early-onset cataract?", "seeds": [ "Total early-onset cataract" ], "gold_answer": "GJA8", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_00294", "question": "What is associated with Absent proximal finger flexion creases?", "seeds": [ "Absent proximal finger flexion creases" ], "gold_answer": "Abnormal finger flexion crease", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00295", "question": "What is associated with Harlequin phenomenon?", "seeds": [ "Harlequin phenomenon" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00296", "question": "What is associated with MHC class I deficiency 3?", "seeds": [ "MHC class I deficiency 3" ], "gold_answer": "Unusual virus reactivation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00297", "question": "What is associated with Nodular corneal dystrophy?", "seeds": [ "Nodular corneal dystrophy" ], "gold_answer": "Opacification of the corneal stroma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00298", "question": "What is associated with Alopecia, familial focal?", "seeds": [ "Alopecia, familial focal" ], "gold_answer": "Abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00299", "question": "What is associated with Myopathy, congenital, compton-north?", "seeds": [ "Myopathy, congenital, compton-north" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00300", "question": "What is associated with Cone-shaped epiphysis of the thumb?", "seeds": [ "Cone-shaped epiphysis of the thumb" ], "gold_answer": "Abnormal hand epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00301", "question": "What is associated with Chiari type III malformation?", "seeds": [ "Chiari type III malformation" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00302", "question": "What is associated with Parkinson disease 23, autosomal recessive early-onset?", "seeds": [ "Parkinson disease 23, autosomal recessive early-onset" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00303", "question": "What is associated with Prostatic calculus?", "seeds": [ "Prostatic calculus" ], "gold_answer": "Abnormal internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00304", "question": "What is associated with Reduced circulating cholinesterase activity?", "seeds": [ "Reduced circulating cholinesterase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00305", "question": "What is associated with PFAPA syndrome?", "seeds": [ "PFAPA syndrome" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00306", "question": "What is associated with Reduced muscle fiber delta sarcoglycan?", "seeds": [ "Reduced muscle fiber delta sarcoglycan" ], "gold_answer": "Abnormal muscle fiber delta sarcoglycan", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00307", "question": "What is associated with Aorto-ventricular tunnel?", "seeds": [ "Aorto-ventricular tunnel" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00308", "question": "What phenotype is associated with Fanconi anemia, complementation group F?", "seeds": [ "Fanconi anemia, complementation group F" ], "gold_answer": "Hand polydactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00309", "question": "What phenotype is associated with Spermatogenic failure, X-linked, 6?", "seeds": [ "Spermatogenic failure, X-linked, 6" ], "gold_answer": "Recurrent bronchitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00310", "question": "What is associated with Pain on the lateral aspect of the foot?", "seeds": [ "Pain on the lateral aspect of the foot" ], "gold_answer": "Foot pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00311", "question": "What is associated with Spondyloepimetaphyseal dysplasia, sponastrime type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, sponastrime type" ], "gold_answer": "Decreased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00312", "question": "What is associated with Multiple mitochondrial dysfunctions syndrome 4?", "seeds": [ "Multiple mitochondrial dysfunctions syndrome 4" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00313", "question": "What is associated with Atrichia?", "seeds": [ "Atrichia" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00314", "question": "What is associated with Cone-shaped epiphysis of the distal phalanx of the 2nd finger?", "seeds": [ "Cone-shaped epiphysis of the distal 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_test_00315", "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_test_00316", "question": "What is associated with PLCG2-associated antibody deficiency and immune dysregulation?", "seeds": [ "PLCG2-associated antibody deficiency and immune dysregulation" ], "gold_answer": "PLCG2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_test_00317", "question": "What is associated with EEG with generalized slow activity?", "seeds": [ "EEG with generalized slow activity" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00318", "question": "What is associated with Lingual thyroid?", "seeds": [ "Lingual thyroid" ], "gold_answer": "Abnormal thyroid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00319", "question": "What is associated with T2-hyperintense putaminal rim?", "seeds": [ "T2-hyperintense putaminal rim" ], "gold_answer": "Abnormal corpus striatum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00320", "question": "What is associated with Anti-phosphatidyl inositol antibody positivity?", "seeds": [ "Anti-phosphatidyl inositol antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00321", "question": "What is associated with Mirror image polydactyly?", "seeds": [ "Mirror image polydactyly" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00322", "question": "What is associated with Abnormal erythrocyte adenosine triphosphate concentration?", "seeds": [ "Abnormal erythrocyte adenosine triphosphate concentration" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00323", "question": "What is associated with EEG with frontal epileptiform discharges?", "seeds": [ "EEG with frontal epileptiform discharges" ], "gold_answer": "EEG with focal epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00324", "question": "What is associated with Hypercapnia in cord blood?", "seeds": [ "Hypercapnia in cord blood" ], "gold_answer": "Abnormal carbon dioxide level in cord blood", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00325", "question": "What is associated with Thyroid defect in oxidation and organification of iodide?", "seeds": [ "Thyroid defect in oxidation and organification of iodide" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00326", "question": "What is associated with Myopathy with extrapyramidal signs?", "seeds": [ "Myopathy with extrapyramidal signs" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00327", "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_test_00328", "question": "What phenotype is associated with Idiopathic juvenile osteoporosis?", "seeds": [ "Idiopathic juvenile osteoporosis" ], "gold_answer": "Vertebral compression fracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00329", "question": "What is associated with Membranous choanal atresia?", "seeds": [ "Membranous choanal atresia" ], "gold_answer": "Choanal atresia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00330", "question": "What is associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome?", "seeds": [ "Megacystis-microcolon-intestinal hypoperistalsis syndrome" ], "gold_answer": "Abnormality of the amniotic fluid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00331", "question": "What is associated with Varicocele?", "seeds": [ "Varicocele" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00332", "question": "What is associated with Cataract, posterior polar, 1 ctpa cataract, congenital total, included?", "seeds": [ "Cataract, posterior polar, 1 ctpa cataract, congenital total, included" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00333", "question": "What is associated with Absent epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Absent epiphysis of the proximal 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_test_00334", "question": "What is associated with Positive CSF treponema pallidum nucleic acid test?", "seeds": [ "Positive CSF treponema pallidum nucleic acid test" ], "gold_answer": "Positive CSF infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00335", "question": "What is associated with Ankle clonus?", "seeds": [ "Ankle clonus" ], "gold_answer": "Clonus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00336", "question": "What is associated with Mitochondrial complex IV deficiency, nuclear type 18?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 18" ], "gold_answer": "Abnormal muscle tissue metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00337", "question": "What is associated with Enlarged mesenteric lymph node?", "seeds": [ "Enlarged mesenteric lymph node" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00338", "question": "What is associated with Anemia, sideroblastic, 2, pyridoxine-refractory?", "seeds": [ "Anemia, sideroblastic, 2, pyridoxine-refractory" ], "gold_answer": "Abnormal transferrin saturation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00339", "question": "What phenotype is associated with GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE?", "seeds": [ "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE" ], "gold_answer": "Granulomatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00340", "question": "What is associated with Epistaxis, hereditary?", "seeds": [ "Epistaxis, hereditary" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00341", "question": "What is associated with Late-onset spinocerebellar degeneration?", "seeds": [ "Late-onset spinocerebellar degeneration" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00342", "question": "What is associated with Neurodevelopmental disorder with or without autism or seizures?", "seeds": [ "Neurodevelopmental disorder with or without autism or seizures" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00343", "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_test_00344", "question": "What is associated with Dysmetric horizontal saccades?", "seeds": [ "Dysmetric horizontal saccades" ], "gold_answer": "Dysmetric saccades", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00345", "question": "What is associated with Cone-shaped epiphysis of the proximal phalanx of the 2nd toe?", "seeds": [ "Cone-shaped epiphysis 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_test_00346", "question": "What phenotype is associated with Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination?", "seeds": [ "Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" ], "gold_answer": "Cerebral palsy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00347", "question": "What is associated with Achondrogenesis, type IA?", "seeds": [ "Achondrogenesis, type IA" ], "gold_answer": "Abnormality of the cervical spine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00348", "question": "What phenotype is associated with Multiple endocrine neoplasia, type IV?", "seeds": [ "Multiple endocrine neoplasia, type IV" ], "gold_answer": "Renal angiomyolipoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00349", "question": "What is associated with Unilateral primary pulmonary dysgenesis?", "seeds": [ "Unilateral primary pulmonary dysgenesis" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00350", "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": "Sclerosis of middle phalanx of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00351", "question": "What phenotype is associated with T-SUBSTANCE ANOMALY?", "seeds": [ "T-SUBSTANCE ANOMALY" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00352", "question": "What is associated with Maternal autoimmune disease?", "seeds": [ "Maternal autoimmune disease" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00353", "question": "What is associated with Broncholith?", "seeds": [ "Broncholith" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00354", "question": "What phenotype is associated with Pancreas, annular?", "seeds": [ "Pancreas, annular" ], "gold_answer": "Annular pancreas", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00355", "question": "What is associated with Sclerosis of middle phalanx of toe?", "seeds": [ "Sclerosis of middle phalanx of toe" ], "gold_answer": "Increased bone mineral density", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00356", "question": "What is associated with Abnormality of pattern reversal visual evoked potentials?", "seeds": [ "Abnormality of pattern reversal visual evoked potentials" ], "gold_answer": "Abnormal brain-evoked potentials", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00357", "question": "What is associated with Abnormal lysosomal morphology?", "seeds": [ "Abnormal lysosomal morphology" ], "gold_answer": "Abnormal cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00358", "question": "What is associated with Type II pneumocyte hyperplasia?", "seeds": [ "Type II pneumocyte hyperplasia" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00359", "question": "What is associated with Renal hypoplasia?", "seeds": [ "Renal hypoplasia" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00360", "question": "What is associated with Severely increased total eosinophil count?", "seeds": [ "Severely increased total eosinophil count" ], "gold_answer": "Increased total eosinophil count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00361", "question": "What is associated with Charcot-Marie-Tooth disease, dominant intermediate G?", "seeds": [ "Charcot-Marie-Tooth disease, dominant intermediate G" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00362", "question": "What is associated with Absent sebaceous glands?", "seeds": [ "Absent sebaceous glands" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00363", "question": "What is associated with Huntington disease-like syndrome due to C9ORF72 expansions?", "seeds": [ "Huntington disease-like syndrome due to C9ORF72 expansions" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00364", "question": "What is associated with Ocular pterygium-digital keloid dysplasia syndrome?", "seeds": [ "Ocular pterygium-digital keloid dysplasia syndrome" ], "gold_answer": "Abnormal conjunctiva morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00365", "question": "What phenotype is associated with Erythema of acral regions?", "seeds": [ "Erythema of acral regions" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00366", "question": "What is associated with Aicardi-Goutieres syndrome 9?", "seeds": [ "Aicardi-Goutieres syndrome 9" ], "gold_answer": "Ectopic calcification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00367", "question": "What is associated with Hyperdeviation?", "seeds": [ "Hyperdeviation" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00368", "question": "What is associated with Oculocerebrocutaneous syndrome?", "seeds": [ "Oculocerebrocutaneous syndrome" ], "gold_answer": "Short phalanx of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00369", "question": "What is associated with Hypoplastic thumbnail?", "seeds": [ "Hypoplastic thumbnail" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00370", "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_test_00371", "question": "What phenotype is associated with Rubinstein-Taybi syndrome 1?", "seeds": [ "Rubinstein-Taybi syndrome 1" ], "gold_answer": "Headache", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00372", "question": "What is associated with Brittle cornea syndrome 2?", "seeds": [ "Brittle cornea syndrome 2" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00373", "question": "What is associated with Anti-folate receptor antibody positivity?", "seeds": [ "Anti-folate receptor antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00374", "question": "What phenotype is associated with Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome?", "seeds": [ "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" ], "gold_answer": "Abnormal aortic valve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00375", "question": "What is associated with Generalized eruptive keratoacanthoma?", "seeds": [ "Generalized eruptive keratoacanthoma" ], "gold_answer": "Keratitis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00376", "question": "What is associated with Fifth metatarsal apophysitis?", "seeds": [ "Fifth metatarsal apophysitis" ], "gold_answer": "Abnormal metatarsal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00377", "question": "What is associated with Hypophosphatemia?", "seeds": [ "Hypophosphatemia" ], "gold_answer": "Abnormal blood phosphate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00378", "question": "What is associated with Abnormal anterior horn cell morphology?", "seeds": [ "Abnormal anterior horn cell morphology" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00379", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 42?", "seeds": [ "Ciliary dyskinesia, primary, 42" ], "gold_answer": "Reduced forced vital capacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00380", "question": "What is associated with Addictive opioid use?", "seeds": [ "Addictive opioid use" ], "gold_answer": "Addictive substance use", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00381", "question": "What is associated with Waardenburg syndrome, type 4B?", "seeds": [ "Waardenburg syndrome, type 4B" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00382", "question": "What is associated with Large joint predominance?", "seeds": [ "Large joint predominance" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00383", "question": "What is associated with Hoarse voice?", "seeds": [ "Hoarse voice" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00384", "question": "What is associated with Bone marrow maturation arrest?", "seeds": [ "Bone marrow maturation arrest" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00385", "question": "What is associated with Abnormal shape of the palpebral fissure?", "seeds": [ "Abnormal shape of the palpebral fissure" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00386", "question": "What is associated with Tubo-ovarian abscess?", "seeds": [ "Tubo-ovarian abscess" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00387", "question": "What is associated with Foamy urine?", "seeds": [ "Foamy urine" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00388", "question": "What phenotype is associated with Umbilical cord ulceration-intestinal atresia syndrome?", "seeds": [ "Umbilical cord ulceration-intestinal atresia syndrome" ], "gold_answer": "Polyhydramnios", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00389", "question": "What phenotype is associated with Roberts-SC phocomelia syndrome?", "seeds": [ "Roberts-SC phocomelia syndrome" ], "gold_answer": "Hyperplasia of the maxilla", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00390", "question": "What phenotype is associated with AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome?", "seeds": [ "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00391", "question": "What is associated with EEG with changes in voltage?", "seeds": [ "EEG with changes in voltage" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00392", "question": "What is associated with Short stature, oligodontia, dysmorphic facies, and motor delay?", "seeds": [ "Short stature, oligodontia, dysmorphic facies, and motor delay" ], "gold_answer": "Aplasia/Hypoplasia of the optic nerve", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00393", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 45?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 45" ], "gold_answer": "Short chin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00394", "question": "What is associated with Autosomal recessive spastic paraplegia type 14?", "seeds": [ "Autosomal recessive spastic paraplegia type 14" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00395", "question": "What is associated with Cockayne syndrome type 3?", "seeds": [ "Cockayne syndrome type 3" ], "gold_answer": "Functional abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00396", "question": "What phenotype is associated with Scimitar syndrome?", "seeds": [ "Scimitar syndrome" ], "gold_answer": "Single ventricle", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00397", "question": "What is associated with Sleep-related eating behavior?", "seeds": [ "Sleep-related eating behavior" ], "gold_answer": "Abnormal eating behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00398", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 16?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 16" ], "gold_answer": "Synophrys", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00399", "question": "What phenotype is associated with Surfactant metabolism dysfunction, pulmonary, 4?", "seeds": [ "Surfactant metabolism dysfunction, pulmonary, 4" ], "gold_answer": "Restrictive ventilatory defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00400", "question": "What phenotype is associated with Acyl-Coa dehydrogenase, medium-chain, deficiency of?", "seeds": [ "Acyl-Coa dehydrogenase, medium-chain, deficiency of" ], "gold_answer": "Lethargy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00401", "question": "What is associated with Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form?", "seeds": [ "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form" ], "gold_answer": "GBE1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_00402", "question": "What is associated with Anagen effluvium?", "seeds": [ "Anagen effluvium" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00403", "question": "What is associated with Increased fucosylation of N-linked protein glycosylation?", "seeds": [ "Increased 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_test_00404", "question": "What is associated with Diminishment of social interactions?", "seeds": [ "Diminishment of social interactions" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00405", "question": "What is associated with Nyctalopia?", "seeds": [ "Nyctalopia" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00406", "question": "What is associated with Airway chondritis?", "seeds": [ "Airway chondritis" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00407", "question": "What is associated with Renal arteriole intima/media arteriolosclerosis?", "seeds": [ "Renal arteriole intima/media arteriolosclerosis" ], "gold_answer": "Abnormal renal arteriole intima/media morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00408", "question": "What is associated with Lipedema?", "seeds": [ "Lipedema" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00409", "question": "What is associated with Persistent repetition of sounds?", "seeds": [ "Persistent repetition of sounds" ], "gold_answer": "Abnormal cognitive process", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00410", "question": "What phenotype is associated with Unilateral polymicrogyria?", "seeds": [ "Unilateral polymicrogyria" ], "gold_answer": "Appendicular hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00411", "question": "What is associated with Decreased specific antibody response to vaccination?", "seeds": [ "Decreased specific antibody response to vaccination" ], "gold_answer": "Decreased circulating level of specific antibody", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00412", "question": "What phenotype is associated with Oocyte/zygote/embryo maturation arrest 14?", "seeds": [ "Oocyte/zygote/embryo maturation arrest 14" ], "gold_answer": "Oocyte maturation arrest", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00413", "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_test_00414", "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_test_00415", "question": "What is associated with Autosomal recessive chorioretinopathy-microcephaly syndrome?", "seeds": [ "Autosomal recessive chorioretinopathy-microcephaly syndrome" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00416", "question": "What is associated with 3-hydroxydicarboxylic aciduria?", "seeds": [ "3-hydroxydicarboxylic aciduria" ], "gold_answer": "Organic aciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00417", "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_test_00418", "question": "What is associated with Incomplete right bundle branch block?", "seeds": [ "Incomplete right bundle branch block" ], "gold_answer": "Cardiac conduction abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00419", "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_test_00420", "question": "What is associated with Cerebellar dentate nucleus calcification?", "seeds": [ "Cerebellar dentate nucleus calcification" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00421", "question": "What is associated with Abnormal circulating albumin concentration?", "seeds": [ "Abnormal circulating albumin concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00422", "question": "What is associated with Pycnodysostosis?", "seeds": [ "Pycnodysostosis" ], "gold_answer": "Aplasia/hypoplasia involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00423", "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 organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00424", "question": "What is associated with Anejaculation?", "seeds": [ "Anejaculation" ], "gold_answer": "Abnormal male reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00425", "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_test_00426", "question": "What is associated with Compressed lymph-node sinuses?", "seeds": [ "Compressed lymph-node sinuses" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00427", "question": "What is associated with Familial atrial myxoma?", "seeds": [ "Familial atrial myxoma" ], "gold_answer": "Neoplasm of the heart", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00428", "question": "What is associated with Leukodystrophy, hypomyelinating, 25?", "seeds": [ "Leukodystrophy, hypomyelinating, 25" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00429", "question": "What is associated with Combined oxidative phosphorylation deficiency 49?", "seeds": [ "Combined oxidative phosphorylation deficiency 49" ], "gold_answer": "Abnormal activity of mitochondrial respiratory chain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00430", "question": "What is associated with Retinopathy of prematurity?", "seeds": [ "Retinopathy of prematurity" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00431", "question": "What is associated with Microcephaly-seizures-intellectual disability-heart disease syndrome?", "seeds": [ "Microcephaly-seizures-intellectual disability-heart disease syndrome" ], "gold_answer": "Polydactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00432", "question": "What phenotype is associated with Congenital prothrombin deficiency?", "seeds": [ "Congenital prothrombin deficiency" ], "gold_answer": "Bruising susceptibility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00433", "question": "What is associated with Truncal ataxia?", "seeds": [ "Truncal ataxia" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00434", "question": "What is associated with Obsessive-compulsive trait?", "seeds": [ "Obsessive-compulsive trait" ], "gold_answer": "Compulsive behaviors", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00435", "question": "What is associated with Hyperprolactinemia?", "seeds": [ "Hyperprolactinemia" ], "gold_answer": "Abnormality of the menstrual cycle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00436", "question": "What is associated with Epilepsy, progressive myoclonic, 6?", "seeds": [ "Epilepsy, progressive myoclonic, 6" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00437", "question": "What is associated with Tubulointerstitial fibrosis?", "seeds": [ "Tubulointerstitial fibrosis" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00438", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3" ], "gold_answer": "Abnormality of refraction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00439", "question": "What is associated with Hemangiopericytoma, malignant?", "seeds": [ "Hemangiopericytoma, malignant" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00440", "question": "What is associated with Eyelid laxity?", "seeds": [ "Eyelid laxity" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00441", "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_test_00442", "question": "What is associated with Abnormal tricuspid valve physiology?", "seeds": [ "Abnormal tricuspid valve physiology" ], "gold_answer": "Abnormal atrioventricular valve physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00443", "question": "What is associated with Abnormal naive B cell proportion?", "seeds": [ "Abnormal naive B cell proportion" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00444", "question": "What phenotype is associated with Autosomal dominant polycystic kidney disease?", "seeds": [ "Autosomal dominant polycystic kidney disease" ], "gold_answer": "Social and occupational deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00445", "question": "What phenotype is associated with Neurodevelopmental disorder with seizures and joint laxity?", "seeds": [ "Neurodevelopmental disorder with seizures and joint laxity" ], "gold_answer": "Abnormal pulmonary valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00446", "question": "What is associated with Hip external rotation contracture?", "seeds": [ "Hip external rotation contracture" ], "gold_answer": "Limb joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00447", "question": "What phenotype is associated with Carabelli anomaly of maxillary molar teeth?", "seeds": [ "Carabelli anomaly of maxillary molar teeth" ], "gold_answer": "Abnormality of molar", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00448", "question": "What is associated with Oligohydramnios?", "seeds": [ "Oligohydramnios" ], "gold_answer": "Abnormality of the amniotic fluid", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00449", "question": "What is associated with Reduced muscle 6-phosphofructokinase activity?", "seeds": [ "Reduced muscle 6-phosphofructokinase activity" ], "gold_answer": "Abnormal enzyme activity in muscle tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00450", "question": "What is associated with Glial remnants anterior to the optic disc?", "seeds": [ "Glial remnants anterior to the optic disc" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00451", "question": "What is associated with Abnormal ankle morphology?", "seeds": [ "Abnormal ankle morphology" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00452", "question": "What is associated with Enlarged epiphyses?", "seeds": [ "Enlarged epiphyses" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00453", "question": "What is associated with RHINY?", "seeds": [ "RHINY" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00454", "question": "What is associated with Decreased neutrophil toll-like receptor signalling?", "seeds": [ "Decreased neutrophil toll-like receptor signalling" ], "gold_answer": "Abnormal leukocyte physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00455", "question": "What is associated with Pancreatic intraductal papillary mucinous neoplasm?", "seeds": [ "Pancreatic intraductal papillary mucinous neoplasm" ], "gold_answer": "Neoplasm of the pancreas", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00456", "question": "What phenotype is associated with Pseudohypoaldosteronism, type IB2, autosomal recessive?", "seeds": [ "Pseudohypoaldosteronism, type IB2, autosomal recessive" ], "gold_answer": "Dehydration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00457", "question": "What is associated with Fetal methylmercury syndrome?", "seeds": [ "Fetal methylmercury syndrome" ], "gold_answer": "Aplasia/Hypoplasia involving the central nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00458", "question": "What is associated with Intralobar nephroblastomatosis?", "seeds": [ "Intralobar nephroblastomatosis" ], "gold_answer": "Embryonal renal neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00459", "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_test_00460", "question": "What is associated with Unaided visual acuity 0.2 LogMAR?", "seeds": [ "Unaided visual acuity 0.2 LogMAR" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00461", "question": "What is associated with Amyotrophic lateral sclerosis type 4?", "seeds": [ "Amyotrophic lateral sclerosis type 4" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00462", "question": "What is associated with Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome?", "seeds": [ "Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome" ], "gold_answer": "Ectopic calcification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00463", "question": "What phenotype is associated with Gillessen-Kaesbach-Nishimura syndrome?", "seeds": [ "Gillessen-Kaesbach-Nishimura syndrome" ], "gold_answer": "Omphalocele", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00464", "question": "What is associated with Agenesis of molar?", "seeds": [ "Agenesis of molar" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00465", "question": "What is associated with Nabais Sa-de Vries syndrome, type 1?", "seeds": [ "Nabais Sa-de Vries syndrome, type 1" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00466", "question": "What is associated with Tongue atrophy?", "seeds": [ "Tongue atrophy" ], "gold_answer": "Abnormality of the tongue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00467", "question": "What is associated with Branchiooculofacial syndrome?", "seeds": [ "Branchiooculofacial syndrome" ], "gold_answer": "Abnormal ureter morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00468", "question": "What is associated with Scapular exostoses?", "seeds": [ "Scapular exostoses" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00469", "question": "What is associated with Fragmented metacarpal epiphysis?", "seeds": [ "Fragmented metacarpal epiphysis" ], "gold_answer": "Fragmented upper limb epiphysis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00470", "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": "Duplication of the phalanges of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00471", "question": "What is associated with Sclerosis of middle phalanx of finger?", "seeds": [ "Sclerosis of middle phalanx of finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00472", "question": "What is associated with Abnormal circulating biopterin concentration?", "seeds": [ "Abnormal circulating biopterin concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00473", "question": "What is associated with Immunodeficiency 70?", "seeds": [ "Immunodeficiency 70" ], "gold_answer": "Decreased circulating IgG concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00474", "question": "What is associated with Inflammatory bowel disease 3?", "seeds": [ "Inflammatory bowel disease 3" ], "gold_answer": "Colitis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00475", "question": "What is associated with Reduced forced vital capacity?", "seeds": [ "Reduced forced vital capacity" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00476", "question": "What is associated with Undermodelled hand bones?", "seeds": [ "Undermodelled hand bones" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00477", "question": "What is associated with Microform holoprosencephaly?", "seeds": [ "Microform holoprosencephaly" ], "gold_answer": "Duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00478", "question": "What is associated with Giant somatosensory evoked potentials?", "seeds": [ "Giant somatosensory evoked potentials" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00479", "question": "What is associated with Elevated urinary 3-hydroxyisobutyric acid level?", "seeds": [ "Elevated urinary 3-hydroxyisobutyric acid level" ], "gold_answer": "Abnormal urine carboxylic acid level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00480", "question": "What is associated with Bent long bone?", "seeds": [ "Bent long bone" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00481", "question": "What is associated with Superficial epidermolytic ichthyosis?", "seeds": [ "Superficial epidermolytic ichthyosis" ], "gold_answer": "Epidermal thickening", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00482", "question": "What is associated with Intellectual developmental disorder, X-linked 103?", "seeds": [ "Intellectual developmental disorder, X-linked 103" ], "gold_answer": "Abnormal lateral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00483", "question": "What is associated with Albinism, oculocutaneous, type V?", "seeds": [ "Albinism, oculocutaneous, type V" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00484", "question": "What is associated with Craniometaphyseal dysplasia, autosomal recessive?", "seeds": [ "Craniometaphyseal dysplasia, autosomal recessive" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00485", "question": "What is associated with Complex febrile seizure?", "seeds": [ "Complex febrile seizure" ], "gold_answer": "Seizure precipitated by febrile infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00486", "question": "What is associated with Glomerular parietal epithelial cell hypertrophy?", "seeds": [ "Glomerular parietal epithelial cell hypertrophy" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00487", "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_test_00488", "question": "What is associated with Abnormal coronary artery origin?", "seeds": [ "Abnormal coronary artery origin" ], "gold_answer": "Abnormal coronary artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00489", "question": "What is associated with Renal artery aneurysm?", "seeds": [ "Renal artery aneurysm" ], "gold_answer": "Abnormal renal artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00490", "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_test_00491", "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_test_00492", "question": "What is associated with Atlantoaxial abnormality?", "seeds": [ "Atlantoaxial abnormality" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00493", "question": "What is associated with Shortened sleep phase?", "seeds": [ "Shortened sleep phase" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00494", "question": "What is associated with Focal?", "seeds": [ "Focal" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00495", "question": "What is associated with Atrial septal defect?", "seeds": [ "Atrial septal defect" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00496", "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_test_00497", "question": "What phenotype is associated with Hydatidiform mole, recurrent, 1?", "seeds": [ "Hydatidiform mole, recurrent, 1" ], "gold_answer": "Menometrorrhagia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00498", "question": "What is associated with Macrovesicular hepatic steatosis?", "seeds": [ "Macrovesicular hepatic steatosis" ], "gold_answer": "Hepatic steatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00499", "question": "What is associated with Glutaric acidemia type 3?", "seeds": [ "Glutaric acidemia type 3" ], "gold_answer": "Abnormal diminished volition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00500", "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_test_00501", "question": "What phenotype is associated with Muscular dystrophy, limb-girdle, type 2Q?", "seeds": [ "Muscular dystrophy, limb-girdle, type 2Q" ], "gold_answer": "Proximal muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00502", "question": "What is associated with Very frequent?", "seeds": [ "Very frequent" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00503", "question": "What is associated with Aplasia of the olfactory tract?", "seeds": [ "Aplasia of the olfactory tract" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00504", "question": "What phenotype is associated with Cardiomyopathy, dilated, 1Y?", "seeds": [ "Cardiomyopathy, dilated, 1Y" ], "gold_answer": "Atrial fibrillation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00505", "question": "What is associated with Autoinflammatory disease, multisystem, with immune dysregulation, X-linked?", "seeds": [ "Autoinflammatory disease, multisystem, with immune dysregulation, X-linked" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00506", "question": "What is associated with Spinal muscular atrophy, type IV?", "seeds": [ "Spinal muscular atrophy, type IV" ], "gold_answer": "Motor neuron atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00507", "question": "What is associated with Double aortic arch?", "seeds": [ "Double aortic arch" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00508", "question": "What is associated with Induced vaginal delivery?", "seeds": [ "Induced vaginal delivery" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00509", "question": "What is associated with Thyroid hormone metabolism, abnormal?", "seeds": [ "Thyroid hormone metabolism, abnormal" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00510", "question": "What is associated with Gout susceptibility 4?", "seeds": [ "Gout susceptibility 4" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00511", "question": "What is associated with Sclerosis of the distal phalanx of the thumb?", "seeds": [ "Sclerosis of the distal phalanx of the thumb" ], "gold_answer": "Sclerosis of finger phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00512", "question": "What is associated with Abnormal T3/T4 ratio?", "seeds": [ "Abnormal T3/T4 ratio" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00513", "question": "What is associated with Fibrous tissue neoplasm?", "seeds": [ "Fibrous tissue neoplasm" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00514", "question": "What is associated with Aplasia of the olfactory bulb?", "seeds": [ "Aplasia of the olfactory bulb" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00515", "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": "Abnormal fifth toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00516", "question": "What phenotype is associated with Diamond-Blackfan anemia 15 with mandibulofacial dysostosis?", "seeds": [ "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" ], "gold_answer": "Mixed hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00517", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 15?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 15" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00518", "question": "What is associated with Abnormal brain choline level by MRS?", "seeds": [ "Abnormal brain choline level by MRS" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00519", "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_test_00520", "question": "What is associated with Reduced ability to form peer relationships?", "seeds": [ "Reduced ability to form peer relationships" ], "gold_answer": "Abnormal social development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00521", "question": "What is associated with Megarectum?", "seeds": [ "Megarectum" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00522", "question": "What is associated with Frequent napping?", "seeds": [ "Frequent napping" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00523", "question": "What phenotype is associated with Retinopathy of prematurity stage 5b?", "seeds": [ "Retinopathy of prematurity stage 5b" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00524", "question": "What is associated with Temporomandibular joint adhesion?", "seeds": [ "Temporomandibular joint adhesion" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00525", "question": "What is associated with Bronchial isomerism?", "seeds": [ "Bronchial isomerism" ], "gold_answer": "Isomerism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00526", "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_test_00527", "question": "What is associated with Muscle fiber cytoplasmatic inclusion bodies?", "seeds": [ "Muscle fiber cytoplasmatic inclusion bodies" ], "gold_answer": "Pathological inclusion body", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00528", "question": "What phenotype is associated with Isolated splenogonadal fusion?", "seeds": [ "Isolated splenogonadal fusion" ], "gold_answer": "Inguinal hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00529", "question": "What phenotype is associated with Porencephaly?", "seeds": [ "Porencephaly" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00530", "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_test_00531", "question": "What phenotype is associated with Spinocerebellar ataxia 4?", "seeds": [ "Spinocerebellar ataxia 4" ], "gold_answer": "Babinski sign", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00532", "question": "What is associated with Heterophoria?", "seeds": [ "Heterophoria" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00533", "question": "What is associated with Abnormal clitoris morphology?", "seeds": [ "Abnormal clitoris morphology" ], "gold_answer": "Abnormal female external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00534", "question": "What phenotype is associated with Combined malonic and methylmalonic aciduria?", "seeds": [ "Combined malonic and methylmalonic aciduria" ], "gold_answer": "Failure to thrive", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00535", "question": "What is associated with Postural hypotension with compensatory tachycardia?", "seeds": [ "Postural hypotension with compensatory tachycardia" ], "gold_answer": "Orthostatic hypotension", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00536", "question": "What phenotype is associated with Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type?", "seeds": [ "Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type" ], "gold_answer": "Severe infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00537", "question": "What is associated with Exposure to humid conditions?", "seeds": [ "Exposure to humid conditions" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00538", "question": "What is associated with Absent ossification of capital femoral epiphysis?", "seeds": [ "Absent ossification of capital femoral epiphysis" ], "gold_answer": "Abnormal femoral neck/head morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00539", "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": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00540", "question": "What is associated with Renal neoplasm?", "seeds": [ "Renal neoplasm" ], "gold_answer": "Abnormality of the urinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00541", "question": "What phenotype is associated with Ichthyosis, split hairs, and amino aciduria?", "seeds": [ "Ichthyosis, split hairs, and amino aciduria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00542", "question": "What is associated with Subcortical white matter calcifications?", "seeds": [ "Subcortical white matter calcifications" ], "gold_answer": "Intracranial calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00543", "question": "What is associated with Perifollicular hyperkeratosis?", "seeds": [ "Perifollicular hyperkeratosis" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00544", "question": "What phenotype is associated with GJC2-related late-onset primary lymphedema?", "seeds": [ "GJC2-related late-onset primary lymphedema" ], "gold_answer": "Ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00545", "question": "What is associated with Decreased mean corpuscular volume?", "seeds": [ "Decreased mean corpuscular volume" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00546", "question": "What is associated with Non-medullary thyroid carcinoma?", "seeds": [ "Non-medullary thyroid carcinoma" ], "gold_answer": "Thyroid carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00547", "question": "What is associated with Decreased circulating superoxide dismutase concentration?", "seeds": [ "Decreased circulating superoxide dismutase concentration" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00548", "question": "What phenotype is associated with Corneal dystrophy, fuchs endothelial, 6?", "seeds": [ "Corneal dystrophy, fuchs endothelial, 6" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00549", "question": "What is associated with Copper accumulation in liver?", "seeds": [ "Copper accumulation in liver" ], "gold_answer": "Abnormal liver metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00550", "question": "What is associated with Abnormal circulating neopterin concentration?", "seeds": [ "Abnormal circulating neopterin concentration" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00551", "question": "What is associated with Anal margin basal cell carcinoma?", "seeds": [ "Anal margin basal cell carcinoma" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00552", "question": "What is associated with Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant?", "seeds": [ "Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" ], "gold_answer": "Abnormality of skin adnexa physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00553", "question": "What is associated with Autosomal recessive nail dysplasia?", "seeds": [ "Autosomal recessive nail dysplasia" ], "gold_answer": "FZD6", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_00554", "question": "What phenotype 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": "Recurrent Staphylococcus aureus infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00555", "question": "What is associated with Abnormal muscle fiber myotilin?", "seeds": [ "Abnormal muscle fiber myotilin" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00556", "question": "What is associated with Unusual virus reactivation?", "seeds": [ "Unusual virus reactivation" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00557", "question": "What is associated with Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia?", "seeds": [ "Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" ], "gold_answer": "GLE1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_00558", "question": "What is associated with Bickerstaff brainstem encephalitis?", "seeds": [ "Bickerstaff brainstem encephalitis" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00559", "question": "What phenotype is associated with Periventricular nodular heterotopia?", "seeds": [ "Periventricular nodular heterotopia" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00560", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 29?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 29" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00561", "question": "What is associated with Bullet-shaped 2nd toe phalanx?", "seeds": [ "Bullet-shaped 2nd toe phalanx" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00562", "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_test_00563", "question": "What is associated with Spasticity?", "seeds": [ "Spasticity" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00564", "question": "What is associated with Fanconi anemia, complementation group J?", "seeds": [ "Fanconi anemia, complementation group J" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00565", "question": "What is associated with Esophageal cancer, somatic?", "seeds": [ "Esophageal cancer, somatic" ], "gold_answer": "Abnormal esophagus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00566", "question": "What phenotype is associated with Isolated absence/hypoplasia of fingers excluding thumb, unilateral?", "seeds": [ "Isolated absence/hypoplasia of fingers excluding thumb, unilateral" ], "gold_answer": "Short metacarpal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00567", "question": "What phenotype is associated with Parotidomegaly, hereditary bilateral?", "seeds": [ "Parotidomegaly, hereditary bilateral" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00568", "question": "What is associated with Cono-spondylar dysplasia?", "seeds": [ "Cono-spondylar dysplasia" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00569", "question": "What is associated with ADan amyloidosis?", "seeds": [ "ADan amyloidosis" ], "gold_answer": "ITM2B", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_00570", "question": "What is associated with Nephronophthisis 14?", "seeds": [ "Nephronophthisis 14" ], "gold_answer": "CFAP53", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_00571", "question": "What is associated with Isothenuria?", "seeds": [ "Isothenuria" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00572", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)?", "seeds": [ "Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)" ], "gold_answer": "Myopia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00573", "question": "What is associated with Restrictive cardiomyopathy?", "seeds": [ "Restrictive cardiomyopathy" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00574", "question": "What is associated with Abnormal odontoid tissue morphology?", "seeds": [ "Abnormal odontoid tissue morphology" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00575", "question": "What is associated with Hallucinations?", "seeds": [ "Hallucinations" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00576", "question": "What is associated with Chronic granulomatous disease 5, autosomal recessive?", "seeds": [ "Chronic granulomatous disease 5, autosomal recessive" ], "gold_answer": "Unusual fungal infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00577", "question": "What is associated with Progressive extrapyramidal movement disorder?", "seeds": [ "Progressive extrapyramidal movement disorder" ], "gold_answer": "Abnormality of extrapyramidal motor function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00578", "question": "What is associated with Juxtafoveal choroidal neovascularization?", "seeds": [ "Juxtafoveal choroidal neovascularization" ], "gold_answer": "Choroidal neovascularization", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00579", "question": "What is associated with Microphthalmia, syndromic 1?", "seeds": [ "Microphthalmia, syndromic 1" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00580", "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_test_00581", "question": "What is associated with Hip flexion contracture?", "seeds": [ "Hip flexion contracture" ], "gold_answer": "Hip contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00582", "question": "What is associated with Spatulate thumbs?", "seeds": [ "Spatulate thumbs" ], "gold_answer": "Broad phalanx", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00583", "question": "What is associated with Melnick-Needles syndrome?", "seeds": [ "Melnick-Needles syndrome" ], "gold_answer": "Abnormal tibia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00584", "question": "What is associated with Cleft mandible?", "seeds": [ "Cleft mandible" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00585", "question": "What is associated with Neoplasm of the ceruminal gland?", "seeds": [ "Neoplasm of the ceruminal gland" ], "gold_answer": "Neoplasm of the outer ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00586", "question": "What phenotype is associated with Regional odontodysplasia?", "seeds": [ "Regional odontodysplasia" ], "gold_answer": "Blue sclerae", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00587", "question": "What is associated with Bracket epiphysis of the middle phalanx of the 3rd toe?", "seeds": [ "Bracket epiphysis of the middle phalanx of the 3rd toe" ], "gold_answer": "Bracket epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00588", "question": "What is associated with Type II lissencephaly?", "seeds": [ "Type II lissencephaly" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00589", "question": "What is associated with Follicular bronchiolitis?", "seeds": [ "Follicular bronchiolitis" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00590", "question": "What is associated with 12q14 microdeletion syndrome?", "seeds": [ "12q14 microdeletion syndrome" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00591", "question": "What is associated with Biliary cirrhosis, primary?", "seeds": [ "Biliary cirrhosis, primary" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00592", "question": "What is associated with Elevated circulating alpha-fetoprotein concentration?", "seeds": [ "Elevated circulating alpha-fetoprotein concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00593", "question": "What phenotype is associated with Lissencephaly 7 with cerebellar hypoplasia?", "seeds": [ "Lissencephaly 7 with cerebellar hypoplasia" ], "gold_answer": "Persistent head lag", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00594", "question": "What phenotype is associated with Cirrhosis, familial?", "seeds": [ "Cirrhosis, familial" ], "gold_answer": "Cirrhosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00595", "question": "What is associated with Exacerbated by aspirin exposure?", "seeds": [ "Exacerbated by aspirin exposure" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00596", "question": "What is associated with Marshall syndrome?", "seeds": [ "Marshall syndrome" ], "gold_answer": "Broad phalanx", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00597", "question": "What is associated with Impaired myocardial contractility?", "seeds": [ "Impaired myocardial contractility" ], "gold_answer": "Reduced systolic function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00598", "question": "What is associated with Punctate keratitis?", "seeds": [ "Punctate keratitis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00599", "question": "What is associated with Abnormality of the epiphysis of the 2nd metacarpal?", "seeds": [ "Abnormality of the epiphysis of the 2nd metacarpal" ], "gold_answer": "Abnormal 2nd metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00600", "question": "What is associated with Atretic vas deferens?", "seeds": [ "Atretic vas deferens" ], "gold_answer": "Abnormality of the male genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00601", "question": "What is associated with Abnormal distal humeral epiphysis morphology?", "seeds": [ "Abnormal distal humeral epiphysis morphology" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00602", "question": "What is associated with Abnormal anteroposterior retina thickness on OCT?", "seeds": [ "Abnormal anteroposterior retina thickness on OCT" ], "gold_answer": "Abnormal posterior segment imaging", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00603", "question": "What is associated with Mandibular osteolysis?", "seeds": [ "Mandibular osteolysis" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00604", "question": "What is associated with Tube feeding?", "seeds": [ "Tube feeding" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00605", "question": "What is associated with Absent paranasal sinuses?", "seeds": [ "Absent paranasal sinuses" ], "gold_answer": "Aplasia/Hypoplasia involving the sinuses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00606", "question": "What is associated with Decreased HDL3a concentration?", "seeds": [ "Decreased HDL3a concentration" ], "gold_answer": "Abnormal HDL cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00607", "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_test_00608", "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_test_00609", "question": "What is associated with Abnormality of the urinary system?", "seeds": [ "Abnormality of the urinary system" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00610", "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_test_00611", "question": "What is associated with Abnormality of prothrombin?", "seeds": [ "Abnormality of prothrombin" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00612", "question": "What is associated with Auditory neuropathy, autosomal dominant 2?", "seeds": [ "Auditory neuropathy, autosomal dominant 2" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00613", "question": "What phenotype is associated with Rabies?", "seeds": [ "Rabies" ], "gold_answer": "Anxiety", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00614", "question": "What is associated with Gomez-Lopez-Hernandez syndrome?", "seeds": [ "Gomez-Lopez-Hernandez syndrome" ], "gold_answer": "Large fontanelles", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00615", "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_test_00616", "question": "What is associated with Abnormal pulse?", "seeds": [ "Abnormal pulse" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00617", "question": "What is associated with Broad phalanges of the 5th finger?", "seeds": [ "Broad phalanges of the 5th finger" ], "gold_answer": "Broad phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00618", "question": "What is associated with Woods syndrome?", "seeds": [ "Woods syndrome" ], "gold_answer": "Limited elbow movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00619", "question": "What is associated with Paroxysmal tonic upgaze?", "seeds": [ "Paroxysmal tonic upgaze" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00620", "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_test_00621", "question": "What is associated with Abnormal alpha granules?", "seeds": [ "Abnormal alpha granules" ], "gold_answer": "Abnormality of thrombocytes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00622", "question": "What is associated with Sensory exotropia?", "seeds": [ "Sensory exotropia" ], "gold_answer": "Exodeviation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00623", "question": "What is associated with Forward slanting upper incisors?", "seeds": [ "Forward slanting upper incisors" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00624", "question": "What is associated with Idiopathic/heritable pulmonary arterial hypertension?", "seeds": [ "Idiopathic/heritable pulmonary arterial hypertension" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00625", "question": "What is associated with Left axis deviation?", "seeds": [ "Left axis deviation" ], "gold_answer": "Abnormal ventricular axis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00626", "question": "What phenotype is associated with Silver-Russell syndrome 4?", "seeds": [ "Silver-Russell syndrome 4" ], "gold_answer": "Feeding difficulties in infancy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00627", "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": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00628", "question": "What is associated with Weill-Marchesani syndrome 1?", "seeds": [ "Weill-Marchesani syndrome 1" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00629", "question": "What phenotype is associated with Cardiac diverticulum?", "seeds": [ "Cardiac diverticulum" ], "gold_answer": "Thin vermilion border", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00630", "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_test_00631", "question": "What is associated with Autoimmunity?", "seeds": [ "Autoimmunity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00632", "question": "What is associated with Exercise-induced malignant hyperthermia?", "seeds": [ "Exercise-induced malignant hyperthermia" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00633", "question": "What is associated with Von Willebrand disease?", "seeds": [ "Von Willebrand disease" ], "gold_answer": "Internal hemorrhage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00634", "question": "What is associated with Persistent cloaca?", "seeds": [ "Persistent cloaca" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00635", "question": "What is associated with Hyperalaninemia?", "seeds": [ "Hyperalaninemia" ], "gold_answer": "Abnormal circulating proteinogenic amino acid derivative concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00636", "question": "What is associated with Fibrin casts?", "seeds": [ "Fibrin casts" ], "gold_answer": "Abnormal bronchus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00637", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 65?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 65" ], "gold_answer": "Macrotia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00638", "question": "What is associated with Hypermobility of interphalangeal joints?", "seeds": [ "Hypermobility of interphalangeal joints" ], "gold_answer": "Joint hypermobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00639", "question": "What is associated with Synostosis involving bones of the lower limbs?", "seeds": [ "Synostosis involving bones of the lower limbs" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00640", "question": "What is associated with Reduced tissue mannosyl-oligosaccharide glucosidase activity?", "seeds": [ "Reduced tissue mannosyl-oligosaccharide glucosidase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00641", "question": "What is associated with Abnormal gastrointestinal motility?", "seeds": [ "Abnormal gastrointestinal motility" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00642", "question": "What phenotype is associated with Immunodeficiency 77?", "seeds": [ "Immunodeficiency 77" ], "gold_answer": "Recurrent tonsillitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00643", "question": "What is associated with Vitamin D hydroxylation-deficient rickets, type 1B?", "seeds": [ "Vitamin D hydroxylation-deficient rickets, type 1B" ], "gold_answer": "Enlarged epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00644", "question": "What is associated with Increased intracranial pressure?", "seeds": [ "Increased intracranial pressure" ], "gold_answer": "Abnormality of intracranial pressure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00645", "question": "What is associated with Irregularly spaced teeth?", "seeds": [ "Irregularly spaced teeth" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00646", "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_test_00647", "question": "What is associated with Midline facial cleft?", "seeds": [ "Midline facial cleft" ], "gold_answer": "Tessier cleft", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00648", "question": "What is associated with Broad radius?", "seeds": [ "Broad radius" ], "gold_answer": "Broad forearm bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00649", "question": "What is associated with Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration?", "seeds": [ "Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00650", "question": "What is associated with Abnormal mandible coronoid process morphology?", "seeds": [ "Abnormal mandible coronoid process morphology" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00651", "question": "What is associated with Abnormal pulse?", "seeds": [ "Abnormal pulse" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00652", "question": "What is associated with Multiple mitochondrial dysfunctions syndrome 4?", "seeds": [ "Multiple mitochondrial dysfunctions syndrome 4" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00653", "question": "What is associated with Iris hypoperfusion?", "seeds": [ "Iris hypoperfusion" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00654", "question": "What is associated with Midline liver?", "seeds": [ "Midline liver" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00655", "question": "What phenotype is associated with Stickler syndrome type 2?", "seeds": [ "Stickler syndrome type 2" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00656", "question": "What is associated with Autosomal dominant spastic paraplegia type 9A?", "seeds": [ "Autosomal dominant spastic paraplegia type 9A" ], "gold_answer": "Dysarthria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00657", "question": "What is associated with Elevated monolysocardiolipin/cardiolipin ratio?", "seeds": [ "Elevated monolysocardiolipin/cardiolipin ratio" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00658", "question": "What is associated with Cone-shaped epiphysis of the middle phalanx of the 3rd finger?", "seeds": [ "Cone-shaped epiphysis of the middle phalanx of the 3rd finger" ], "gold_answer": "Cone-shaped epiphyses of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00659", "question": "What is associated with Social disinhibition?", "seeds": [ "Social disinhibition" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00660", "question": "What is associated with Increased HDL3a concentration?", "seeds": [ "Increased HDL3a concentration" ], "gold_answer": "Abnormal HDL3a concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00661", "question": "What is associated with Short digit?", "seeds": [ "Short digit" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00662", "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_test_00663", "question": "What is associated with Nil-Deshwar neurodevelopmental syndrome?", "seeds": [ "Nil-Deshwar neurodevelopmental syndrome" ], "gold_answer": "Abnormal cheek morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00664", "question": "What is associated with Exudative vitreoretinopathy 5?", "seeds": [ "Exudative vitreoretinopathy 5" ], "gold_answer": "Retinal detachment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00665", "question": "What phenotype is associated with Branchio-oculo-facial syndrome?", "seeds": [ "Branchio-oculo-facial syndrome" ], "gold_answer": "Oligohydramnios", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00666", "question": "What is associated with Incisor macrodontia?", "seeds": [ "Incisor macrodontia" ], "gold_answer": "Abnormal incisor morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00667", "question": "What is associated with Bicuspid aortic valve with left-noncoronary cusp fusion?", "seeds": [ "Bicuspid aortic valve with left-noncoronary cusp fusion" ], "gold_answer": "Bicuspid aortic valve", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00668", "question": "What is associated with Characteristic of mass?", "seeds": [ "Characteristic of mass" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00669", "question": "What is associated with Hemorrhoids?", "seeds": [ "Hemorrhoids" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00670", "question": "What phenotype is associated with Medulloblastoma?", "seeds": [ "Medulloblastoma" ], "gold_answer": "Antalgic gait", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00671", "question": "What is associated with Deafness, autosomal dominant 74?", "seeds": [ "Deafness, autosomal dominant 74" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00672", "question": "What is associated with Duplication of the distal phalanx of the 3rd finger?", "seeds": [ "Duplication of the distal phalanx of the 3rd finger" ], "gold_answer": "Duplication of hand bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00673", "question": "What is associated with Abnormal circulating calcitonin concentration?", "seeds": [ "Abnormal circulating calcitonin concentration" ], "gold_answer": "Acute phase response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00674", "question": "What is associated with Decreased urinary uromodulin level?", "seeds": [ "Decreased urinary uromodulin level" ], "gold_answer": "Abnormal urinary uromodulin level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00675", "question": "What is associated with Increased female libido?", "seeds": [ "Increased female libido" ], "gold_answer": "Female sexual dysfunction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00676", "question": "What is associated with Cushing syndrome due to ectopic ACTH secretion?", "seeds": [ "Cushing syndrome due to ectopic ACTH secretion" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00677", "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": "Past medical history", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00678", "question": "What is associated with Autophony?", "seeds": [ "Autophony" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00679", "question": "What is associated with Abnormal circulating aromatic amino acid concentration?", "seeds": [ "Abnormal circulating aromatic amino acid concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00680", "question": "What is associated with Abnormal circulating progesterone level?", "seeds": [ "Abnormal circulating progesterone level" ], "gold_answer": "Abnormal circulating sex hormone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00681", "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_test_00682", "question": "What is associated with Patulous urethra?", "seeds": [ "Patulous urethra" ], "gold_answer": "Abnormality of the urinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00683", "question": "What phenotype is associated with Phosphoserine aminotransferase deficiency?", "seeds": [ "Phosphoserine aminotransferase deficiency" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00684", "question": "What is associated with Congenital hepatic fibrosis?", "seeds": [ "Congenital hepatic fibrosis" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00685", "question": "What is associated with Postsynaptic congenital myasthenic syndrome?", "seeds": [ "Postsynaptic congenital myasthenic syndrome" ], "gold_answer": "Abnormality of facial musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00686", "question": "What is associated with Retinitis?", "seeds": [ "Retinitis" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00687", "question": "What is associated with Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction?", "seeds": [ "Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction" ], "gold_answer": "Abnormal morphology of myocardial trabeculae", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00688", "question": "What is associated with Single interphalangeal crease of fifth finger?", "seeds": [ "Single interphalangeal crease of fifth finger" ], "gold_answer": "Absent phalangeal crease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00689", "question": "What is associated with Xanthoma of bone?", "seeds": [ "Xanthoma of bone" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00690", "question": "What is associated with Positive modified dynamic labral shear test?", "seeds": [ "Positive modified dynamic labral shear test" ], "gold_answer": "Abnormal shoulder physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00691", "question": "What is associated with Intracranial internal carotid artery dissection?", "seeds": [ "Intracranial internal carotid artery dissection" ], "gold_answer": "Carotid artery dissection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00692", "question": "What is associated with Perihilar glomerular hyalinosis?", "seeds": [ "Perihilar glomerular hyalinosis" ], "gold_answer": "Glomerular hyalinosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00693", "question": "What is associated with Macrocephaly/autism syndrome?", "seeds": [ "Macrocephaly/autism syndrome" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00694", "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_test_00695", "question": "What is associated with Long fingers?", "seeds": [ "Long fingers" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00696", "question": "What is associated with Thoracocervical ectopia cordis?", "seeds": [ "Thoracocervical ectopia cordis" ], "gold_answer": "Ectopia cordis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00697", "question": "What phenotype is associated with Fetal trimethadione syndrome?", "seeds": [ "Fetal trimethadione syndrome" ], "gold_answer": "Ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00698", "question": "What is associated with Multiple pulmonary interstitial hyalinized nodules?", "seeds": [ "Multiple pulmonary interstitial hyalinized nodules" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00699", "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_test_00700", "question": "What is associated with Neuropathy, congenital hypomyelinating, 1, autosomal recessive?", "seeds": [ "Neuropathy, congenital hypomyelinating, 1, autosomal recessive" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00701", "question": "What is associated with Eruptive vellus hair cyst?", "seeds": [ "Eruptive vellus hair cyst" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00702", "question": "What phenotype is associated with Cleft velum?", "seeds": [ "Cleft velum" ], "gold_answer": "Poor suck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00703", "question": "What is associated with Hypertrophic osteoarthropathy, primary, autosomal dominant?", "seeds": [ "Hypertrophic osteoarthropathy, primary, autosomal dominant" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00704", "question": "What is associated with Pulmonary hamartoma?", "seeds": [ "Pulmonary hamartoma" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00705", "question": "What is associated with Radial bowing?", "seeds": [ "Radial bowing" ], "gold_answer": "Bowing of the arm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00706", "question": "What is associated with Duplication of the proximal phalanx of hand?", "seeds": [ "Duplication of the proximal phalanx of hand" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00707", "question": "What is associated with Cysticercosis?", "seeds": [ "Cysticercosis" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00708", "question": "What phenotype is associated with Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome?", "seeds": [ "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00709", "question": "What is associated with GM1 gangliosidosis?", "seeds": [ "GM1 gangliosidosis" ], "gold_answer": "Abnormality of limb bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00710", "question": "What is associated with Snail-like ilia?", "seeds": [ "Snail-like ilia" ], "gold_answer": "Abnormal hip bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00711", "question": "What is associated with Congenital disorder of glycosylation, type IIt?", "seeds": [ "Congenital disorder of glycosylation, type IIt" ], "gold_answer": "Central nervous system cyst", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00712", "question": "What is associated with Breathing dysregulation?", "seeds": [ "Breathing dysregulation" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00713", "question": "What is associated with Decreased number of sternal ossification centers?", "seeds": [ "Decreased number of sternal ossification centers" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00714", "question": "What is associated with Retinal degeneration?", "seeds": [ "Retinal degeneration" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00715", "question": "What is associated with Pleural thickening?", "seeds": [ "Pleural thickening" ], "gold_answer": "Abnormal pleura morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00716", "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_test_00717", "question": "What is associated with Multiple glomerular cysts?", "seeds": [ "Multiple glomerular cysts" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00718", "question": "What is associated with Elevated circulating CXCL9 concentration?", "seeds": [ "Elevated circulating CXCL9 concentration" ], "gold_answer": "Abnormal immune serum protein physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00719", "question": "What is associated with Anti-Zic4 antibody positivity?", "seeds": [ "Anti-Zic4 antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00720", "question": "What is associated with Best corrected visual acuity 2.0 LogMAR?", "seeds": [ "Best corrected visual acuity 2.0 LogMAR" ], "gold_answer": "Abnormal best corrected visual acuity test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00721", "question": "What is associated with Absent brainstem auditory responses?", "seeds": [ "Absent brainstem auditory responses" ], "gold_answer": "Abnormal auditory evoked potentials", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00722", "question": "What is associated with Mitochondrial complex IV deficiency, nuclear type 20?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 20" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00723", "question": "What is associated with Tracheal duplication cyst?", "seeds": [ "Tracheal duplication cyst" ], "gold_answer": "Abnormal tracheal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00724", "question": "What is associated with Abnormal ventricular filling?", "seeds": [ "Abnormal ventricular filling" ], "gold_answer": "Abnormal cardiac ventricular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00725", "question": "What is associated with Multifocal seizures?", "seeds": [ "Multifocal seizures" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00726", "question": "What is associated with Mucopolysaccharidosis IVA?", "seeds": [ "Mucopolysaccharidosis IVA" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00727", "question": "What phenotype is associated with Spondyloepimetaphyseal dysplasia, Li-Shao-Li type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, Li-Shao-Li type" ], "gold_answer": "Waddling gait", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00728", "question": "What is associated with Oocyte/zygote/embryo maturation arrest 20?", "seeds": [ "Oocyte/zygote/embryo maturation arrest 20" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00729", "question": "What is associated with Anti-voltage-gated potassium channel antibody positivity?", "seeds": [ "Anti-voltage-gated potassium channel antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00730", "question": "What is associated with Agenesis of the anterior commissure?", "seeds": [ "Agenesis of the anterior commissure" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00731", "question": "What is associated with Thin long bone diaphyses?", "seeds": [ "Thin long bone diaphyses" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00732", "question": "What is associated with High dietary oxalate intake?", "seeds": [ "High dietary oxalate intake" ], "gold_answer": "Nutrition history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00733", "question": "What is associated with Pyuria?", "seeds": [ "Pyuria" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00734", "question": "What is associated with Congenital disorder of glycosylation, type I/IIx?", "seeds": [ "Congenital disorder of glycosylation, type I/IIx" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00735", "question": "What is associated with Ichthyosis hystrix of Curth-Macklin?", "seeds": [ "Ichthyosis hystrix of Curth-Macklin" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00736", "question": "What phenotype is associated with Peroxisome biogenesis disorder 5B?", "seeds": [ "Peroxisome biogenesis disorder 5B" ], "gold_answer": "Unsteady gait", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00737", "question": "What is associated with Myasthenic syndrome, congenital, 20, presynaptic?", "seeds": [ "Myasthenic syndrome, congenital, 20, presynaptic" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00738", "question": "What is associated with Elevated erythrocyte galactose-1-phosphate concentration?", "seeds": [ "Elevated erythrocyte galactose-1-phosphate concentration" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00739", "question": "What is associated with Galloway-Mowat syndrome 2, X-linked?", "seeds": [ "Galloway-Mowat syndrome 2, X-linked" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00740", "question": "What is associated with Cleft maxillary alveolar ridge?", "seeds": [ "Cleft maxillary alveolar ridge" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00741", "question": "What is associated with Decreased circulating beta-carotene concentration?", "seeds": [ "Decreased circulating beta-carotene concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00742", "question": "What phenotype is associated with Bilateral parasagittal parieto-occipital polymicrogyria?", "seeds": [ "Bilateral parasagittal parieto-occipital polymicrogyria" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00743", "question": "What is associated with Intradural spinal lipoma?", "seeds": [ "Intradural spinal lipoma" ], "gold_answer": "Lipoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00744", "question": "What is associated with Absence of epidermal lamellar bodies?", "seeds": [ "Absence of epidermal lamellar bodies" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00745", "question": "What is associated with Recurrent deep organ abscess formation?", "seeds": [ "Recurrent deep organ abscess formation" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00746", "question": "What is associated with Proximal spinal muscular atrophy type 1?", "seeds": [ "Proximal spinal muscular atrophy type 1" ], "gold_answer": "NAIP", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "modifying_germline_mutation_in" } }, { "query_id": "orph_test_00747", "question": "What phenotype is associated with Leber-like hereditary optic neuropathy, autosomal recessive 2?", "seeds": [ "Leber-like hereditary optic neuropathy, autosomal recessive 2" ], "gold_answer": "Centrocecal scotoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00748", "question": "What is associated with X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome?", "seeds": [ "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" ], "gold_answer": "GPRASP2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_00749", "question": "What is associated with Puerpural onset?", "seeds": [ "Puerpural onset" ], "gold_answer": "Clinical course", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00750", "question": "What phenotype is associated with Central neurocytoma?", "seeds": [ "Central neurocytoma" ], "gold_answer": "Coma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00751", "question": "What is associated with Triangular epiphyses of the 4th finger?", "seeds": [ "Triangular epiphyses of the 4th 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_test_00752", "question": "What is associated with Fractured proximal phalanx of digit 5?", "seeds": [ "Fractured proximal phalanx of digit 5" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00753", "question": "What is associated with Long phalanx of finger?", "seeds": [ "Long phalanx of finger" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00754", "question": "What phenotype is associated with Cholestasis, benign recurrent intrahepatic, 2?", "seeds": [ "Cholestasis, benign recurrent intrahepatic, 2" ], "gold_answer": "Elevated circulating alkaline phosphatase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00755", "question": "What is associated with Heart murmur?", "seeds": [ "Heart murmur" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00756", "question": "What is associated with Hypotonia, infantile, with psychomotor retardation?", "seeds": [ "Hypotonia, infantile, with psychomotor retardation" ], "gold_answer": "Abnormal cardiac septum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00757", "question": "What is associated with Elevated bone marrow ring sideroblast count?", "seeds": [ "Elevated bone marrow ring sideroblast count" ], "gold_answer": "Abnormal bone marrow cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00758", "question": "What is associated with Swollen lip?", "seeds": [ "Swollen lip" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00759", "question": "What is associated with Olivopontocerebellar hypoplasia?", "seeds": [ "Olivopontocerebellar hypoplasia" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00760", "question": "What is associated with Gracile syndrome?", "seeds": [ "Gracile syndrome" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00761", "question": "What is associated with Myocarditis?", "seeds": [ "Myocarditis" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00762", "question": "What is associated with Right ventricular regional dyskinesia?", "seeds": [ "Right ventricular regional dyskinesia" ], "gold_answer": "Abnormal cardiac ventricular function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00763", "question": "What phenotype is associated with Spondyloepiphyseal dysplasia tarda with characteristic facies?", "seeds": [ "Spondyloepiphyseal dysplasia tarda with characteristic facies" ], "gold_answer": "Broad nasal tip", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00764", "question": "What phenotype is associated with Short stature and microcephaly with genital anomalies?", "seeds": [ "Short stature and microcephaly with genital anomalies" ], "gold_answer": "Delayed thelarche", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00765", "question": "What is associated with Ependymoblastoma?", "seeds": [ "Ependymoblastoma" ], "gold_answer": "Central primitive neuroectodermal tumor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00766", "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_test_00767", "question": "What is associated with Cleft vertebral arch?", "seeds": [ "Cleft vertebral arch" ], "gold_answer": "Vertebral arch anomaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00768", "question": "What is associated with Absent middle phalanx of 5th finger?", "seeds": [ "Absent middle phalanx of 5th finger" ], "gold_answer": "Aplasia of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00769", "question": "What is associated with Narrow anterio-posterior vertebral body diameter?", "seeds": [ "Narrow anterio-posterior vertebral body diameter" ], "gold_answer": "Vertebral hypoplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00770", "question": "What phenotype is associated with Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum?", "seeds": [ "Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum" ], "gold_answer": "Respiratory insufficiency", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00771", "question": "What phenotype is associated with Bangstad syndrome?", "seeds": [ "Bangstad syndrome" ], "gold_answer": "Cerebral hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00772", "question": "What is associated with Bundle branch block, familial isolated complete right?", "seeds": [ "Bundle branch block, familial isolated complete right" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00773", "question": "What is associated with Defective B cell differentiation?", "seeds": [ "Defective B cell differentiation" ], "gold_answer": "Defective B cell activation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00774", "question": "What phenotype is associated with Spastic paraplegia 86, autosomal recessive?", "seeds": [ "Spastic paraplegia 86, autosomal recessive" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00775", "question": "What is associated with HNF1B-related autosomal dominant tubulointerstitial kidney disease?", "seeds": [ "HNF1B-related autosomal dominant tubulointerstitial kidney disease" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00776", "question": "What phenotype is associated with Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy?", "seeds": [ "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00777", "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_test_00778", "question": "What is associated with Eales disease?", "seeds": [ "Eales disease" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00779", "question": "What phenotype is associated with Moderate hemophilia A?", "seeds": [ "Moderate hemophilia A" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00780", "question": "What is associated with Germinal center B-lymphocyte BCL2 expression?", "seeds": [ "Germinal center B-lymphocyte BCL2 expression" ], "gold_answer": "Abnormal lymph-node cellular antigen expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00781", "question": "What is associated with Tricho-retino-dento-digital syndrome?", "seeds": [ "Tricho-retino-dento-digital syndrome" ], "gold_answer": "Abnormality of hair texture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00782", "question": "What phenotype is associated with Nager syndrome?", "seeds": [ "Nager syndrome" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00783", "question": "What is associated with Renal arteriole lymphocyte endoarterial hypercellularity?", "seeds": [ "Renal arteriole lymphocyte endoarterial hypercellularity" ], "gold_answer": "Abnormal renal arteriole endothelium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00784", "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_test_00785", "question": "What is associated with Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy?", "seeds": [ "Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy" ], "gold_answer": "Ventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00786", "question": "What is associated with Painless mass?", "seeds": [ "Painless mass" ], "gold_answer": "Characteristic of mass", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00787", "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_test_00788", "question": "What is associated with Splenic lipid-laden macrophage infiltration?", "seeds": [ "Splenic lipid-laden macrophage infiltration" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00789", "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_test_00790", "question": "What is associated with Abnormal urine citrate concentration?", "seeds": [ "Abnormal urine citrate concentration" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00791", "question": "What is associated with Neurocardiofaciodigital syndrome?", "seeds": [ "Neurocardiofaciodigital syndrome" ], "gold_answer": "GJA5", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_test_00792", "question": "What is associated with Lymphedema?", "seeds": [ "Lymphedema" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00793", "question": "What is associated with Cone-shaped epiphyses of the 4th finger?", "seeds": [ "Cone-shaped 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_test_00794", "question": "What phenotype is associated with Delayed sleep phase disorder, susceptibility to?", "seeds": [ "Delayed sleep phase disorder, susceptibility to" ], "gold_answer": "Sleep onset insomnia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00795", "question": "What is associated with Trigonocephaly?", "seeds": [ "Trigonocephaly" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00796", "question": "What phenotype is associated with Blepharophimosis with facial and genital anomalies and impaired intellectual development?", "seeds": [ "Blepharophimosis with facial and genital anomalies and impaired intellectual development" ], "gold_answer": "Low anterior hairline", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00797", "question": "What is associated with Loeffler endocarditis?", "seeds": [ "Loeffler endocarditis" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00798", "question": "What is associated with Fetal onset?", "seeds": [ "Fetal onset" ], "gold_answer": "Onset", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00799", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 36?", "seeds": [ "Epileptic encephalopathy, early infantile, 36" ], "gold_answer": "Self-mutilation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00800", "question": "What is associated with Perinuclear antineutrophil antibody positivity?", "seeds": [ "Perinuclear antineutrophil antibody positivity" ], "gold_answer": "Antineutrophil antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00801", "question": "What is associated with Sudden infant death-dysgenesis of the testes syndrome?", "seeds": [ "Sudden infant death-dysgenesis of the testes syndrome" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00802", "question": "What is associated with BRESEK syndrome?", "seeds": [ "BRESEK syndrome" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00803", "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_test_00804", "question": "What is associated with 3-methylglutaconic aciduria type 4?", "seeds": [ "3-methylglutaconic aciduria type 4" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00805", "question": "What is associated with 1-2 toe complete cutaneous syndactyly?", "seeds": [ "1-2 toe complete cutaneous syndactyly" ], "gold_answer": "Toe syndactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00806", "question": "What is associated with Abnormal bronchus morphology?", "seeds": [ "Abnormal bronchus morphology" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00807", "question": "What is associated with Hyperbilirubinemia?", "seeds": [ "Hyperbilirubinemia" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00808", "question": "What is associated with Cutaneous telangiectasia?", "seeds": [ "Cutaneous telangiectasia" ], "gold_answer": "Telangiectasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00809", "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_test_00810", "question": "What is associated with Brugada syndrome?", "seeds": [ "Brugada syndrome" ], "gold_answer": "Abnormal electrophysiology of sinoatrial node origin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00811", "question": "What is associated with Abnormal circulating fatty-acid anion concentration?", "seeds": [ "Abnormal circulating fatty-acid anion concentration" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00812", "question": "What is associated with Postinfectious vasculitis?", "seeds": [ "Postinfectious vasculitis" ], "gold_answer": "Recurrent bacterial infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00813", "question": "What phenotype is associated with Encephalopathy, progressive, early-onset, with brain atrophy and spasticity?", "seeds": [ "Encephalopathy, progressive, early-onset, with brain atrophy and spasticity" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00814", "question": "What is associated with Hypertrichosis, congenital generalized?", "seeds": [ "Hypertrichosis, congenital generalized" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00815", "question": "What phenotype is associated with Epiphyseal dysplasia, multiple, with myopia and conductive deafness?", "seeds": [ "Epiphyseal dysplasia, multiple, with myopia and conductive deafness" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00816", "question": "What is associated with Fungi allergy?", "seeds": [ "Fungi allergy" ], "gold_answer": "Allergy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00817", "question": "What is associated with Pediculosis capitis?", "seeds": [ "Pediculosis capitis" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00818", "question": "What is associated with Growth retardation, developmental delay, coarse facies, and earlydeath?", "seeds": [ "Growth retardation, developmental delay, coarse facies, and earlydeath" ], "gold_answer": "Dilated fourth ventricle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00819", "question": "What is associated with Subfoveal choroidal neovascularization?", "seeds": [ "Subfoveal choroidal neovascularization" ], "gold_answer": "Abnormal morphology of the choroidal vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00820", "question": "What is associated with Impaired intellectual development, anterior maxillary protrusion, and strabismus?", "seeds": [ "Impaired intellectual development, anterior maxillary protrusion, and strabismus" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00821", "question": "What is associated with Microphthalmia, isolated, with corectopia?", "seeds": [ "Microphthalmia, isolated, with corectopia" ], "gold_answer": "Aplasia/Hypoplasia affecting the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00822", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 103?", "seeds": [ "Intellectual developmental disorder, X-linked 103" ], "gold_answer": "Anteverted nares", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00823", "question": "What is associated with Aplasia/hypoplasia involving the skeleton?", "seeds": [ "Aplasia/hypoplasia involving the skeleton" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00824", "question": "What phenotype is associated with GENOCHONDROMATOSIS?", "seeds": [ "GENOCHONDROMATOSIS" ], "gold_answer": "Metaphyseal chondromatosis of humerus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00825", "question": "What is associated with 4-5 finger cutaneous syndactyly?", "seeds": [ "4-5 finger cutaneous syndactyly" ], "gold_answer": "Syndactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00826", "question": "What is associated with Irregular myelin loops?", "seeds": [ "Irregular myelin loops" ], "gold_answer": "Abnormal peripheral myelination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00827", "question": "What is associated with Seborrheic keratosis?", "seeds": [ "Seborrheic keratosis" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00828", "question": "What phenotype is associated with Autosomal recessive omodysplasia?", "seeds": [ "Autosomal recessive omodysplasia" ], "gold_answer": "Rhizomelia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00829", "question": "What is associated with Infantile constant exotropia?", "seeds": [ "Infantile constant exotropia" ], "gold_answer": "Exotropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00830", "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_test_00831", "question": "What is associated with Decreased circulating copper concentration?", "seeds": [ "Decreased circulating copper concentration" ], "gold_answer": "Abnormal blood cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00832", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 73?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 73" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00833", "question": "What phenotype is associated with 14q24.1q24.3 microdeletion syndrome?", "seeds": [ "14q24.1q24.3 microdeletion syndrome" ], "gold_answer": "Ectopic kidney", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00834", "question": "What is associated with Periodic?", "seeds": [ "Periodic" ], "gold_answer": "Clinical course", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00835", "question": "What is associated with Breech presentation?", "seeds": [ "Breech presentation" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00836", "question": "What is associated with Young adult onset?", "seeds": [ "Young adult onset" ], "gold_answer": "Onset", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00837", "question": "What is associated with Hypogonadotropic hypogonadism 27 without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 27 without anosmia" ], "gold_answer": "Abnormal response to gonadotropin-releasing hormone stimulation test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00838", "question": "What is associated with Anti-annexin-V antibody positivity?", "seeds": [ "Anti-annexin-V antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00839", "question": "What is associated with Dermatofibrosarcoma protuberans?", "seeds": [ "Dermatofibrosarcoma protuberans" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00840", "question": "What phenotype is associated with Fused mandibular incisors?", "seeds": [ "Fused mandibular incisors" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00841", "question": "What is associated with Abnormal glomerular visceral epithelial cell morphology?", "seeds": [ "Abnormal glomerular visceral epithelial cell morphology" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00842", "question": "What is associated with Temporomandibular joint adhesion?", "seeds": [ "Temporomandibular joint adhesion" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00843", "question": "What is associated with Abnormal ethmoid bone morphology?", "seeds": [ "Abnormal ethmoid bone morphology" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00844", "question": "What is associated with Thrombophilia due to thrombomodulin defect?", "seeds": [ "Thrombophilia due to thrombomodulin defect" ], "gold_answer": "Venous thrombosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00845", "question": "What is associated with Complete duplication of the distal phalanx of the 5th finger?", "seeds": [ "Complete duplication of the distal 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_test_00846", "question": "What is associated with Punctate corneal epithelial erosions?", "seeds": [ "Punctate corneal epithelial erosions" ], "gold_answer": "Abnormal corneal epithelium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00847", "question": "What is associated with Impaired thrombin-induced platelet aggregation?", "seeds": [ "Impaired thrombin-induced platelet aggregation" ], "gold_answer": "Abnormal platelet function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00848", "question": "What is associated with Broad distal phalanges of all fingers?", "seeds": [ "Broad distal phalanges of all fingers" ], "gold_answer": "Abnormal distal phalanx morphology of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00849", "question": "What is associated with Hepatocellular necrosis?", "seeds": [ "Hepatocellular necrosis" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00850", "question": "What is associated with Pulmonary venous hypertension?", "seeds": [ "Pulmonary venous hypertension" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00851", "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_test_00852", "question": "What is associated with Disorder of thought content?", "seeds": [ "Disorder of thought content" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00853", "question": "What is associated with Neonatal onset?", "seeds": [ "Neonatal onset" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00854", "question": "What is associated with Peroxisome biogenesis disorder 1A (Zellweger)?", "seeds": [ "Peroxisome biogenesis disorder 1A (Zellweger)" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00855", "question": "What is associated with Interstitial emphysema?", "seeds": [ "Interstitial emphysema" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00856", "question": "What is associated with Pseudoxanthoma elasticum, forme fruste?", "seeds": [ "Pseudoxanthoma elasticum, forme fruste" ], "gold_answer": "Arterial stenosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00857", "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_test_00858", "question": "What is associated with Increased CD4:CD8 ratio?", "seeds": [ "Increased CD4:CD8 ratio" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00859", "question": "What is associated with Extensor tendons of finger anomalies?", "seeds": [ "Extensor tendons of finger anomalies" ], "gold_answer": "Flexion contracture of digit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00860", "question": "What is associated with Increased level of D-threitol in plasma?", "seeds": [ "Increased level of D-threitol in plasma" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00861", "question": "What is associated with EMG: continuous motor unit activity at rest?", "seeds": [ "EMG: continuous motor unit activity at rest" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00862", "question": "What is associated with Atrophic, patchy alopecia?", "seeds": [ "Atrophic, patchy alopecia" ], "gold_answer": "Abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00863", "question": "What is associated with Capitate-hamate fusion?", "seeds": [ "Capitate-hamate fusion" ], "gold_answer": "Abnormal capitate bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00864", "question": "What is associated with Aortic regurgitation?", "seeds": [ "Aortic regurgitation" ], "gold_answer": "Abnormal aortic valve physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00865", "question": "What is associated with Vesicovaginal fistula?", "seeds": [ "Vesicovaginal fistula" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00866", "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_test_00867", "question": "What phenotype is associated with Sialuria?", "seeds": [ "Sialuria" ], "gold_answer": "Mild intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00868", "question": "What is associated with Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1?", "seeds": [ "Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00869", "question": "What 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": "Secondary microcephaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00870", "question": "What is associated with Lymphedema-Distichiasis syndrome?", "seeds": [ "Lymphedema-Distichiasis syndrome" ], "gold_answer": "JAG1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_00871", "question": "What phenotype is associated with Deafness-intellectual disability syndrome, Martin-Probst type?", "seeds": [ "Deafness-intellectual disability syndrome, Martin-Probst type" ], "gold_answer": "Vesicovaginal fistula", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00872", "question": "What is associated with Decreased CSF 5-hydroxyindolacetic acid concentration?", "seeds": [ "Decreased CSF 5-hydroxyindolacetic acid concentration" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00873", "question": "What is associated with LIPE-related familial partial lipodystrophy?", "seeds": [ "LIPE-related familial partial lipodystrophy" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00874", "question": "What is associated with Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant?", "seeds": [ "Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00875", "question": "What is associated with Idiopathic pulmonary hemosiderosis?", "seeds": [ "Idiopathic pulmonary hemosiderosis" ], "gold_answer": "Acute phase response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00876", "question": "What is associated with Overriding atrioventricular valve?", "seeds": [ "Overriding atrioventricular valve" ], "gold_answer": "Abnormal connection of the cardiac segments", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00877", "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_test_00878", "question": "What is associated with Pectus carinatum?", "seeds": [ "Pectus carinatum" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00879", "question": "What phenotype is associated with Deafness, autosomal dominant nonsyndromic sensorineural 13?", "seeds": [ "Deafness, autosomal dominant nonsyndromic sensorineural 13" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00880", "question": "What is associated with Non-convulsive status epilepticus without coma?", "seeds": [ "Non-convulsive status epilepticus without coma" ], "gold_answer": "Status epilepticus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00881", "question": "What is associated with Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity?", "seeds": [ "Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00882", "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 urinary purine level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00883", "question": "What is associated with Morgagni diaphragmatic hernia?", "seeds": [ "Morgagni diaphragmatic hernia" ], "gold_answer": "Congenital diaphragmatic hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00884", "question": "What phenotype is associated with Platyspondylic dysplasia, Torrance type?", "seeds": [ "Platyspondylic dysplasia, Torrance type" ], "gold_answer": "Depressed nasal bridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00885", "question": "What is associated with Abnormality nasal septum cartilage morphology?", "seeds": [ "Abnormality nasal septum cartilage morphology" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00886", "question": "What is associated with Irregular olecranon?", "seeds": [ "Irregular olecranon" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00887", "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_test_00888", "question": "What is associated with Atelosteogenesis type I?", "seeds": [ "Atelosteogenesis type I" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00889", "question": "What phenotype is associated with Lobar holoprosencephaly?", "seeds": [ "Lobar holoprosencephaly" ], "gold_answer": "Flat occiput", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00890", "question": "What phenotype is associated with Commissural lip pits?", "seeds": [ "Commissural lip pits" ], "gold_answer": "Commissural lip pit", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00891", "question": "What phenotype is associated with Autoimmune polyendocrine syndrome, type II?", "seeds": [ "Autoimmune polyendocrine syndrome, type II" ], "gold_answer": "Abnormality of the endocardium", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00892", "question": "What phenotype is associated with Olmsted syndrome 1?", "seeds": [ "Olmsted syndrome 1" ], "gold_answer": "Abnormality of the nail", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00893", "question": "What is associated with Pyelonephritis?", "seeds": [ "Pyelonephritis" ], "gold_answer": "Nephritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00894", "question": "What is associated with Trident acetabulum?", "seeds": [ "Trident acetabulum" ], "gold_answer": "Abnormal hip joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00895", "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_test_00896", "question": "What is associated with Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency?", "seeds": [ "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00897", "question": "What is associated with Abnormal liver sonography?", "seeds": [ "Abnormal liver sonography" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00898", "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_test_00899", "question": "What is associated with Absent epiphysis of the proximal phalanx of the 5th toe?", "seeds": [ "Absent epiphysis 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_test_00900", "question": "What is associated with Body ache?", "seeds": [ "Body ache" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00901", "question": "What phenotype is associated with Plasminogen activator inhibitor-1 deficiency?", "seeds": [ "Plasminogen activator inhibitor-1 deficiency" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00902", "question": "What phenotype is associated with Long QT syndrome 6?", "seeds": [ "Long QT syndrome 6" ], "gold_answer": "Torsade de pointes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00903", "question": "What is associated with Reduced liver carboxylesterase 1 activity?", "seeds": [ "Reduced liver carboxylesterase 1 activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00904", "question": "What is associated with Familial clubfoot due to 17q23.1q23.2 microduplication?", "seeds": [ "Familial clubfoot due to 17q23.1q23.2 microduplication" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00905", "question": "What is associated with Impulsivity?", "seeds": [ "Impulsivity" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00906", "question": "What is associated with Shoulder labrum tear?", "seeds": [ "Shoulder labrum tear" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00907", "question": "What phenotype is associated with Kimura disease?", "seeds": [ "Kimura disease" ], "gold_answer": "Lymphadenopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00908", "question": "What phenotype is associated with Pontocerebellar hypoplasia, type 2B?", "seeds": [ "Pontocerebellar hypoplasia, type 2B" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00909", "question": "What is associated with Broad fingertip?", "seeds": [ "Broad fingertip" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00910", "question": "What is associated with Renal medullary hyperechogenicity?", "seeds": [ "Renal medullary hyperechogenicity" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00911", "question": "What phenotype is associated with Palmoplantar keratoderma, Nagashima type?", "seeds": [ "Palmoplantar keratoderma, Nagashima type" ], "gold_answer": "Hyperhidrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00912", "question": "What is associated with Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract?", "seeds": [ "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00913", "question": "What is associated with Congenital nonbullous ichthyosiform erythroderma?", "seeds": [ "Congenital nonbullous ichthyosiform erythroderma" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00914", "question": "What is associated with Jaberi-Elahi syndrome?", "seeds": [ "Jaberi-Elahi syndrome" ], "gold_answer": "Interphalangeal joint contracture of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00915", "question": "What phenotype is associated with Hennekam lymphangiectasia-lymphedema syndrome 2?", "seeds": [ "Hennekam lymphangiectasia-lymphedema syndrome 2" ], "gold_answer": "Ventricular septal defect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00916", "question": "What is associated with Type III truncus arteriosus?", "seeds": [ "Type III truncus arteriosus" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00917", "question": "What phenotype is associated with Terminal osseous dysplasia?", "seeds": [ "Terminal osseous dysplasia" ], "gold_answer": "Epicanthus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00918", "question": "What is associated with Decreased pineal volume?", "seeds": [ "Decreased pineal volume" ], "gold_answer": "Abnormal pineal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00919", "question": "What is associated with Ductal carcinoma in situ?", "seeds": [ "Ductal carcinoma in situ" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00920", "question": "What phenotype is associated with Epilepsy, familial focal, with variable foci?", "seeds": [ "Epilepsy, familial focal, with variable foci" ], "gold_answer": "Focal cortical dysplasia type IIa", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00921", "question": "What is associated with Agenesis of the diaphragm?", "seeds": [ "Agenesis of the diaphragm" ], "gold_answer": "Aplasia/Hypoplasia of the diaphragm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00922", "question": "What is associated with Nail disorder, nonsyndromic congenital, 5?", "seeds": [ "Nail disorder, nonsyndromic congenital, 5" ], "gold_answer": "Palmar hyperhidrosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00923", "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_test_00924", "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 of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00925", "question": "What phenotype is associated with Myopathy, mitochondrial, lethal infantile?", "seeds": [ "Myopathy, mitochondrial, lethal infantile" ], "gold_answer": "Myopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00926", "question": "What is associated with Koebner Phenomenon?", "seeds": [ "Koebner Phenomenon" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00927", "question": "What is associated with Vulvar adenocarcinoma?", "seeds": [ "Vulvar adenocarcinoma" ], "gold_answer": "Vulvar neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00928", "question": "What is associated with Chordoma?", "seeds": [ "Chordoma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00929", "question": "What is associated with Abnormal cecum morphology?", "seeds": [ "Abnormal cecum morphology" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00930", "question": "What phenotype is associated with Sandhoff disease, infantile form?", "seeds": [ "Sandhoff disease, infantile form" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00931", "question": "What is associated with Increased fecal calprotectin level?", "seeds": [ "Increased fecal calprotectin level" ], "gold_answer": "Abnormal stool composition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00932", "question": "What is associated with Triangular shaped phalanges of the 2nd toe?", "seeds": [ "Triangular shaped phalanges of the 2nd toe" ], "gold_answer": "Triangular shaped phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00933", "question": "What is associated with Epileptic encephalopathy, early infantile, 13?", "seeds": [ "Epileptic encephalopathy, early infantile, 13" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00934", "question": "What is associated with Aicardi-Goutieres syndrome 7?", "seeds": [ "Aicardi-Goutieres syndrome 7" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00935", "question": "What is associated with Syndromic X-linked intellectual disability 7?", "seeds": [ "Syndromic X-linked intellectual disability 7" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00936", "question": "What is associated with Underdeveloped superior crus of antihelix?", "seeds": [ "Underdeveloped superior crus of antihelix" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00937", "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_test_00938", "question": "What phenotype is associated with Spermatogenic failure 15?", "seeds": [ "Spermatogenic failure 15" ], "gold_answer": "Male infertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00939", "question": "What is associated with Abnormal circulating aromatic amino acid concentration?", "seeds": [ "Abnormal circulating aromatic amino acid concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00940", "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_test_00941", "question": "What phenotype is associated with Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia?", "seeds": [ "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00942", "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_test_00943", "question": "What is associated with Sydenham chorea?", "seeds": [ "Sydenham chorea" ], "gold_answer": "Abnormal endocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00944", "question": "What is associated with Anorchism?", "seeds": [ "Anorchism" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00945", "question": "What is associated with Webbed neck?", "seeds": [ "Webbed neck" ], "gold_answer": "Abnormal neck morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00946", "question": "What phenotype is associated with Iris pigment epithelium anomalies?", "seeds": [ "Iris pigment epithelium anomalies" ], "gold_answer": "Iris cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00947", "question": "What is associated with GM2-gangliosidosis, AB variant?", "seeds": [ "GM2-gangliosidosis, AB variant" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00948", "question": "What is associated with Congenital muscular dystrophy with intellectual disability?", "seeds": [ "Congenital muscular dystrophy with intellectual disability" ], "gold_answer": "POMT1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_00949", "question": "What is associated with Decreased circulating level of specific antibody?", "seeds": [ "Decreased circulating level of specific antibody" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00950", "question": "What is associated with Incyclophoria?", "seeds": [ "Incyclophoria" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00951", "question": "What is associated with Deafness, autosomal recessive 97?", "seeds": [ "Deafness, autosomal recessive 97" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00952", "question": "What is associated with Split nail?", "seeds": [ "Split nail" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00953", "question": "What is associated with Tarsal osteovalgus?", "seeds": [ "Tarsal osteovalgus" ], "gold_answer": "Abnormal talus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00954", "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_test_00955", "question": "What is associated with Atrophy/Degeneration affecting the brainstem?", "seeds": [ "Atrophy/Degeneration affecting the brainstem" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00956", "question": "What is associated with Positive CSF varicella zoster virus nucleic acid test?", "seeds": [ "Positive CSF varicella zoster virus nucleic acid test" ], "gold_answer": "Positive CSF infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00957", "question": "What is associated with Positive CSF JC-virus nucleic acid test?", "seeds": [ "Positive CSF JC-virus nucleic acid test" ], "gold_answer": "Positive CSF nucleic acid pathogen test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00958", "question": "What is associated with Increased scrotal rugation?", "seeds": [ "Increased scrotal rugation" ], "gold_answer": "Abnormal scrotal rugation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00959", "question": "What phenotype is associated with 49,XXXXY syndrome?", "seeds": [ "49,XXXXY syndrome" ], "gold_answer": "Carious teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00960", "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_test_00961", "question": "What is associated with Ankle hypermobility?", "seeds": [ "Ankle hypermobility" ], "gold_answer": "Joint hypermobility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00962", "question": "What is associated with Diamond-Blackfan anemia-like?", "seeds": [ "Diamond-Blackfan anemia-like" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00963", "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", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00964", "question": "What is associated with Small epiphysis of the distal phalanx of the hallux?", "seeds": [ "Small epiphysis of the distal phalanx of the hallux" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00965", "question": "What is associated with Fractured bone of jaw?", "seeds": [ "Fractured bone of jaw" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00966", "question": "What is associated with Decreased circulating UDP glucose-4-epimerase concentration?", "seeds": [ "Decreased circulating UDP glucose-4-epimerase concentration" ], "gold_answer": "Abnormal circulating UDP glucose-4-epimerase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00967", "question": "What is associated with Reflex seizure?", "seeds": [ "Reflex seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00968", "question": "What is associated with Elevated circulating acylcarnitine concentration?", "seeds": [ "Elevated circulating acylcarnitine concentration" ], "gold_answer": "Abnormal circulating fatty-acid anion concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00969", "question": "What phenotype is associated with Amyloidosis, hereditary systemic 3?", "seeds": [ "Amyloidosis, hereditary systemic 3" ], "gold_answer": "Cardiomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00970", "question": "What is associated with Pigmentary retinopathy?", "seeds": [ "Pigmentary retinopathy" ], "gold_answer": "Abnormal retinal pigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00971", "question": "What phenotype is associated with Narcolepsy type 2?", "seeds": [ "Narcolepsy type 2" ], "gold_answer": "Insomnia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00972", "question": "What is associated with Peroxisome biogenesis disorder 11B?", "seeds": [ "Peroxisome biogenesis disorder 11B" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00973", "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 toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00974", "question": "What phenotype is associated with Peroxisome biogenesis disorder 2A (Zellweger)?", "seeds": [ "Peroxisome biogenesis disorder 2A (Zellweger)" ], "gold_answer": "Upslanted palpebral fissure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00975", "question": "What is associated with Irregularly shaped sperm tail?", "seeds": [ "Irregularly shaped sperm tail" ], "gold_answer": "Abnormal sperm tail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00976", "question": "What is associated with Nail disorder, nonsyndromic congenital, 5?", "seeds": [ "Nail disorder, nonsyndromic congenital, 5" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00977", "question": "What is associated with Isolated fibular hemimelia?", "seeds": [ "Isolated fibular hemimelia" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00978", "question": "What is associated with Cortical thinning of hand bones?", "seeds": [ "Cortical thinning of hand bones" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00979", "question": "What is associated with Abnormal brain positron emission tomography?", "seeds": [ "Abnormal brain positron emission tomography" ], "gold_answer": "Brain imaging abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00980", "question": "What is associated with AICA-ribosiduria due to ATIC deficiency?", "seeds": [ "AICA-ribosiduria due to ATIC deficiency" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00981", "question": "What phenotype is associated with El Hayek-Chahrour neurodevelopmental syndrome?", "seeds": [ "El Hayek-Chahrour neurodevelopmental syndrome" ], "gold_answer": "Low-set ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00982", "question": "What is associated with Dandy-Walker malformation?", "seeds": [ "Dandy-Walker malformation" ], "gold_answer": "Cerebellar vermis hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00983", "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_test_00984", "question": "What is associated with Diamond-Blackfan anemia 16?", "seeds": [ "Diamond-Blackfan anemia 16" ], "gold_answer": "Abnormal cardiac atrium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00985", "question": "What is associated with Decreased circulating hydroxyproline concentration?", "seeds": [ "Decreased circulating hydroxyproline concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00986", "question": "What phenotype is associated with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2?", "seeds": [ "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" ], "gold_answer": "Ptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00987", "question": "What is associated with Abnormal erythrocyte metabolite concentration?", "seeds": [ "Abnormal erythrocyte metabolite concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00988", "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_test_00989", "question": "What is associated with Left axis deviation?", "seeds": [ "Left axis deviation" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00990", "question": "What is associated with Metabolic ketoacidosis?", "seeds": [ "Metabolic ketoacidosis" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00991", "question": "What is associated with Abnormal cerebellar vermis morphology?", "seeds": [ "Abnormal cerebellar vermis morphology" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00992", "question": "What is associated with Anti-factor X antibody positivity?", "seeds": [ "Anti-factor X antibody positivity" ], "gold_answer": "Anti-coagulation factor antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00993", "question": "What is associated with Tetanus?", "seeds": [ "Tetanus" ], "gold_answer": "Abnormal cranial nerve physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_00994", "question": "What is associated with Broad proximal phalanx of the 5th toe?", "seeds": [ "Broad proximal phalanx of the 5th toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_00995", "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_test_00996", "question": "What is associated with Fascicular left ventricular tachycardia?", "seeds": [ "Fascicular left ventricular tachycardia" ], "gold_answer": "Ventricular tachycardia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_00997", "question": "What phenotype is associated with Stickler syndrome, type I?", "seeds": [ "Stickler syndrome, type I" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_00998", "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_test_00999", "question": "What is associated with Gingival calcification?", "seeds": [ "Gingival calcification" ], "gold_answer": "Abnormality of the gingiva", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01000", "question": "What is associated with Immunodeficiency 98 with autoinflammation, X-linked?", "seeds": [ "Immunodeficiency 98 with autoinflammation, X-linked" ], "gold_answer": "Chronic mucocutaneous candidiasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01001", "question": "What is associated with Visual agnosia?", "seeds": [ "Visual agnosia" ], "gold_answer": "Disturbed sensory perception", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01002", "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": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01003", "question": "What is associated with Basal encephalocele?", "seeds": [ "Basal encephalocele" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01004", "question": "What phenotype is associated with Thymic neuroendocrine tumor?", "seeds": [ "Thymic neuroendocrine tumor" ], "gold_answer": "Increased circulating cortisol level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01005", "question": "What is associated with Abnormal affect?", "seeds": [ "Abnormal affect" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01006", "question": "What is associated with Abnormal bursal fluid morphology?", "seeds": [ "Abnormal bursal fluid morphology" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01007", "question": "What is associated with Mucopolysacchariduria?", "seeds": [ "Mucopolysacchariduria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01008", "question": "What phenotype is associated with Neurofibroma?", "seeds": [ "Neurofibroma" ], "gold_answer": "Abnormal cranial nerve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01009", "question": "What is associated with Dental crowding?", "seeds": [ "Dental crowding" ], "gold_answer": "Tooth malposition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01010", "question": "What is associated with Paraganglioma?", "seeds": [ "Paraganglioma" ], "gold_answer": "Neoplasm of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01011", "question": "What is associated with Abnormal doll's eye reflex?", "seeds": [ "Abnormal doll's eye reflex" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01012", "question": "What is associated with Pulmonary fibrosis?", "seeds": [ "Pulmonary fibrosis" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01013", "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": "Partial duplication of phalanx of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01014", "question": "What is associated with Deafness, autosomal dominant 79?", "seeds": [ "Deafness, autosomal dominant 79" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01015", "question": "What is associated with Subacute cutaneous lupus erythematosus?", "seeds": [ "Subacute cutaneous lupus erythematosus" ], "gold_answer": "Aplasia/Hypoplasia of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01016", "question": "What is associated with 14q11.2 microdeletion syndrome?", "seeds": [ "14q11.2 microdeletion syndrome" ], "gold_answer": "Abnormal cardiac ventricle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01017", "question": "What is associated with Diplopia?", "seeds": [ "Diplopia" ], "gold_answer": "Abnormality of binocular vision", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01018", "question": "What is associated with Hypoplastic aortic arch?", "seeds": [ "Hypoplastic aortic arch" ], "gold_answer": "Abnormal aortic arch morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01019", "question": "What phenotype is associated with Trichodental dysplasia?", "seeds": [ "Trichodental dysplasia" ], "gold_answer": "Fine hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01020", "question": "What is associated with Abnormal eyelid movement?", "seeds": [ "Abnormal eyelid movement" ], "gold_answer": "Abnormal eyelid physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01021", "question": "What is associated with Narrow vertebral interpedicular distance?", "seeds": [ "Narrow vertebral interpedicular distance" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01022", "question": "What phenotype is associated with Spondyloarthropathy, susceptibility to, 2?", "seeds": [ "Spondyloarthropathy, susceptibility to, 2" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01023", "question": "What is associated with Elevated circulating apolipoprotein A-IV concentration?", "seeds": [ "Elevated circulating apolipoprotein A-IV concentration" ], "gold_answer": "Increased circulating apolipoprotein circulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01024", "question": "What is associated with Spinocerebellar ataxia 25?", "seeds": [ "Spinocerebellar ataxia 25" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01025", "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_test_01026", "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_test_01027", "question": "What is associated with Storage pool platelet disease?", "seeds": [ "Storage pool platelet disease" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01028", "question": "What is associated with Focal facial dermal dysplasia type III?", "seeds": [ "Focal facial dermal dysplasia type III" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01029", "question": "What is associated with Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration?", "seeds": [ "Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01030", "question": "What is associated with Decreased CD8+ T cell degranulation?", "seeds": [ "Decreased CD8+ T cell degranulation" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01031", "question": "What is associated with Diffuse spongiform leukoencephalopathy?", "seeds": [ "Diffuse spongiform leukoencephalopathy" ], "gold_answer": "Leukoencephalopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01032", "question": "What is associated with Religious delusion?", "seeds": [ "Religious delusion" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01033", "question": "What is associated with Deafness, progressive, with stapes fixation?", "seeds": [ "Deafness, progressive, with stapes fixation" ], "gold_answer": "Abnormal stapes morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01034", "question": "What is associated with Increased large lymphocytes in lymph node?", "seeds": [ "Increased large lymphocytes in lymph node" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01035", "question": "What is associated with Lip tremor?", "seeds": [ "Lip tremor" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01036", "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_test_01037", "question": "What is associated with Dyspareunia?", "seeds": [ "Dyspareunia" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01038", "question": "What is associated with Heart and brain malformation syndrome?", "seeds": [ "Heart and brain malformation syndrome" ], "gold_answer": "Abnormal cardiac septum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01039", "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": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01040", "question": "What is associated with Decreased 3-hydroxyisobutyrate dehydrogenase activity?", "seeds": [ "Decreased 3-hydroxyisobutyrate dehydrogenase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01041", "question": "What is associated with Esotropia?", "seeds": [ "Esotropia" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01042", "question": "What is associated with Dermal atrophy?", "seeds": [ "Dermal atrophy" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01043", "question": "What is associated with Rounded epiphyses?", "seeds": [ "Rounded epiphyses" ], "gold_answer": "Abnormal hand epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01044", "question": "What is associated with Type 1 muscle fiber predominance?", "seeds": [ "Type 1 muscle fiber predominance" ], "gold_answer": "Abnormal muscle fiber-type distribution", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01045", "question": "What phenotype is associated with 1p31p32 microdeletion syndrome?", "seeds": [ "1p31p32 microdeletion syndrome" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01046", "question": "What is associated with Cellular urinary casts?", "seeds": [ "Cellular urinary casts" ], "gold_answer": "Cylindruria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01047", "question": "What is associated with IRIDA syndrome?", "seeds": [ "IRIDA syndrome" ], "gold_answer": "Abnormality of iron homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01048", "question": "What is associated with Neutropenia, severe congenital, 11, autosomal dominant?", "seeds": [ "Neutropenia, severe congenital, 11, autosomal dominant" ], "gold_answer": "Abnormal granulocyte count", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01049", "question": "What is associated with Rectal polyposis?", "seeds": [ "Rectal polyposis" ], "gold_answer": "Neoplasm of the large intestine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01050", "question": "What is associated with Elevated circulating 17-hydroxyprogesterone concentration?", "seeds": [ "Elevated circulating 17-hydroxyprogesterone concentration" ], "gold_answer": "Abnormal circulating progesterone level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01051", "question": "What is associated with Metaphyseal cupping?", "seeds": [ "Metaphyseal cupping" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01052", "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": "Enlarged epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01053", "question": "What is associated with Humeral lytic defects?", "seeds": [ "Humeral lytic defects" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01054", "question": "What is associated with Pili bifurcati?", "seeds": [ "Pili bifurcati" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01055", "question": "What phenotype is associated with Hypotrichosis simplex of the scalp?", "seeds": [ "Hypotrichosis simplex of the scalp" ], "gold_answer": "Hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01056", "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_test_01057", "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": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01058", "question": "What is associated with Retinal atrophy?", "seeds": [ "Retinal atrophy" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01059", "question": "What is associated with Axial osteomalacia?", "seeds": [ "Axial osteomalacia" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01060", "question": "What is associated with Alveolar cell carcinoma?", "seeds": [ "Alveolar cell carcinoma" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01061", "question": "What is associated with Deafness, congenital, with vitiligo and achalasia?", "seeds": [ "Deafness, congenital, with vitiligo and achalasia" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01062", "question": "What is associated with Mirror movements 3?", "seeds": [ "Mirror movements 3" ], "gold_answer": "CFAP52", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01063", "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_test_01064", "question": "What is associated with Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency?", "seeds": [ "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01065", "question": "What is associated with Partial absence of foot?", "seeds": [ "Partial absence of foot" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01066", "question": "What is associated with Atrophy/Degeneration involving the spinal cord?", "seeds": [ "Atrophy/Degeneration involving the spinal cord" ], "gold_answer": "Atrophy/Degeneration affecting the central nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01067", "question": "What is associated with Neurodevelopmental disorder with hypotonia, seizures, and absent language?", "seeds": [ "Neurodevelopmental disorder with hypotonia, seizures, and absent language" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01068", "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_test_01069", "question": "What is associated with Osteoporotic femoral neck?", "seeds": [ "Osteoporotic femoral neck" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01070", "question": "What is associated with Renal failure, progressive, with hypertension?", "seeds": [ "Renal failure, progressive, with hypertension" ], "gold_answer": "Hematuria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01071", "question": "What is associated with Cystic nephroma?", "seeds": [ "Cystic nephroma" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01072", "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_test_01073", "question": "What is associated with Myelodysplasia?", "seeds": [ "Myelodysplasia" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01074", "question": "What is associated with Mechanical ileus?", "seeds": [ "Mechanical ileus" ], "gold_answer": "Ileus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01075", "question": "What is associated with Aplasia of the fovea?", "seeds": [ "Aplasia of the fovea" ], "gold_answer": "Aplasia/Hypoplasia of the fovea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01076", "question": "What phenotype is associated with Arachnoiditis?", "seeds": [ "Arachnoiditis" ], "gold_answer": "Paresthesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01077", "question": "What is associated with Oculoectodermal syndrome?", "seeds": [ "Oculoectodermal syndrome" ], "gold_answer": "Dysregulated negative emotional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01078", "question": "What is associated with Positive respiratory tract infectious agent test?", "seeds": [ "Positive respiratory tract infectious agent test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01079", "question": "What is associated with Tapered toe?", "seeds": [ "Tapered toe" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01080", "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": "Abnormal third toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01081", "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_test_01082", "question": "What is associated with Cylindroma?", "seeds": [ "Cylindroma" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01083", "question": "What is associated with Pointed ulna?", "seeds": [ "Pointed ulna" ], "gold_answer": "Abnormal morphology of ulna", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01084", "question": "What phenotype is associated with Wolcott-Rallison syndrome?", "seeds": [ "Wolcott-Rallison syndrome" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01085", "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_test_01086", "question": "What is associated with Tympanic membrane bulging?", "seeds": [ "Tympanic membrane bulging" ], "gold_answer": "Abnormal tympanic membrane morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01087", "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_test_01088", "question": "What is associated with Alpha-B crystallin-related late-onset myopathy?", "seeds": [ "Alpha-B crystallin-related late-onset myopathy" ], "gold_answer": "CRYAB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01089", "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": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01090", "question": "What is associated with Copper accumulation in brain?", "seeds": [ "Copper accumulation in brain" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01091", "question": "What is associated with Hypermetric horizontal saccades?", "seeds": [ "Hypermetric horizontal saccades" ], "gold_answer": "Hypermetric saccades", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01092", "question": "What is associated with Hypotonia, infantile, with psychomotor retardation and characteristic facies 1?", "seeds": [ "Hypotonia, infantile, with psychomotor retardation and characteristic facies 1" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01093", "question": "What is associated with Immunoglobulin D level in plasma, low?", "seeds": [ "Immunoglobulin D level in plasma, low" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01094", "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_test_01095", "question": "What is associated with Corneal scarring?", "seeds": [ "Corneal scarring" ], "gold_answer": "Scarring", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01096", "question": "What is associated with Schinzel-Giedion midface-retraction syndrome?", "seeds": [ "Schinzel-Giedion midface-retraction syndrome" ], "gold_answer": "Large fontanelles", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01097", "question": "What is associated with HYPERTENSION, DIASTOLIC, RESISTANCE TO?", "seeds": [ "HYPERTENSION, DIASTOLIC, RESISTANCE TO" ], "gold_answer": "Increased blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01098", "question": "What phenotype is associated with Mosaic trisomy 2 syndrome?", "seeds": [ "Mosaic trisomy 2 syndrome" ], "gold_answer": "Cleft lip", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01099", "question": "What is associated with Distal arthrogryposis type 1?", "seeds": [ "Distal arthrogryposis type 1" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01100", "question": "What is associated with Abnormal serum bicarbonate concentration?", "seeds": [ "Abnormal serum bicarbonate concentration" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01101", "question": "What phenotype is associated with Autosomal recessive centronuclear myopathy?", "seeds": [ "Autosomal recessive centronuclear myopathy" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01102", "question": "What is associated with Duplication of the distal phalanx of the hallux?", "seeds": [ "Duplication of the distal phalanx of the hallux" ], "gold_answer": "Abnormal distal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01103", "question": "What is associated with Arcuate artery lumen cholesterol emboli?", "seeds": [ "Arcuate artery lumen cholesterol emboli" ], "gold_answer": "Abnormal arcuate artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01104", "question": "What is associated with Abnormally low-pitched voice?", "seeds": [ "Abnormally low-pitched voice" ], "gold_answer": "Abnormal Intonation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01105", "question": "What is associated with Abnormal pulmonary interstitial morphology?", "seeds": [ "Abnormal pulmonary interstitial morphology" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01106", "question": "What is associated with Abnormal posterior cranial fossa morphology?", "seeds": [ "Abnormal posterior cranial fossa morphology" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01107", "question": "What is associated with Circulating immune complexes?", "seeds": [ "Circulating immune complexes" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01108", "question": "What is associated with Elevated circulating butyrylcarnitine concentration?", "seeds": [ "Elevated circulating butyrylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01109", "question": "What is associated with Positive bloodstream cryptococcus culture?", "seeds": [ "Positive bloodstream cryptococcus culture" ], "gold_answer": "Fungal bloodstream infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01110", "question": "What is associated with Typical absence status epilepticus?", "seeds": [ "Typical absence status epilepticus" ], "gold_answer": "Non-convulsive status epilepticus without coma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01111", "question": "What is associated with Increased CSF citrulline concentration?", "seeds": [ "Increased CSF citrulline concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01112", "question": "What is associated with Polyarticular arthropathy?", "seeds": [ "Polyarticular arthropathy" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01113", "question": "What is associated with Epidermolysis bullosa simplex, autosomal recessive 2?", "seeds": [ "Epidermolysis bullosa simplex, autosomal recessive 2" ], "gold_answer": "Scarring", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01114", "question": "What is associated with Increased HDL cholesterol concentration?", "seeds": [ "Increased HDL cholesterol concentration" ], "gold_answer": "Abnormal HDL cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01115", "question": "What is associated with Annular pancreas?", "seeds": [ "Annular pancreas" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01116", "question": "What phenotype is associated with Li-Ghorgani-Weisz-Hubshman syndrome?", "seeds": [ "Li-Ghorgani-Weisz-Hubshman syndrome" ], "gold_answer": "Thick vermilion border", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01117", "question": "What is associated with Macrovesicular hepatic steatosis?", "seeds": [ "Macrovesicular hepatic steatosis" ], "gold_answer": "Storage in hepatocytes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01118", "question": "What is associated with Perinephric abscess?", "seeds": [ "Perinephric abscess" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01119", "question": "What is associated with Abnormality of the epiphysis of the femoral head?", "seeds": [ "Abnormality of the epiphysis of the femoral head" ], "gold_answer": "Abnormal femoral head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01120", "question": "What phenotype is associated with Alpha-mannosidosis, adult form?", "seeds": [ "Alpha-mannosidosis, adult form" ], "gold_answer": "Hallucinations", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01121", "question": "What is associated with Abnormal mast cell morphology?", "seeds": [ "Abnormal mast cell morphology" ], "gold_answer": "Abnormal granulocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01122", "question": "What is associated with CHST3-related skeletal dysplasia?", "seeds": [ "CHST3-related skeletal dysplasia" ], "gold_answer": "Aplasia/Hypoplasia involving the metacarpal bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01123", "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": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01124", "question": "What is associated with Hermansky-Pudlak syndrome due to BLOC-2 deficiency?", "seeds": [ "Hermansky-Pudlak syndrome due to BLOC-2 deficiency" ], "gold_answer": "HPS5", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01125", "question": "What is associated with Abnormal circulating IgG concentration?", "seeds": [ "Abnormal circulating IgG concentration" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01126", "question": "What is associated with Absence of the third cerebral ventricle?", "seeds": [ "Absence of the third cerebral ventricle" ], "gold_answer": "Abnormal cerebral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01127", "question": "What is associated with Abnormal posterior periventricular white matter morphology?", "seeds": [ "Abnormal posterior periventricular white matter morphology" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01128", "question": "What is associated with Predominant small joint localization?", "seeds": [ "Predominant small joint localization" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01129", "question": "What is associated with Tubulointerstitial nephritis?", "seeds": [ "Tubulointerstitial nephritis" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01130", "question": "What is associated with RASA1-related capillary malformation-arteriovenous malformation?", "seeds": [ "RASA1-related capillary malformation-arteriovenous malformation" ], "gold_answer": "RASA1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01131", "question": "What is associated with Increased circulating IgA concentration?", "seeds": [ "Increased circulating IgA concentration" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01132", "question": "What is associated with Osteoid osteoma?", "seeds": [ "Osteoid osteoma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01133", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 91?", "seeds": [ "Developmental and epileptic encephalopathy 91" ], "gold_answer": "Hoarse voice", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01134", "question": "What is associated with Mosaic central corneal dystrophy?", "seeds": [ "Mosaic central corneal dystrophy" ], "gold_answer": "Corneal dystrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01135", "question": "What phenotype is associated with Mitochondrial complex II deficiency, nuclear type 3?", "seeds": [ "Mitochondrial complex II deficiency, nuclear type 3" ], "gold_answer": "Dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01136", "question": "What is associated with Cortical radial artery intraluminal organized thrombi?", "seeds": [ "Cortical radial artery intraluminal organized thrombi" ], "gold_answer": "Abnormal cortical radial artery lumen morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01137", "question": "What phenotype is associated with Peroxisomal fatty acyl-CoA reductase 1 disorder?", "seeds": [ "Peroxisomal fatty acyl-CoA reductase 1 disorder" ], "gold_answer": "Coarse facial features", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01138", "question": "What is associated with 1-3 finger cutaneous syndactyly?", "seeds": [ "1-3 finger cutaneous syndactyly" ], "gold_answer": "Syndactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01139", "question": "What is associated with Typified by complete penetrance?", "seeds": [ "Typified by complete penetrance" ], "gold_answer": "Inheritance qualifier", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01140", "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_test_01141", "question": "What phenotype is associated with Transaldolase deficiency?", "seeds": [ "Transaldolase deficiency" ], "gold_answer": "Short philtrum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01142", "question": "What is associated with Aplasia/Hypoplasia of the thumb?", "seeds": [ "Aplasia/Hypoplasia of the thumb" ], "gold_answer": "Aplasia/hypoplasia involving bones of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01143", "question": "What is associated with Chronic absent circulating IgD?", "seeds": [ "Chronic absent circulating IgD" ], "gold_answer": "Abnormal circulating IgD concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01144", "question": "What phenotype is associated with Acute monoblastic/monocytic leukemia?", "seeds": [ "Acute monoblastic/monocytic leukemia" ], "gold_answer": "Acute monocytic leukemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01145", "question": "What is associated with Retinopathy, pericentral pigmentary, dominant?", "seeds": [ "Retinopathy, pericentral pigmentary, dominant" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01146", "question": "What is associated with Abnormal second heart sound?", "seeds": [ "Abnormal second heart sound" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01147", "question": "What is associated with Abnormality of the proximal fibular epiphysis?", "seeds": [ "Abnormality of the proximal fibular epiphysis" ], "gold_answer": "Abnormal fibular epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01148", "question": "What is associated with Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)?", "seeds": [ "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01149", "question": "What is associated with Bartter syndrome, type 3?", "seeds": [ "Bartter syndrome, type 3" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01150", "question": "What is associated with Penile hypospadias?", "seeds": [ "Penile hypospadias" ], "gold_answer": "Abnormal male urethral meatus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01151", "question": "What is associated with Inflammatory skin and bowel disease, neonatal, 1?", "seeds": [ "Inflammatory skin and bowel disease, neonatal, 1" ], "gold_answer": "Abnormal small intestinal mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01152", "question": "What is associated with Bullet-shaped middle phalanx of the 4th toe?", "seeds": [ "Bullet-shaped middle phalanx of the 4th toe" ], "gold_answer": "Abnormal fourth toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01153", "question": "What is associated with Hip adductor weakness?", "seeds": [ "Hip adductor weakness" ], "gold_answer": "Limb-girdle muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01154", "question": "What is associated with Spondyloepimetaphyseal dysplasia, matrilin-3 related?", "seeds": [ "Spondyloepimetaphyseal dysplasia, matrilin-3 related" ], "gold_answer": "Abnormal ilium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01155", "question": "What is associated with Gaucher disease?", "seeds": [ "Gaucher disease" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01156", "question": "What is associated with Glycosylphosphatidylinositol biosynthesis defect 11?", "seeds": [ "Glycosylphosphatidylinositol biosynthesis defect 11" ], "gold_answer": "Abnormality of upper lip vermillion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01157", "question": "What is associated with Corneal dystrophy, posterior polymorphous, 3?", "seeds": [ "Corneal dystrophy, posterior polymorphous, 3" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01158", "question": "What phenotype is associated with 2p15p16.1 microdeletion syndrome?", "seeds": [ "2p15p16.1 microdeletion syndrome" ], "gold_answer": "Hypogonadism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01159", "question": "What is associated with Developmental and epileptic encephalopathy 110?", "seeds": [ "Developmental and epileptic encephalopathy 110" ], "gold_answer": "Apraxia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01160", "question": "What is associated with Increased CSF albumin concentration?", "seeds": [ "Increased CSF albumin concentration" ], "gold_answer": "Abnormal CSF albumin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01161", "question": "What is associated with Anti-aquaporin 4 antibody positivity?", "seeds": [ "Anti-aquaporin 4 antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01162", "question": "What is associated with Hypoplastic male external genitalia?", "seeds": [ "Hypoplastic male external genitalia" ], "gold_answer": "External genital hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01163", "question": "What is associated with Achondroplasia, so-called, and severe combined immunodeficiency?", "seeds": [ "Achondroplasia, so-called, and severe combined immunodeficiency" ], "gold_answer": "Metaphyseal dysplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01164", "question": "What is associated with Increased anti-dairy protein IgE antibody level?", "seeds": [ "Increased anti-dairy protein IgE antibody level" ], "gold_answer": "Increased circulating specific IgE antibody concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01165", "question": "What phenotype is associated with Multiple tumor-associated chromosome region 1?", "seeds": [ "Multiple tumor-associated chromosome region 1" ], "gold_answer": "Cryptorchidism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01166", "question": "What is associated with Abnormal lymphocyte count?", "seeds": [ "Abnormal lymphocyte count" ], "gold_answer": "Abnormal leukocyte count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01167", "question": "What phenotype is associated with Mayer-Rokitansky-Küster-Hauser syndrome?", "seeds": [ "Mayer-Rokitansky-Küster-Hauser syndrome" ], "gold_answer": "Bipolar affective disorder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01168", "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_test_01169", "question": "What is associated with Broad phalanges of the 5th finger?", "seeds": [ "Broad 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_test_01170", "question": "What is associated with Palmar telangiectasia?", "seeds": [ "Palmar telangiectasia" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01171", "question": "What is associated with Cardioacrofacial dysplasia 1?", "seeds": [ "Cardioacrofacial dysplasia 1" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01172", "question": "What is associated with Pancreatic squamous cell carcinoma?", "seeds": [ "Pancreatic squamous cell carcinoma" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01173", "question": "What is associated with Abnormal stool urobilinogen concentration?", "seeds": [ "Abnormal stool urobilinogen concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01174", "question": "What phenotype is associated with Antiphospholipid syndrome, familial?", "seeds": [ "Antiphospholipid syndrome, familial" ], "gold_answer": "Scleritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01175", "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_test_01176", "question": "What is associated with X-linked intellectual disability, Schimke type?", "seeds": [ "X-linked intellectual disability, Schimke type" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01177", "question": "What is associated with Increased CSF homovanillic acid concentration?", "seeds": [ "Increased CSF homovanillic acid concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01178", "question": "What is associated with Progressive truncal ataxia?", "seeds": [ "Progressive truncal ataxia" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01179", "question": "What is associated with Melanoma-Pancreatic cancer syndrome?", "seeds": [ "Melanoma-Pancreatic cancer syndrome" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01180", "question": "What is associated with Aplasia/Hypoplasia of the external ear?", "seeds": [ "Aplasia/Hypoplasia of the external ear" ], "gold_answer": "Aplasia/Hypoplasia of the ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01181", "question": "What phenotype is associated with IMINOGLYCINURIA?", "seeds": [ "IMINOGLYCINURIA" ], "gold_answer": "Hyperglycinuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01182", "question": "What is associated with Epiphyseal dysplasia?", "seeds": [ "Epiphyseal dysplasia" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01183", "question": "What is associated with Lipoyltransferase 1 deficiency?", "seeds": [ "Lipoyltransferase 1 deficiency" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01184", "question": "What is associated with Fragmentation of the epiphysis of the proximal phalanx of the 5th finger?", "seeds": [ "Fragmentation of the epiphysis of the proximal phalanx of the 5th finger" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01185", "question": "What is associated with Noonan syndrome 7?", "seeds": [ "Noonan syndrome 7" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01186", "question": "What is associated with Rachitic rosary?", "seeds": [ "Rachitic rosary" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01187", "question": "What is associated with Bullet-shaped distal phalanx of the 2nd toe?", "seeds": [ "Bullet-shaped 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_test_01188", "question": "What phenotype is associated with Spermatogenic failure 51?", "seeds": [ "Spermatogenic failure 51" ], "gold_answer": "Absent sperm flagella", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01189", "question": "What is associated with Patchy sclerosis of the distal phalanx of the 5th finger?", "seeds": [ "Patchy sclerosis of the distal 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_test_01190", "question": "What is associated with Decreased CSF 5-methyltetrahydrofolate concentration?", "seeds": [ "Decreased CSF 5-methyltetrahydrofolate concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01191", "question": "What phenotype is associated with Metaphyseal chondrodysplasia, Pena type?", "seeds": [ "Metaphyseal chondrodysplasia, Pena type" ], "gold_answer": "Metaphyseal chondrodysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01192", "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 toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01193", "question": "What is associated with Pancreatic cancer, susceptibility to, 1?", "seeds": [ "Pancreatic cancer, susceptibility to, 1" ], "gold_answer": "Neoplasm of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01194", "question": "What is associated with Combined pre- and post-capillary pulmonary hypertension?", "seeds": [ "Combined pre- and post-capillary pulmonary hypertension" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01195", "question": "What is associated with Hyporeflexia of lower limbs?", "seeds": [ "Hyporeflexia of lower limbs" ], "gold_answer": "Hyporeflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01196", "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_test_01197", "question": "What is associated with Jaberi-Elahi syndrome?", "seeds": [ "Jaberi-Elahi syndrome" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01198", "question": "What is associated with Premature ovarian failure 9?", "seeds": [ "Premature ovarian failure 9" ], "gold_answer": "Abnormal ovarian morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01199", "question": "What is associated with Elevated urinary coproporphyrin level?", "seeds": [ "Elevated urinary coproporphyrin level" ], "gold_answer": "Abnormal urinary organic compound level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01200", "question": "What is associated with Anti-cryptococcal antibody positivity?", "seeds": [ "Anti-cryptococcal antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01201", "question": "What phenotype is associated with 48,XXXY syndrome?", "seeds": [ "48,XXXY syndrome" ], "gold_answer": "Vesicovaginal fistula", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01202", "question": "What is associated with Supranuclear ophthalmoplegia?", "seeds": [ "Supranuclear ophthalmoplegia" ], "gold_answer": "Ophthalmoplegia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01203", "question": "What is associated with Vesicoureteral reflux 8?", "seeds": [ "Vesicoureteral reflux 8" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01204", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 76?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 76" ], "gold_answer": "Abnormal nasal tip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01205", "question": "What is associated with Cutaneous leiomyosarcoma?", "seeds": [ "Cutaneous leiomyosarcoma" ], "gold_answer": "Sarcoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01206", "question": "What is associated with Undifferentiated pleomorphic sarcoma?", "seeds": [ "Undifferentiated pleomorphic sarcoma" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01207", "question": "What is associated with Predominantly lower limb lymphedema?", "seeds": [ "Predominantly lower limb lymphedema" ], "gold_answer": "Lymphedema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01208", "question": "What phenotype is associated with SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3?", "seeds": [ "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3" ], "gold_answer": "Freckling", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01209", "question": "What is associated with Epileptic encephalopathy, early infantile, 63?", "seeds": [ "Epileptic encephalopathy, early infantile, 63" ], "gold_answer": "Craniofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01210", "question": "What is associated with Gingival hyperkeratosis?", "seeds": [ "Gingival hyperkeratosis" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01211", "question": "What phenotype is associated with Snowflake vitreoretinal degeneration?", "seeds": [ "Snowflake vitreoretinal degeneration" ], "gold_answer": "Corneal guttata", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01212", "question": "What is associated with Pectus excavatum-macrocephaly-dysplastic nails syndrome?", "seeds": [ "Pectus excavatum-macrocephaly-dysplastic nails syndrome" ], "gold_answer": "Abnormal midface morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01213", "question": "What is associated with Spermatogenic failure 53?", "seeds": [ "Spermatogenic failure 53" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01214", "question": "What is associated with Cone-shaped epiphyses of the 4th finger?", "seeds": [ "Cone-shaped epiphyses of the 4th finger" ], "gold_answer": "Abnormal 4th finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01215", "question": "What is associated with Perifolliculitis capitis abscedens et suffodiens, familial?", "seeds": [ "Perifolliculitis capitis abscedens et suffodiens, familial" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01216", "question": "What is associated with Chest pain described as ripping or tearing?", "seeds": [ "Chest pain described as ripping or tearing" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01217", "question": "What is associated with Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome?", "seeds": [ "Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome" ], "gold_answer": "Abnormal atrioventricular valve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01218", "question": "What is associated with Abnormal glomerular capillary lumen morphology?", "seeds": [ "Abnormal glomerular capillary lumen morphology" ], "gold_answer": "Abnormal glomerular capillary morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01219", "question": "What is associated with Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)?", "seeds": [ "Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)" ], "gold_answer": "Peripheral neuropathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01220", "question": "What is associated with Osteopetrosis?", "seeds": [ "Osteopetrosis" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01221", "question": "What is associated with Complete duplication of the proximal phalanges of the hand?", "seeds": [ "Complete duplication of the proximal phalanges of the hand" ], "gold_answer": "Complete duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01222", "question": "What is associated with Lissencephaly 5?", "seeds": [ "Lissencephaly 5" ], "gold_answer": "Abnormal cerebral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01223", "question": "What is associated with Abnormal B cell physiology?", "seeds": [ "Abnormal B cell physiology" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01224", "question": "What is associated with Leber-like hereditary optic neuropathy, autosomal recessive 2?", "seeds": [ "Leber-like hereditary optic neuropathy, autosomal recessive 2" ], "gold_answer": "Scotoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01225", "question": "What is associated with Small cervical vertebral bodies?", "seeds": [ "Small cervical vertebral bodies" ], "gold_answer": "Aplasia/Hypoplasia of the vertebrae", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01226", "question": "What is associated with Multiple small vertebral fractures?", "seeds": [ "Multiple small vertebral fractures" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01227", "question": "What is associated with Renal artery duplication?", "seeds": [ "Renal artery duplication" ], "gold_answer": "Abnormal renal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01228", "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_test_01229", "question": "What is associated with Esophageal squamous papilloma?", "seeds": [ "Esophageal squamous papilloma" ], "gold_answer": "Neoplasm of head and neck", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01230", "question": "What phenotype is associated with CHILD syndrome?", "seeds": [ "CHILD syndrome" ], "gold_answer": "Short metacarpal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01231", "question": "What is associated with Adenocarcinoma of the large intestine?", "seeds": [ "Adenocarcinoma of the large intestine" ], "gold_answer": "Adenocarcinoma of the intestines", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01232", "question": "What is associated with Deviation of the thumb?", "seeds": [ "Deviation of the thumb" ], "gold_answer": "Deviation of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01233", "question": "What is associated with Periodic fever?", "seeds": [ "Periodic fever" ], "gold_answer": "Abnormality of temperature regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01234", "question": "What phenotype is associated with Neurodevelopmental disorder, X-linked, with craniofacial abnormalities?", "seeds": [ "Neurodevelopmental disorder, X-linked, with craniofacial abnormalities" ], "gold_answer": "Encephalocele", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01235", "question": "What is associated with Four-vessel umbilical cord?", "seeds": [ "Four-vessel umbilical cord" ], "gold_answer": "Abnormality of the umbilical cord", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01236", "question": "What is associated with Best corrected visual acuity 0.2 LogMAR?", "seeds": [ "Best corrected visual acuity 0.2 LogMAR" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01237", "question": "What is associated with Focal lupus nephritis?", "seeds": [ "Focal lupus nephritis" ], "gold_answer": "Lupus nephritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01238", "question": "What is associated with Usher syndrome type 1?", "seeds": [ "Usher syndrome type 1" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01239", "question": "What is associated with Abnormal glomerular parietal epithelial cell morphology?", "seeds": [ "Abnormal glomerular parietal epithelial cell morphology" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01240", "question": "What is associated with Renal artery atherosclerosis?", "seeds": [ "Renal artery atherosclerosis" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01241", "question": "What is associated with Enlarged epiphyses of the toes?", "seeds": [ "Enlarged epiphyses of the toes" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01242", "question": "What is associated with Cervical vertebrae, agenesis of?", "seeds": [ "Cervical vertebrae, agenesis of" ], "gold_answer": "Aplasia/Hypoplasia of the cervical spine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01243", "question": "What is associated with Time agnosia?", "seeds": [ "Time agnosia" ], "gold_answer": "Abnormal interpretation of external stimuli", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01244", "question": "What is associated with CEDNIK syndrome?", "seeds": [ "CEDNIK syndrome" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01245", "question": "What phenotype is associated with Fibrodysplasia ossificans progressiva?", "seeds": [ "Fibrodysplasia ossificans progressiva" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01246", "question": "What phenotype is associated with Dystonia with cerebellar atrophy?", "seeds": [ "Dystonia with cerebellar atrophy" ], "gold_answer": "Cerebellar atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01247", "question": "What is associated with Polycystic kidney disease 8?", "seeds": [ "Polycystic kidney disease 8" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01248", "question": "What is associated with Fulminant hepatic failure?", "seeds": [ "Fulminant hepatic failure" ], "gold_answer": "Hepatic failure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01249", "question": "What is associated with Leukodystrophy, hypomyelinating, 28?", "seeds": [ "Leukodystrophy, hypomyelinating, 28" ], "gold_answer": "Limb hypertonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01250", "question": "What phenotype is associated with Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant?", "seeds": [ "Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01251", "question": "What is associated with Abnormal circulating eicosanoid concentration?", "seeds": [ "Abnormal circulating eicosanoid concentration" ], "gold_answer": "Abnormal circulating unsaturated fatty acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01252", "question": "What is associated with Radioulnar interosseous membrane tear?", "seeds": [ "Radioulnar interosseous membrane tear" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01253", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2Z?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2Z" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01254", "question": "What is associated with Curved distal phalanx of the 4th toe?", "seeds": [ "Curved distal phalanx of the 4th toe" ], "gold_answer": "Abnormality of the distal phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01255", "question": "What is associated with Prekallikrein deficiency?", "seeds": [ "Prekallikrein deficiency" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01256", "question": "What is associated with Hunter-Mcalpine craniosynostosis syndrome?", "seeds": [ "Hunter-Mcalpine craniosynostosis syndrome" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01257", "question": "What is associated with Stomach cancer?", "seeds": [ "Stomach cancer" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01258", "question": "What is associated with Achromatopsia?", "seeds": [ "Achromatopsia" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01259", "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_test_01260", "question": "What is associated with Abnormal pituitary glycoprotein hormone alpha subunit level?", "seeds": [ "Abnormal pituitary glycoprotein hormone alpha subunit level" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01261", "question": "What is associated with Short stature-brachydactyly-obesity-global developmental delay syndrome?", "seeds": [ "Short stature-brachydactyly-obesity-global developmental delay syndrome" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01262", "question": "What is associated with Frontal cortical atrophy?", "seeds": [ "Frontal cortical atrophy" ], "gold_answer": "Cerebral atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01263", "question": "What is associated with Wilson sign?", "seeds": [ "Wilson sign" ], "gold_answer": "Knee pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01264", "question": "What is associated with Visceral hallucination?", "seeds": [ "Visceral hallucination" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01265", "question": "What is associated with Autism susceptibility 1?", "seeds": [ "Autism susceptibility 1" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01266", "question": "What phenotype is associated with Syndactyly type 4?", "seeds": [ "Syndactyly type 4" ], "gold_answer": "6 metacarpals", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01267", "question": "What is associated with Bilateral frontoparietal polymicrogyria?", "seeds": [ "Bilateral frontoparietal polymicrogyria" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01268", "question": "What is associated with Thumb hypoplasia grade 1?", "seeds": [ "Thumb hypoplasia grade 1" ], "gold_answer": "Short thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01269", "question": "What phenotype is associated with Silver-Russell syndrome 1?", "seeds": [ "Silver-Russell syndrome 1" ], "gold_answer": "Short distal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01270", "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_test_01271", "question": "What is associated with Decreased glucose-6-phosphate dehydrogenase level in red blood cells?", "seeds": [ "Decreased glucose-6-phosphate dehydrogenase level in red blood cells" ], "gold_answer": "Abnormal glucose-6-phosphate dehydrogenase level in red blood cells", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01272", "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": "Cleft soft palate", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01273", "question": "What is associated with Reduced alpha-2-antiplasmin activity?", "seeds": [ "Reduced alpha-2-antiplasmin activity" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01274", "question": "What is associated with Abnormal coagulation factor V activity?", "seeds": [ "Abnormal coagulation factor V activity" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01275", "question": "What is associated with Atrichia with papular lesions?", "seeds": [ "Atrichia with papular lesions" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01276", "question": "What is associated with Abdominal adhesions?", "seeds": [ "Abdominal adhesions" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01277", "question": "What is associated with Nephronophthisis 15?", "seeds": [ "Nephronophthisis 15" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01278", "question": "What is associated with Inflammatory bowel disease 1, Crohn disease?", "seeds": [ "Inflammatory bowel disease 1, Crohn disease" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01279", "question": "What is associated with Nodular inflammatory vasculitis?", "seeds": [ "Nodular inflammatory vasculitis" ], "gold_answer": "Vasculitis by histology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01280", "question": "What is associated with Deafness, autosomal recessive 45?", "seeds": [ "Deafness, autosomal recessive 45" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01281", "question": "What is associated with Renal interstitial mononuclear cell infiltration?", "seeds": [ "Renal interstitial mononuclear cell infiltration" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01282", "question": "What is associated with Darier's sign?", "seeds": [ "Darier's sign" ], "gold_answer": "Urticaria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01283", "question": "What phenotype is associated with Trichothiodystrophy 4, nonphotosensitive?", "seeds": [ "Trichothiodystrophy 4, nonphotosensitive" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01284", "question": "What is associated with Palmoplantar location?", "seeds": [ "Palmoplantar location" ], "gold_answer": "Localized", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01285", "question": "What 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": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01286", "question": "What is associated with Bleeding disorder, platelet-type, 20?", "seeds": [ "Bleeding disorder, platelet-type, 20" ], "gold_answer": "Subcutaneous hemorrhage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01287", "question": "What is associated with Positive shoulder apprehension test?", "seeds": [ "Positive shoulder apprehension test" ], "gold_answer": "Abnormal shoulder physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01288", "question": "What is associated with Against the rule astigmatism?", "seeds": [ "Against the rule astigmatism" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01289", "question": "What is associated with Retinal arteriolar tortuosity?", "seeds": [ "Retinal arteriolar tortuosity" ], "gold_answer": "Abnormal retinal arterial/arteriolar morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01290", "question": "What is associated with Hamartoma of the eye?", "seeds": [ "Hamartoma of the eye" ], "gold_answer": "Hamartoma of the orbital region", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01291", "question": "What is associated with Deeply set eye?", "seeds": [ "Deeply set eye" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01292", "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_test_01293", "question": "What is associated with Analbuminemia?", "seeds": [ "Analbuminemia" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01294", "question": "What is associated with Congenital disorder of glycosylation, type Iw?", "seeds": [ "Congenital disorder of glycosylation, type Iw" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01295", "question": "What is associated with Periodic paralysis?", "seeds": [ "Periodic paralysis" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01296", "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_test_01297", "question": "What is associated with Aplasia/Hypoplasia of the eyebrow?", "seeds": [ "Aplasia/Hypoplasia of the eyebrow" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01298", "question": "What is associated with Patchy sclerosis of the middle phalanx of the 3rd finger?", "seeds": [ "Patchy 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_test_01299", "question": "What is associated with Skeletal dysplasia with delayed epiphyseal and carpal bone ossification?", "seeds": [ "Skeletal dysplasia with delayed epiphyseal and carpal bone ossification" ], "gold_answer": "Short phalanx of the thumb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01300", "question": "What phenotype is associated with HELLP syndrome?", "seeds": [ "HELLP syndrome" ], "gold_answer": "Hypertension", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01301", "question": "What is associated with Purulent drainage from skin?", "seeds": [ "Purulent drainage from skin" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01302", "question": "What is associated with Decreased circulating IgG2 concentration?", "seeds": [ "Decreased circulating IgG2 concentration" ], "gold_answer": "Decreased circulating IgG subclass concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01303", "question": "What phenotype is associated with ALG8-CDG?", "seeds": [ "ALG8-CDG" ], "gold_answer": "Nonimmune hydrops fetalis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01304", "question": "What is associated with Abnormal urine protein level?", "seeds": [ "Abnormal urine protein level" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01305", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 11?", "seeds": [ "Epileptic encephalopathy, early infantile, 11" ], "gold_answer": "Hyperkinetic movements", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01306", "question": "What is associated with Infection-related hemolytic uremic syndrome?", "seeds": [ "Infection-related hemolytic uremic syndrome" ], "gold_answer": "Retinopathy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01307", "question": "What is associated with Dorsal wrist pain?", "seeds": [ "Dorsal wrist pain" ], "gold_answer": "Upper limb pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01308", "question": "What is associated with Aplasia of the upper vagina?", "seeds": [ "Aplasia of the upper vagina" ], "gold_answer": "Abnormal vagina morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01309", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 78?", "seeds": [ "Epileptic encephalopathy, early infantile, 78" ], "gold_answer": "Cerebral visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01310", "question": "What is associated with Von Willebrand disease type 1?", "seeds": [ "Von Willebrand disease type 1" ], "gold_answer": "VWF", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01311", "question": "What phenotype is associated with Polymicrogyria, bilateral temporooccipital?", "seeds": [ "Polymicrogyria, bilateral temporooccipital" ], "gold_answer": "Polymicrogyria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01312", "question": "What is associated with Focal aware manual automatism seizure?", "seeds": [ "Focal aware manual automatism seizure" ], "gold_answer": "Focal aware automatism seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01313", "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 finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01314", "question": "What is associated with Aniridia?", "seeds": [ "Aniridia" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01315", "question": "What is associated with Weak cry?", "seeds": [ "Weak cry" ], "gold_answer": "Abnormality of the voice", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01316", "question": "What is associated with Reduced erythrocyte inosine triphosphatase activity?", "seeds": [ "Reduced erythrocyte inosine triphosphatase activity" ], "gold_answer": "Abnormal erythrocyte enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01317", "question": "What phenotype is associated with Mismatch repair cancer syndrome 1?", "seeds": [ "Mismatch repair cancer syndrome 1" ], "gold_answer": "Increased circulating ferritin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01318", "question": "What is associated with Neurodevelopmental delay?", "seeds": [ "Neurodevelopmental delay" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01319", "question": "What phenotype is associated with Congenital disorder of glycosylation, type Icc?", "seeds": [ "Congenital disorder of glycosylation, type Icc" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01320", "question": "What is associated with Vertical supranuclear gaze palsy?", "seeds": [ "Vertical supranuclear gaze palsy" ], "gold_answer": "Supranuclear gaze palsy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01321", "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": "Increased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01322", "question": "What is associated with Crumpled humerus?", "seeds": [ "Crumpled humerus" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01323", "question": "What is associated with Thick pachygyria?", "seeds": [ "Thick pachygyria" ], "gold_answer": "Abnormal cortical gyration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01324", "question": "What is associated with Double outlet left ventricle?", "seeds": [ "Double outlet left ventricle" ], "gold_answer": "Dermatological manifestations of systemic disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01325", "question": "What is associated with Abnormality of acid-base homeostasis?", "seeds": [ "Abnormality of acid-base homeostasis" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01326", "question": "What is associated with Brown pigmentation of the conjunctiva?", "seeds": [ "Brown pigmentation of the conjunctiva" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01327", "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_test_01328", "question": "What is associated with Neonatal bilateral symmetric epileptic spasm?", "seeds": [ "Neonatal bilateral symmetric epileptic spasm" ], "gold_answer": "Neonatal electro-clinical seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01329", "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_test_01330", "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 vaccination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01331", "question": "What is associated with Pulmonary situs inversus?", "seeds": [ "Pulmonary situs inversus" ], "gold_answer": "Abnormal pulmonary situs morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01332", "question": "What is associated with Reduced left ventricular ejection fraction?", "seeds": [ "Reduced left ventricular ejection fraction" ], "gold_answer": "Left ventricular systolic dysfunction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01333", "question": "What is associated with Abnormality of the coagulation cascade?", "seeds": [ "Abnormality of the coagulation cascade" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01334", "question": "What is associated with Disorganization of the anterior cerebellar vermis?", "seeds": [ "Disorganization of the anterior cerebellar vermis" ], "gold_answer": "Abnormal cerebellar vermis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01335", "question": "What is associated with Protruding coccyx?", "seeds": [ "Protruding coccyx" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01336", "question": "What is associated with Spastic paraplegia 90A, autosomal dominant?", "seeds": [ "Spastic paraplegia 90A, autosomal dominant" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01337", "question": "What is associated with Atypical behavior?", "seeds": [ "Atypical behavior" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01338", "question": "What phenotype is associated with Glioma susceptibility 3?", "seeds": [ "Glioma susceptibility 3" ], "gold_answer": "Astrocytoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01339", "question": "What is associated with Ventricular arrhythmia?", "seeds": [ "Ventricular arrhythmia" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01340", "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": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01341", "question": "What is associated with Increased glutamine family amino acid level in urine?", "seeds": [ "Increased glutamine family amino acid level in urine" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01342", "question": "What is associated with Thyroid hormonogenesis, genetic defect in, 3?", "seeds": [ "Thyroid hormonogenesis, genetic defect in, 3" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01343", "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_test_01344", "question": "What is associated with Basal ganglia necrosis?", "seeds": [ "Basal ganglia necrosis" ], "gold_answer": "Abnormal basal ganglia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01345", "question": "What is associated with Mandibulofacial dysostosis with ptosis, autosomal dominant?", "seeds": [ "Mandibulofacial dysostosis with ptosis, autosomal dominant" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01346", "question": "What is associated with Otopalatodigital syndrome, type I?", "seeds": [ "Otopalatodigital syndrome, type I" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01347", "question": "What is associated with Small bowel diverticula?", "seeds": [ "Small bowel diverticula" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01348", "question": "What is associated with Tearfulness?", "seeds": [ "Tearfulness" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01349", "question": "What is associated with Buphthalmos?", "seeds": [ "Buphthalmos" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01350", "question": "What is associated with Dilatation of an abdominal artery?", "seeds": [ "Dilatation of an abdominal artery" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01351", "question": "What phenotype is associated with Adult syndrome?", "seeds": [ "Adult syndrome" ], "gold_answer": "Delayed eruption of teeth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01352", "question": "What phenotype is associated with Reese retinal dysplasia?", "seeds": [ "Reese retinal dysplasia" ], "gold_answer": "Remnants of the hyaloid vascular system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01353", "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_test_01354", "question": "What is associated with Joubert syndrome 38?", "seeds": [ "Joubert syndrome 38" ], "gold_answer": "Abnormal frontal bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01355", "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_test_01356", "question": "What is associated with Double inlet left ventricle?", "seeds": [ "Double inlet left ventricle" ], "gold_answer": "Abnormal connection of the cardiac segments", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01357", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 46?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 46" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01358", "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": "Abnormality of the epiphyses of the distal phalanx of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01359", "question": "What is associated with Pharyngalgia?", "seeds": [ "Pharyngalgia" ], "gold_answer": "Abnormality of the upper respiratory tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01360", "question": "What is associated with Cardiomyopathy, dilated, 1H?", "seeds": [ "Cardiomyopathy, dilated, 1H" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01361", "question": "What is associated with Osteolysis of patellae?", "seeds": [ "Osteolysis of patellae" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01362", "question": "What is associated with Cementum overgrowth?", "seeds": [ "Cementum overgrowth" ], "gold_answer": "Abnormal odontoid tissue morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01363", "question": "What is associated with Disinhibition?", "seeds": [ "Disinhibition" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01364", "question": "What is associated with Vitreomacular adhesion?", "seeds": [ "Vitreomacular adhesion" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01365", "question": "What is associated with Filippi syndrome?", "seeds": [ "Filippi syndrome" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01366", "question": "What is associated with Ehlers-Danlos syndrome, spondylodysplastic type, 1?", "seeds": [ "Ehlers-Danlos syndrome, spondylodysplastic type, 1" ], "gold_answer": "Submucous cleft palate", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01367", "question": "What is associated with Abnormal alpha granule distribution?", "seeds": [ "Abnormal alpha granule distribution" ], "gold_answer": "Abnormal platelet granules", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01368", "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_test_01369", "question": "What is associated with Myasthenic syndrome, congenital, 2A, slow-channel?", "seeds": [ "Myasthenic syndrome, congenital, 2A, slow-channel" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01370", "question": "What is associated with Adams-Oliver syndrome 1?", "seeds": [ "Adams-Oliver syndrome 1" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01371", "question": "What is associated with Verrucous cell carcinoma of the tongue?", "seeds": [ "Verrucous cell carcinoma of the tongue" ], "gold_answer": "Squamous cell carcinoma of the tongue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01372", "question": "What is associated with STXBP1-related encephalopathy?", "seeds": [ "STXBP1-related encephalopathy" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01373", "question": "What is associated with Shwachman-Diamond syndrome 2?", "seeds": [ "Shwachman-Diamond syndrome 2" ], "gold_answer": "Abnormality of the knee", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01374", "question": "What is associated with Pharyngitis?", "seeds": [ "Pharyngitis" ], "gold_answer": "Abnormality of the pharynx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01375", "question": "What is associated with Familial median cleft of the upper and lower lips?", "seeds": [ "Familial median cleft of the upper and lower lips" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01376", "question": "What is associated with Impaired annexin V binding to platelet phosphatidylserine?", "seeds": [ "Impaired annexin V binding to platelet phosphatidylserine" ], "gold_answer": "Abnormal platelet function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01377", "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_test_01378", "question": "What is associated with Darier-White disease?", "seeds": [ "Darier-White disease" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01379", "question": "What is associated with Proximal spinal muscular atrophy?", "seeds": [ "Proximal spinal muscular atrophy" ], "gold_answer": "Pneumonia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01380", "question": "What is associated with Rapidly involuting congenital hemangioma?", "seeds": [ "Rapidly involuting congenital hemangioma" ], "gold_answer": "Arteriovenous malformation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01381", "question": "What is associated with Peripheral thrombosis?", "seeds": [ "Peripheral thrombosis" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01382", "question": "What is associated with Homozygous hemoglobin O Arab disease?", "seeds": [ "Homozygous hemoglobin O Arab disease" ], "gold_answer": "HBB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01383", "question": "What is associated with Short thumb?", "seeds": [ "Short thumb" ], "gold_answer": "Aplasia/Hypoplasia of the thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01384", "question": "What is associated with Macular degeneration, age-related, 2?", "seeds": [ "Macular degeneration, age-related, 2" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01385", "question": "What is associated with Epidermolysis bullosa simplex 2C, localized?", "seeds": [ "Epidermolysis bullosa simplex 2C, localized" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01386", "question": "What is associated with Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type)?", "seeds": [ "Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type)" ], "gold_answer": "Appendicular spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01387", "question": "What is associated with Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures?", "seeds": [ "Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01388", "question": "What is associated with Fibular deviation of the 2nd toe?", "seeds": [ "Fibular 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_test_01389", "question": "What is associated with Enchondroma?", "seeds": [ "Enchondroma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01390", "question": "What phenotype is associated with Hemochromatosis, type 2A?", "seeds": [ "Hemochromatosis, type 2A" ], "gold_answer": "Hyperpigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01391", "question": "What is associated with Absent epiphyses of the 4th finger?", "seeds": [ "Absent epiphyses of the 4th finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01392", "question": "What is associated with Abnormal LDL cholesterol concentration?", "seeds": [ "Abnormal LDL cholesterol concentration" ], "gold_answer": "Abnormal circulating cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01393", "question": "What is associated with Upper motor neuron dysfunction?", "seeds": [ "Upper motor neuron dysfunction" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01394", "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": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01395", "question": "What is associated with Seizures-intellectual disability due to hydroxylysinuria syndrome?", "seeds": [ "Seizures-intellectual disability due to hydroxylysinuria syndrome" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01396", "question": "What is associated with Cleft palate-lateral synechia syndrome?", "seeds": [ "Cleft palate-lateral synechia syndrome" ], "gold_answer": "Craniofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01397", "question": "What is associated with Hypoplasia of the vestibule of the inner ear?", "seeds": [ "Hypoplasia of the vestibule of the inner ear" ], "gold_answer": "Abnormal morphology of the vestibule of the inner ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01398", "question": "What is associated with Myopia 23, autosomal recessive?", "seeds": [ "Myopia 23, autosomal recessive" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01399", "question": "What is associated with Cone-shaped epiphysis?", "seeds": [ "Cone-shaped epiphysis" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01400", "question": "What is associated with Brachydactyly, type A6?", "seeds": [ "Brachydactyly, type A6" ], "gold_answer": "Abnormal carpal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01401", "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_test_01402", "question": "What is associated with Familial drusen?", "seeds": [ "Familial drusen" ], "gold_answer": "Abnormal posterior segment imaging", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01403", "question": "What is associated with Increased globoside Gb3 level?", "seeds": [ "Increased globoside Gb3 level" ], "gold_answer": "Abnormal tissue metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01404", "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_test_01405", "question": "What is associated with Elevated circulating surfactant protein concentration?", "seeds": [ "Elevated circulating surfactant protein concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01406", "question": "What is associated with Tubulointerstitial fungal infiltration?", "seeds": [ "Tubulointerstitial fungal infiltration" ], "gold_answer": "Tubulointerstitial microganismal infiltration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01407", "question": "What is associated with Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type?", "seeds": [ "Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type" ], "gold_answer": "Abnormal upper lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01408", "question": "What phenotype is associated with Arts syndrome?", "seeds": [ "Arts syndrome" ], "gold_answer": "Drooling", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01409", "question": "What is associated with Rectal prolapse?", "seeds": [ "Rectal prolapse" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01410", "question": "What is associated with Blepharophimosis, epicanthus inversus, and ptosis?", "seeds": [ "Blepharophimosis, epicanthus inversus, and ptosis" ], "gold_answer": "Abnormal nasal bridge morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01411", "question": "What is associated with Hypertension and brachydactyly syndrome?", "seeds": [ "Hypertension and brachydactyly syndrome" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01412", "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": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01413", "question": "What is associated with Autosomal recessive spastic paraplegia type 54?", "seeds": [ "Autosomal recessive spastic paraplegia type 54" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01414", "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_test_01415", "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_test_01416", "question": "What phenotype is associated with Autoinflammation with infantile enterocolitis?", "seeds": [ "Autoinflammation with infantile enterocolitis" ], "gold_answer": "Decreased circulating complement C4 concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01417", "question": "What is associated with Hereditary leiomyomatosis and renal cell cancer?", "seeds": [ "Hereditary leiomyomatosis and renal cell cancer" ], "gold_answer": "Leiomyosarcoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01418", "question": "What phenotype is associated with Chromosome 19q13.11 deletion syndrome, distal?", "seeds": [ "Chromosome 19q13.11 deletion syndrome, distal" ], "gold_answer": "Cyclopia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01419", "question": "What is associated with 8q22.1 microdeletion syndrome?", "seeds": [ "8q22.1 microdeletion syndrome" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01420", "question": "What is associated with Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp?", "seeds": [ "Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp" ], "gold_answer": "Tremor by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01421", "question": "What is associated with Spastic ataxia with congenital miosis?", "seeds": [ "Spastic ataxia with congenital miosis" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01422", "question": "What is associated with Cervical hypoplasia?", "seeds": [ "Cervical hypoplasia" ], "gold_answer": "Abnormality of the uterus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01423", "question": "What phenotype is associated with Insulin autoimmune syndrome?", "seeds": [ "Insulin autoimmune syndrome" ], "gold_answer": "Arthralgia/arthritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01424", "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_test_01425", "question": "What phenotype is associated with Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia?", "seeds": [ "Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia" ], "gold_answer": "Brachydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01426", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 47, and lissencephaly?", "seeds": [ "Ciliary dyskinesia, primary, 47, and lissencephaly" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01427", "question": "What phenotype is associated with X-linked Alport syndrome-diffuse leiomyomatosis?", "seeds": [ "X-linked Alport syndrome-diffuse leiomyomatosis" ], "gold_answer": "Dyspepsia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01428", "question": "What is associated with Subepithelial glomerular basement membrane electron dense deposits?", "seeds": [ "Subepithelial glomerular basement membrane electron dense deposits" ], "gold_answer": "Abnormal glomerular basement membrane morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01429", "question": "What is associated with Dilated superficial abdominal veins?", "seeds": [ "Dilated superficial abdominal veins" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01430", "question": "What is associated with Ameliorated by immunosuppresion?", "seeds": [ "Ameliorated by immunosuppresion" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01431", "question": "What is associated with Gabriele-de Vries syndrome?", "seeds": [ "Gabriele-de Vries syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01432", "question": "What is associated with Depressed nasal ridge?", "seeds": [ "Depressed nasal ridge" ], "gold_answer": "Abnormal nasal dorsum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01433", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 15?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 15" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01434", "question": "What is associated with Abnormal coronary artery course?", "seeds": [ "Abnormal coronary artery course" ], "gold_answer": "Abnormal coronary artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01435", "question": "What is associated with Ovarian serous cystadenoma?", "seeds": [ "Ovarian serous cystadenoma" ], "gold_answer": "Ovarian cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01436", "question": "What is associated with Lymphatic malformation 2?", "seeds": [ "Lymphatic malformation 2" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01437", "question": "What phenotype is associated with Craniosynostosis, Adelaide type?", "seeds": [ "Craniosynostosis, Adelaide type" ], "gold_answer": "Cone-shaped epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01438", "question": "What is associated with Severe infection?", "seeds": [ "Severe infection" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01439", "question": "What is associated with Renal tubular karyomegaly?", "seeds": [ "Renal tubular karyomegaly" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01440", "question": "What phenotype is associated with Immunodeficiency 18?", "seeds": [ "Immunodeficiency 18" ], "gold_answer": "Recurrent gastroenteritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01441", "question": "What is associated with Episodic hemiplegia?", "seeds": [ "Episodic hemiplegia" ], "gold_answer": "Weakness due to upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01442", "question": "What is associated with Epidermal nevus syndrome?", "seeds": [ "Epidermal nevus syndrome" ], "gold_answer": "Abnormal superficial reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01443", "question": "What is associated with Cortical diaphyseal thickening of the upper limbs?", "seeds": [ "Cortical diaphyseal thickening of the upper limbs" ], "gold_answer": "Abnormal diaphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01444", "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_test_01445", "question": "What is associated with Primary unilateral adrenal hyperplasia?", "seeds": [ "Primary unilateral adrenal hyperplasia" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01446", "question": "What phenotype is associated with Distal renal tubular acidosis 3, with or without sensorineural hearing loss?", "seeds": [ "Distal renal tubular acidosis 3, with or without sensorineural hearing loss" ], "gold_answer": "Bilateral sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01447", "question": "What is associated with Sclerosis of the proximal phalanx of the 5th toe?", "seeds": [ "Sclerosis of the proximal phalanx of the 5th toe" ], "gold_answer": "Sclerosis of proximal phalanx of toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01448", "question": "What is associated with Leber congenital amaurosis 12?", "seeds": [ "Leber congenital amaurosis 12" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01449", "question": "What is associated with Lymphatic malformation 14?", "seeds": [ "Lymphatic malformation 14" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01450", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 15?", "seeds": [ "Developmental and epileptic encephalopathy 15" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01451", "question": "What is associated with Pseudoepiphyses of the 4th toe?", "seeds": [ "Pseudoepiphyses of the 4th toe" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01452", "question": "What is associated with Elevated urinary N,N-dimethylglycine level?", "seeds": [ "Elevated urinary N,N-dimethylglycine level" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01453", "question": "What is associated with Autosomal dominant striatal neurodegeneration?", "seeds": [ "Autosomal dominant striatal neurodegeneration" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01454", "question": "What phenotype is associated with Cervical rib?", "seeds": [ "Cervical rib" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01455", "question": "What is associated with Satyr ear?", "seeds": [ "Satyr ear" ], "gold_answer": "Abnormal ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01456", "question": "What is associated with Small epiphysis of the 1st metatarsal?", "seeds": [ "Small 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_test_01457", "question": "What is associated with Pyknoachondrogenesis?", "seeds": [ "Pyknoachondrogenesis" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the thorax", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01458", "question": "What phenotype is associated with Athrombia, essential?", "seeds": [ "Athrombia, essential" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01459", "question": "What is associated with Progressive bifocal chorioretinal atrophy?", "seeds": [ "Progressive bifocal chorioretinal atrophy" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01460", "question": "What is associated with Hip dysplasia?", "seeds": [ "Hip dysplasia" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01461", "question": "What is associated with Alopecia-contractures-dwarfism-intellectual disability syndrome?", "seeds": [ "Alopecia-contractures-dwarfism-intellectual disability syndrome" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01462", "question": "What is associated with Projectile vomiting?", "seeds": [ "Projectile vomiting" ], "gold_answer": "Vomiting", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01463", "question": "What is associated with Decreased circulating biotinidase concentration?", "seeds": [ "Decreased circulating biotinidase concentration" ], "gold_answer": "Abnormal circulating biotinidase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01464", "question": "What is associated with Intrahepatic bile duct dilatation?", "seeds": [ "Intrahepatic bile duct dilatation" ], "gold_answer": "Abnormal biliary tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01465", "question": "What is associated with Inherited congenital spastic tetraplegia?", "seeds": [ "Inherited congenital spastic tetraplegia" ], "gold_answer": "ADD3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_test_01466", "question": "What is associated with Arginine vasopressin deficiency?", "seeds": [ "Arginine vasopressin deficiency" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01467", "question": "What is associated with 15q13.3 microdeletion syndrome?", "seeds": [ "15q13.3 microdeletion syndrome" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01468", "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_test_01469", "question": "What is associated with Facial paresis, hereditary congenital, 1?", "seeds": [ "Facial paresis, hereditary congenital, 1" ], "gold_answer": "Weakness of facial musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01470", "question": "What is associated with Constrictive pericarditis?", "seeds": [ "Constrictive pericarditis" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01471", "question": "What is associated with Decreased CSF leucine concentration?", "seeds": [ "Decreased CSF leucine concentration" ], "gold_answer": "Abnormal CSF leucine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01472", "question": "What is associated with Abnormal cervical spine morphology?", "seeds": [ "Abnormal cervical spine morphology" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01473", "question": "What phenotype is associated with Mitochondrial complex IV deficiency, nuclear type 10?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 10" ], "gold_answer": "Renal insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01474", "question": "What phenotype 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": "Inability to walk", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01475", "question": "What is associated with Parachute mitral valve?", "seeds": [ "Parachute mitral valve" ], "gold_answer": "Abnormal mitral valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01476", "question": "What phenotype is associated with Febrile seizures, familial, 8?", "seeds": [ "Febrile seizures, familial, 8" ], "gold_answer": "Bilateral tonic-clonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01477", "question": "What is associated with Undetectable light-adapted electroretinogram?", "seeds": [ "Undetectable light-adapted electroretinogram" ], "gold_answer": "Abnormal electroretinogram", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01478", "question": "What phenotype is associated with Dentici-Novelli neurodevelopmental syndrome?", "seeds": [ "Dentici-Novelli neurodevelopmental syndrome" ], "gold_answer": "Thin corpus callosum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01479", "question": "What phenotype is associated with Pigmented nodular adrenocortical disease, primary, 1?", "seeds": [ "Pigmented nodular adrenocortical disease, primary, 1" ], "gold_answer": "Psychosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01480", "question": "What is associated with Jerky head movements?", "seeds": [ "Jerky head movements" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01481", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2Y?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2Y" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01482", "question": "What phenotype is associated with Neuroendocrine tumor of stomach?", "seeds": [ "Neuroendocrine tumor of stomach" ], "gold_answer": "Increased urinary cortisol level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01483", "question": "What is associated with Anti-SARS-CoV-2 coronavirus antibody positivity?", "seeds": [ "Anti-SARS-CoV-2 coronavirus antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01484", "question": "What is associated with Abnormal QRS voltage?", "seeds": [ "Abnormal QRS voltage" ], "gold_answer": "Abnormal QRS complex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01485", "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_test_01486", "question": "What is associated with Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion?", "seeds": [ "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01487", "question": "What is associated with Conjunctival hamartoma?", "seeds": [ "Conjunctival hamartoma" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01488", "question": "What is associated with Elevated circulating thymine concentration?", "seeds": [ "Elevated circulating thymine concentration" ], "gold_answer": "Abnormal circulating nucleobase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01489", "question": "What is associated with Short nasal bridge?", "seeds": [ "Short nasal bridge" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01490", "question": "What is associated with Autosomal dominant spastic paraplegia type 9B?", "seeds": [ "Autosomal dominant spastic paraplegia type 9B" ], "gold_answer": "Cognitive impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01491", "question": "What is associated with Macular degeneration?", "seeds": [ "Macular degeneration" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01492", "question": "What is associated with Ventricular septal hypertrophy?", "seeds": [ "Ventricular septal hypertrophy" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01493", "question": "What is associated with Abnormal renal physiology?", "seeds": [ "Abnormal renal physiology" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01494", "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_test_01495", "question": "What is associated with Costochondral joint sclerosis?", "seeds": [ "Costochondral joint sclerosis" ], "gold_answer": "Abnormal rib morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01496", "question": "What is associated with T cell chronic lymphocytic lymphoma/leukemia?", "seeds": [ "T cell chronic lymphocytic lymphoma/leukemia" ], "gold_answer": "Leukemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01497", "question": "What is associated with Ectopic parathyroid?", "seeds": [ "Ectopic parathyroid" ], "gold_answer": "Parathyroid dysgenesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01498", "question": "What is associated with Supernumerary tracheal bronchus?", "seeds": [ "Supernumerary tracheal bronchus" ], "gold_answer": "Abnormal tracheobronchial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01499", "question": "What is associated with Congenital hydrocephalus?", "seeds": [ "Congenital hydrocephalus" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01500", "question": "What is associated with Dermatosparaxis Ehlers-Danlos syndrome?", "seeds": [ "Dermatosparaxis Ehlers-Danlos syndrome" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01501", "question": "What is associated with Surfactant metabolism dysfunction, pulmonary, 4?", "seeds": [ "Surfactant metabolism dysfunction, pulmonary, 4" ], "gold_answer": "Abnormal DLCO", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01502", "question": "What is associated with Immunodeficiency 15?", "seeds": [ "Immunodeficiency 15" ], "gold_answer": "Abnormal monocyte count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01503", "question": "What phenotype is associated with Secondary syringomyelia?", "seeds": [ "Secondary syringomyelia" ], "gold_answer": "Abnormality of central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01504", "question": "What is associated with Exercise intolerance, riboflavin-responsive?", "seeds": [ "Exercise intolerance, riboflavin-responsive" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01505", "question": "What is associated with Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency?", "seeds": [ "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" ], "gold_answer": "STAT1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01506", "question": "What is associated with Central centrifugal cicatricial alopecia?", "seeds": [ "Central centrifugal cicatricial alopecia" ], "gold_answer": "Alopecia of scalp", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01507", "question": "What is associated with Variegate porphyria?", "seeds": [ "Variegate porphyria" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01508", "question": "What is associated with Osteosclerosis of the base of the skull?", "seeds": [ "Osteosclerosis of the base of the skull" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01509", "question": "What is associated with Retinitis pigmentosa 88?", "seeds": [ "Retinitis pigmentosa 88" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01510", "question": "What is associated with Decreased body fat percentage?", "seeds": [ "Decreased body fat percentage" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01511", "question": "What is associated with Premature ovarian failure 5?", "seeds": [ "Premature ovarian failure 5" ], "gold_answer": "Abnormal antral follicle count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01512", "question": "What is associated with Delayed puberty?", "seeds": [ "Delayed puberty" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01513", "question": "What phenotype is associated with Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development?", "seeds": [ "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01514", "question": "What is associated with Third trimester onset?", "seeds": [ "Third trimester onset" ], "gold_answer": "Antenatal onset", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01515", "question": "What is associated with Retinopathy, pericentral pigmentary, autosomal recessive?", "seeds": [ "Retinopathy, pericentral pigmentary, autosomal recessive" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01516", "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": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01517", "question": "What is associated with Abnormal alcohol consumption?", "seeds": [ "Abnormal alcohol consumption" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01518", "question": "What is associated with Impacted teeth, multiple?", "seeds": [ "Impacted teeth, multiple" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01519", "question": "What is associated with Phosphoenolpyruvate carboxykinase 2, mitochondrial?", "seeds": [ "Phosphoenolpyruvate carboxykinase 2, mitochondrial" ], "gold_answer": "Abnormal hepatobiliary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01520", "question": "What is associated with Patchy sclerosis of proximal phalanx of finger?", "seeds": [ "Patchy sclerosis of proximal phalanx of finger" ], "gold_answer": "Sclerosis of finger phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01521", "question": "What is associated with Breast microcalcification?", "seeds": [ "Breast microcalcification" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01522", "question": "What is associated with Abnormal esophagus physiology?", "seeds": [ "Abnormal esophagus physiology" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01523", "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_test_01524", "question": "What is associated with External tibial torsion?", "seeds": [ "External tibial torsion" ], "gold_answer": "Tibial torsion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01525", "question": "What is associated with Fractured distal phalanx of pedal digit 3?", "seeds": [ "Fractured distal phalanx of pedal digit 3" ], "gold_answer": "Fractured distal phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01526", "question": "What is associated with Decreased sialylated N-glycan level?", "seeds": [ "Decreased sialylated N-glycan level" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01527", "question": "What phenotype is associated with Noduli cutanei, multiple, with urinary tract abnormalities?", "seeds": [ "Noduli cutanei, multiple, with urinary tract abnormalities" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01528", "question": "What is associated with Abnormal platelet function?", "seeds": [ "Abnormal platelet function" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01529", "question": "What is associated with Cortical radial artery intima/media coagulative necrosis?", "seeds": [ "Cortical radial artery intima/media coagulative necrosis" ], "gold_answer": "Abnormal cortical radial artery intima/media morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01530", "question": "What is associated with Dense metaphyseal bands?", "seeds": [ "Dense metaphyseal bands" ], "gold_answer": "Abnormal metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01531", "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_test_01532", "question": "What phenotype is associated with Cantú syndrome?", "seeds": [ "Cantú syndrome" ], "gold_answer": "Finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01533", "question": "What is associated with Bloodstream microfilaria?", "seeds": [ "Bloodstream microfilaria" ], "gold_answer": "Blood parasite", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01534", "question": "What is associated with Bullet-shaped distal phalanx of the 3rd toe?", "seeds": [ "Bullet-shaped distal phalanx of the 3rd toe" ], "gold_answer": "Bullet-shaped toe phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01535", "question": "What is associated with Everted lower lip vermilion?", "seeds": [ "Everted lower lip vermilion" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01536", "question": "What is associated with Scalp edema?", "seeds": [ "Scalp edema" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01537", "question": "What is associated with Abnormal total T cell count?", "seeds": [ "Abnormal total T cell count" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01538", "question": "What is associated with Epiphyseal stippling of toe phalanges?", "seeds": [ "Epiphyseal stippling of toe phalanges" ], "gold_answer": "Abnormal epiphyseal ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01539", "question": "What is associated with Hypertriglyceridemia?", "seeds": [ "Hypertriglyceridemia" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01540", "question": "What is associated with Corticotropin-releasing hormone receptor defect?", "seeds": [ "Corticotropin-releasing hormone receptor defect" ], "gold_answer": "Central adrenal insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01541", "question": "What is associated with Microphthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies?", "seeds": [ "Microphthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01542", "question": "What is associated with Dental radicular dysplasia?", "seeds": [ "Dental radicular dysplasia" ], "gold_answer": "Agenesis of molar", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01543", "question": "What is associated with Progressive calcification of costochondral cartilage?", "seeds": [ "Progressive calcification of costochondral cartilage" ], "gold_answer": "Abnormality of the costochondral junction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01544", "question": "What is associated with Anterior chamber flare grade 1+?", "seeds": [ "Anterior chamber flare grade 1+" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01545", "question": "What phenotype is associated with Grouped pigmentation of the macula?", "seeds": [ "Grouped pigmentation of the macula" ], "gold_answer": "Metamorphopsia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01546", "question": "What is associated with GATA2 deficiency spectrum?", "seeds": [ "GATA2 deficiency spectrum" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01547", "question": "What is associated with Wieacker-Wolff syndrome?", "seeds": [ "Wieacker-Wolff syndrome" ], "gold_answer": "Thoracic hypoplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01548", "question": "What is associated with Abnormality of the epiphysis of the 1st metatarsal?", "seeds": [ "Abnormality of the epiphysis of the 1st metatarsal" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01549", "question": "What is associated with Myelocytic leukemia-like syndrome, familial, chronic?", "seeds": [ "Myelocytic leukemia-like syndrome, familial, chronic" ], "gold_answer": "Chronic leukemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01550", "question": "What is associated with Addictive video game use?", "seeds": [ "Addictive video game use" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01551", "question": "What is associated with Substantially elevated circulating ethanol concentration?", "seeds": [ "Substantially elevated circulating ethanol concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01552", "question": "What is associated with Olecranon fracture?", "seeds": [ "Olecranon fracture" ], "gold_answer": "Elbow fracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01553", "question": "What is associated with Cleft palate, psychomotor retardation, and distinctive facial features?", "seeds": [ "Cleft palate, psychomotor retardation, and distinctive facial features" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01554", "question": "What is associated with Foam cells with lamellar inclusion bodies?", "seeds": [ "Foam cells with lamellar inclusion bodies" ], "gold_answer": "Foam cells", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01555", "question": "What is associated with Ridged fingernail?", "seeds": [ "Ridged fingernail" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01556", "question": "What is associated with Chronic granulomatous disease, X-linked?", "seeds": [ "Chronic granulomatous disease, X-linked" ], "gold_answer": "Recurrent lower respiratory tract infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01557", "question": "What is associated with Developmental and epileptic encephalopathy 106?", "seeds": [ "Developmental and epileptic encephalopathy 106" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01558", "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_test_01559", "question": "What is associated with Cervical ectropion?", "seeds": [ "Cervical ectropion" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01560", "question": "What is associated with Hepatic infarction?", "seeds": [ "Hepatic infarction" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01561", "question": "What is associated with Fetal chylothorax?", "seeds": [ "Fetal chylothorax" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01562", "question": "What is associated with Increased cotinine level?", "seeds": [ "Increased cotinine level" ], "gold_answer": "Presence of xenobiotic", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01563", "question": "What is associated with Dorsal column degeneration?", "seeds": [ "Dorsal column degeneration" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01564", "question": "What is associated with Spontaneous hematomas?", "seeds": [ "Spontaneous hematomas" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01565", "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_test_01566", "question": "What is associated with Posterior synechiae of the anterior chamber?", "seeds": [ "Posterior synechiae of the anterior chamber" ], "gold_answer": "Abnormal anterior chamber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01567", "question": "What is associated with Retrograde memory impairment?", "seeds": [ "Retrograde memory impairment" ], "gold_answer": "Long term memory impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01568", "question": "What is associated with Distal?", "seeds": [ "Distal" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01569", "question": "What is associated with Spermatogenic failure 95?", "seeds": [ "Spermatogenic failure 95" ], "gold_answer": "Abnormal male reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01570", "question": "What is associated with Tibial pseudarthrosis?", "seeds": [ "Tibial pseudarthrosis" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01571", "question": "What is associated with Mandibulofacial dysostosis?", "seeds": [ "Mandibulofacial dysostosis" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01572", "question": "What is associated with Capsular cataract?", "seeds": [ "Capsular cataract" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01573", "question": "What is associated with Absent epiphysis of the distal phalanx of the 4th toe?", "seeds": [ "Absent 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_test_01574", "question": "What is associated with Diminished integration of verbal and non-verbal communicative behavior?", "seeds": [ "Diminished integration of verbal and non-verbal communicative behavior" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01575", "question": "What is associated with Abnormal cardiac MRI?", "seeds": [ "Abnormal cardiac MRI" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01576", "question": "What is associated with Long palpebral fissure?", "seeds": [ "Long palpebral fissure" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01577", "question": "What is associated with Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome?", "seeds": [ "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01578", "question": "What phenotype is associated with Nanophthalmos 4?", "seeds": [ "Nanophthalmos 4" ], "gold_answer": "Microphthalmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01579", "question": "What is associated with Reduced circulating aldolase concentration?", "seeds": [ "Reduced circulating aldolase concentration" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01580", "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_test_01581", "question": "What is associated with Abnormal pulse pressure?", "seeds": [ "Abnormal pulse pressure" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01582", "question": "What is associated with Lingual thyroid?", "seeds": [ "Lingual thyroid" ], "gold_answer": "Ectopic thyroid", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01583", "question": "What is associated with X-linked intellectual disability, Najm type?", "seeds": [ "X-linked intellectual disability, Najm type" ], "gold_answer": "Cerebral atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01584", "question": "What is associated with Peroneal tendon subluxation?", "seeds": [ "Peroneal tendon subluxation" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01585", "question": "What is associated with Fetal tachycardia?", "seeds": [ "Fetal tachycardia" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01586", "question": "What is associated with Abnormal lymph-node tissue architecture?", "seeds": [ "Abnormal lymph-node tissue architecture" ], "gold_answer": "Abnormal lymph-node biospecimen", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01587", "question": "What is associated with Joubert syndrome 30?", "seeds": [ "Joubert syndrome 30" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01588", "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_test_01589", "question": "What is associated with Membranous subvalvular aortic stenosis?", "seeds": [ "Membranous subvalvular aortic stenosis" ], "gold_answer": "Abnormal left ventricle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01590", "question": "What is associated with Precipitous labor?", "seeds": [ "Precipitous labor" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01591", "question": "What is associated with Aortic annulus calcification?", "seeds": [ "Aortic annulus calcification" ], "gold_answer": "Aortic valve calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01592", "question": "What is associated with Anti-desmocollin antibody positivity?", "seeds": [ "Anti-desmocollin antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01593", "question": "What 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": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01594", "question": "What is associated with Congenital ichthyosis-microcephalus-tetraplegia syndrome?", "seeds": [ "Congenital ichthyosis-microcephalus-tetraplegia syndrome" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01595", "question": "What phenotype is associated with Ramos-Arroyo syndrome?", "seeds": [ "Ramos-Arroyo syndrome" ], "gold_answer": "Broad face", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01596", "question": "What is associated with Communicating hydrocephalus?", "seeds": [ "Communicating hydrocephalus" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01597", "question": "What phenotype is associated with AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome?", "seeds": [ "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome" ], "gold_answer": "Mild myopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01598", "question": "What is associated with Pineal cyst?", "seeds": [ "Pineal cyst" ], "gold_answer": "Intracranial cystic lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01599", "question": "What is associated with Ulnar deviation of the wrist?", "seeds": [ "Ulnar deviation of the wrist" ], "gold_answer": "Abnormality of the wrist", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01600", "question": "What phenotype is associated with Acromicric dysplasia?", "seeds": [ "Acromicric dysplasia" ], "gold_answer": "Decreased nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01601", "question": "What phenotype is associated with Orthostatic hypotension 2?", "seeds": [ "Orthostatic hypotension 2" ], "gold_answer": "Hypoglycemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01602", "question": "What phenotype is associated with Optic atrophy 3, autosomal dominant?", "seeds": [ "Optic atrophy 3, autosomal dominant" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01603", "question": "What is associated with Shashi-Pena syndrome?", "seeds": [ "Shashi-Pena syndrome" ], "gold_answer": "Abnormal blood glucose concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01604", "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_test_01605", "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_test_01606", "question": "What is associated with Autosomal dominant spastic paraplegia type 3?", "seeds": [ "Autosomal dominant spastic paraplegia type 3" ], "gold_answer": "Limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01607", "question": "What is associated with Renal arteriole neutrophil endoarterial hypercellularity?", "seeds": [ "Renal arteriole neutrophil endoarterial hypercellularity" ], "gold_answer": "Abnormal renal arteriole endothelium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01608", "question": "What is associated with Cardiomyopathy, dilated, 1K?", "seeds": [ "Cardiomyopathy, dilated, 1K" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01609", "question": "What is associated with Abnormal circulating mannose-binding protein concentration?", "seeds": [ "Abnormal circulating mannose-binding protein concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01610", "question": "What is associated with Secondary non-traumatic avascular necrosis?", "seeds": [ "Secondary non-traumatic avascular necrosis" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01611", "question": "What is associated with Cardiac shunt?", "seeds": [ "Cardiac shunt" ], "gold_answer": "Abnormality of blood circulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01612", "question": "What is associated with Myasthenic syndrome, congenital, 19?", "seeds": [ "Myasthenic syndrome, congenital, 19" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01613", "question": "What 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": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01614", "question": "What is associated with Isolated humero-radial synostosis?", "seeds": [ "Isolated humero-radial synostosis" ], "gold_answer": "Abnormal elbow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01615", "question": "What phenotype is associated with Blepharochalasis and double lip?", "seeds": [ "Blepharochalasis and double lip" ], "gold_answer": "Goiter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01616", "question": "What is associated with Eclabion?", "seeds": [ "Eclabion" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01617", "question": "What is associated with Progressive cone dystrophy?", "seeds": [ "Progressive cone dystrophy" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01618", "question": "What is associated with Distal 2nd toe symphalangism?", "seeds": [ "Distal 2nd toe symphalangism" ], "gold_answer": "Second toe symphalangism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01619", "question": "What is associated with Brachydactyly type A7?", "seeds": [ "Brachydactyly type A7" ], "gold_answer": "Abnormality of the middle phalanx of the 5th toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01620", "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_test_01621", "question": "What is associated with Progressive loss of facial adipose tissue?", "seeds": [ "Progressive loss of facial adipose tissue" ], "gold_answer": "Abnormality of facial adipose tissue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01622", "question": "What is associated with Sertoli cell-only syndrome?", "seeds": [ "Sertoli cell-only syndrome" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01623", "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_test_01624", "question": "What is associated with Broad proximal phalanx of the 3rd finger?", "seeds": [ "Broad proximal phalanx of the 3rd finger" ], "gold_answer": "Broad phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01625", "question": "What is associated with Flexion contracture of finger?", "seeds": [ "Flexion contracture of finger" ], "gold_answer": "Abnormality of upper limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01626", "question": "What is associated with CSF varicella zoster antibody positivity?", "seeds": [ "CSF varicella zoster antibody positivity" ], "gold_answer": "CSF pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01627", "question": "What phenotype is associated with Trichodental dysplasia?", "seeds": [ "Trichodental dysplasia" ], "gold_answer": "Hypocalcification of dental enamel", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01628", "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_test_01629", "question": "What phenotype is associated with Brachydactyly, type A1, D?", "seeds": [ "Brachydactyly, type A1, D" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01630", "question": "What is associated with Conjunctival hamartoma?", "seeds": [ "Conjunctival hamartoma" ], "gold_answer": "Hamartoma of the orbital region", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01631", "question": "What is associated with Interlobular vein intima/media venulitis?", "seeds": [ "Interlobular vein intima/media venulitis" ], "gold_answer": "Abnormal interlobular vein morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01632", "question": "What is associated with Offspring of consanguineous relationship?", "seeds": [ "Offspring of consanguineous relationship" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01633", "question": "What is associated with Secondary hyperparathyroidism?", "seeds": [ "Secondary hyperparathyroidism" ], "gold_answer": "Abnormality of the parathyroid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01634", "question": "What is associated with Abnormal lateral cricoarytenoid muscle morphology?", "seeds": [ "Abnormal lateral cricoarytenoid muscle morphology" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01635", "question": "What is associated with Focal lupus nephritis?", "seeds": [ "Focal lupus nephritis" ], "gold_answer": "Glomerulonephritis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01636", "question": "What is associated with Lymphadenopathy?", "seeds": [ "Lymphadenopathy" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01637", "question": "What phenotype is associated with Thyroid hormone plasma membrane transport defect?", "seeds": [ "Thyroid hormone plasma membrane transport defect" ], "gold_answer": "Euthyroid hyperthyroxinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01638", "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_test_01639", "question": "What is associated with Pancreatic hamartoma?", "seeds": [ "Pancreatic hamartoma" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01640", "question": "What is associated with Increased total natural killer cell count?", "seeds": [ "Increased total natural killer cell count" ], "gold_answer": "Abnormal total natural killer cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01641", "question": "What is associated with Interstitial cardiac fibrosis?", "seeds": [ "Interstitial cardiac fibrosis" ], "gold_answer": "Myocardial fibrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01642", "question": "What is associated with Maturity-onset diabetes of the young, type II?", "seeds": [ "Maturity-onset diabetes of the young, type II" ], "gold_answer": "Diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01643", "question": "What is associated with Frailty?", "seeds": [ "Frailty" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01644", "question": "What is associated with Mitochondrial complex V (ATP synthase) deficiency nuclear type 5?", "seeds": [ "Mitochondrial complex V (ATP synthase) deficiency nuclear type 5" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01645", "question": "What is associated with Recurrent long bone fractures?", "seeds": [ "Recurrent long bone fractures" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01646", "question": "What phenotype is associated with Cd8 deficiency, familial?", "seeds": [ "Cd8 deficiency, familial" ], "gold_answer": "Absence of CD8-positive T cells", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01647", "question": "What is associated with Delayed ability to sit?", "seeds": [ "Delayed ability to sit" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01648", "question": "What is associated with Porokeratosis 9, multiple types?", "seeds": [ "Porokeratosis 9, multiple types" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01649", "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_test_01650", "question": "What phenotype is associated with Microduplication Xp11.22p11.23 syndrome?", "seeds": [ "Microduplication Xp11.22p11.23 syndrome" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01651", "question": "What phenotype is associated with Peroxisome biogenesis disorder 3B?", "seeds": [ "Peroxisome biogenesis disorder 3B" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01652", "question": "What phenotype is associated with Denys-Drash syndrome?", "seeds": [ "Denys-Drash syndrome" ], "gold_answer": "Diffuse mesangial sclerosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01653", "question": "What is associated with Neutrophil actin dysfunction?", "seeds": [ "Neutrophil actin dysfunction" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01654", "question": "What is associated with Carotid cavernous fistula?", "seeds": [ "Carotid cavernous fistula" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01655", "question": "What is associated with Broad middle phalanx of the 2nd toe?", "seeds": [ "Broad 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_test_01656", "question": "What is associated with Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia?", "seeds": [ "Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01657", "question": "What is associated with Chondrocalcinosis?", "seeds": [ "Chondrocalcinosis" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01658", "question": "What phenotype is associated with Robin sequence with cleft mandible and limb anomalies?", "seeds": [ "Robin sequence with cleft mandible and limb anomalies" ], "gold_answer": "Short thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01659", "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_test_01660", "question": "What phenotype is associated with Metachondromatosis?", "seeds": [ "Metachondromatosis" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01661", "question": "What is associated with Holocarboxylase synthetase deficiency?", "seeds": [ "Holocarboxylase synthetase deficiency" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01662", "question": "What is associated with 1-2 finger cutaneous syndactyly?", "seeds": [ "1-2 finger cutaneous syndactyly" ], "gold_answer": "Cutaneous finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01663", "question": "What is associated with Abnormal adipose tissue morphology?", "seeds": [ "Abnormal adipose tissue morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01664", "question": "What is associated with Wide epiphyseal plates of the upper limbs?", "seeds": [ "Wide epiphyseal plates of the upper limbs" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01665", "question": "What is associated with Triangular shaped proximal phalanx of the hallux?", "seeds": [ "Triangular shaped proximal phalanx of the hallux" ], "gold_answer": "Triangular shaped phalanges of the hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01666", "question": "What is associated with Progressive visual loss?", "seeds": [ "Progressive visual loss" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01667", "question": "What is associated with Palmar hyperlinearity?", "seeds": [ "Palmar hyperlinearity" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01668", "question": "What is associated with Reduced tissue 3-methylglutaconyl-CoA hydratase activity?", "seeds": [ "Reduced tissue 3-methylglutaconyl-CoA hydratase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01669", "question": "What is associated with Onion bulb formation?", "seeds": [ "Onion bulb formation" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01670", "question": "What is associated with Exposure to birds?", "seeds": [ "Exposure to birds" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01671", "question": "What phenotype is associated with Proximal fifth finger symphalangism?", "seeds": [ "Proximal fifth finger symphalangism" ], "gold_answer": "Elbow dislocation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01672", "question": "What phenotype is associated with Gemignani syndrome?", "seeds": [ "Gemignani syndrome" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01673", "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_test_01674", "question": "What is associated with Hypothyroidism, congenital, nongoitrous, 4?", "seeds": [ "Hypothyroidism, congenital, nongoitrous, 4" ], "gold_answer": "Abnormal anterior fontanelle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01675", "question": "What phenotype is associated with Lipodystrophy, familial partial, type 6?", "seeds": [ "Lipodystrophy, familial partial, type 6" ], "gold_answer": "Muscular dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01676", "question": "What is associated with Abnormal renal corticomedullary differentiation?", "seeds": [ "Abnormal renal corticomedullary differentiation" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01677", "question": "What is associated with Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion?", "seeds": [ "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" ], "gold_answer": "Short attention span", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01678", "question": "What is associated with Thymoma?", "seeds": [ "Thymoma" ], "gold_answer": "Neoplasm of the thymus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01679", "question": "What is associated with Abnormal subthalamic nucleus morphology?", "seeds": [ "Abnormal subthalamic nucleus morphology" ], "gold_answer": "Abnormal diencephalon morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01680", "question": "What is associated with Increased susceptibility to spontaneous sister chromatid exchange?", "seeds": [ "Increased susceptibility to spontaneous sister chromatid exchange" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01681", "question": "What phenotype is associated with Progressive supranuclear palsy-corticobasal syndrome?", "seeds": [ "Progressive supranuclear palsy-corticobasal syndrome" ], "gold_answer": "Abnormal pyramidal sign", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01682", "question": "What is associated with Axillary pterygium?", "seeds": [ "Axillary pterygium" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01683", "question": "What is associated with Dark choroid?", "seeds": [ "Dark choroid" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01684", "question": "What is associated with Aplasia/hypoplasia of the proximal phalanx of the 4th toe?", "seeds": [ "Aplasia/hypoplasia of the proximal phalanx of the 4th toe" ], "gold_answer": "Abnormality of the phalanges of the 4th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01685", "question": "What is associated with Bracket epiphyses of the 2nd toe?", "seeds": [ "Bracket epiphyses of the 2nd toe" ], "gold_answer": "Bracket epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01686", "question": "What is associated with Underdeveloped nasal alae?", "seeds": [ "Underdeveloped nasal alae" ], "gold_answer": "Abnormal morphology of the nasal alae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01687", "question": "What is associated with Generalized hypertrichosis?", "seeds": [ "Generalized hypertrichosis" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01688", "question": "What is associated with Bowel irritability?", "seeds": [ "Bowel irritability" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01689", "question": "What is associated with Unilateral renal atrophy?", "seeds": [ "Unilateral renal atrophy" ], "gold_answer": "Renal atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01690", "question": "What is associated with Bullet-shaped distal phalanx of the 2nd finger?", "seeds": [ "Bullet-shaped distal phalanx of the 2nd finger" ], "gold_answer": "Abnormality of the phalanges of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01691", "question": "What is associated with Aplasia of lacrimal and salivary glands?", "seeds": [ "Aplasia of lacrimal and salivary glands" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01692", "question": "What is associated with Aplasia cutis congenita of midline scalp vertex?", "seeds": [ "Aplasia cutis congenita of midline scalp vertex" ], "gold_answer": "Aplasia cutis congenita over the scalp vertex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01693", "question": "What is associated with Abnormal chorion morphology?", "seeds": [ "Abnormal chorion morphology" ], "gold_answer": "Abnormal placenta morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01694", "question": "What is associated with Focal emotional seizure?", "seeds": [ "Focal emotional seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01695", "question": "What is associated with Seizure?", "seeds": [ "Seizure" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01696", "question": "What is associated with Periventricular leukomalacia?", "seeds": [ "Periventricular leukomalacia" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01697", "question": "What is associated with Prolonged bleeding following circumcision?", "seeds": [ "Prolonged bleeding following circumcision" ], "gold_answer": "Prolonged bleeding following procedure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01698", "question": "What phenotype is associated with Nipah virus disease?", "seeds": [ "Nipah virus disease" ], "gold_answer": "Headache", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01699", "question": "What is associated with Vestibular areflexia?", "seeds": [ "Vestibular areflexia" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01700", "question": "What is associated with Renal medullary interstitial inflammation?", "seeds": [ "Renal medullary interstitial inflammation" ], "gold_answer": "Abnormal renal interstitial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01701", "question": "What phenotype is associated with Pentosuria?", "seeds": [ "Pentosuria" ], "gold_answer": "Elevated urine L-xylulose level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01702", "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_test_01703", "question": "What is associated with Right ventricular aneurysm?", "seeds": [ "Right ventricular aneurysm" ], "gold_answer": "Abnormal right ventricle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01704", "question": "What phenotype is associated with Mitochondrial DNA-associated Leigh syndrome?", "seeds": [ "Mitochondrial DNA-associated Leigh syndrome" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01705", "question": "What is associated with Posterior rib fusion?", "seeds": [ "Posterior rib fusion" ], "gold_answer": "Rib fusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01706", "question": "What is associated with Asymmetric peripheral demyelination?", "seeds": [ "Asymmetric peripheral demyelination" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01707", "question": "What is associated with Lactose intolerance?", "seeds": [ "Lactose intolerance" ], "gold_answer": "Malabsorption", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01708", "question": "What is associated with Abnormal esterified to free carnitine ratio?", "seeds": [ "Abnormal esterified to free carnitine ratio" ], "gold_answer": "Abnormal circulating fatty-acid anion concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01709", "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_test_01710", "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_test_01711", "question": "What is associated with Autosomal dominant Charcot-Marie-Tooth disease type 2Y?", "seeds": [ "Autosomal dominant Charcot-Marie-Tooth disease type 2Y" ], "gold_answer": "Proximal lower limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01712", "question": "What is associated with Decreased erythrocyte UDP glucose-4-epimerase concentration?", "seeds": [ "Decreased erythrocyte UDP glucose-4-epimerase concentration" ], "gold_answer": "Abnormal erythrocyte enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01713", "question": "What is associated with Alpha-EEG?", "seeds": [ "Alpha-EEG" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01714", "question": "What is associated with Monosomy 9p syndrome?", "seeds": [ "Monosomy 9p syndrome" ], "gold_answer": "Hyperactivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01715", "question": "What is associated with Urinary tract neoplasm?", "seeds": [ "Urinary tract neoplasm" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01716", "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_test_01717", "question": "What is associated with Idiopathic hypercalciuria?", "seeds": [ "Idiopathic hypercalciuria" ], "gold_answer": "Abnormal blood inorganic cation concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01718", "question": "What is associated with CNS hypomyelination?", "seeds": [ "CNS hypomyelination" ], "gold_answer": "Abnormal CNS myelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01719", "question": "What is associated with Reduced fetal long bone echogenicity?", "seeds": [ "Reduced fetal long bone echogenicity" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01720", "question": "What is associated with Proboscis lateralis?", "seeds": [ "Proboscis lateralis" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01721", "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_test_01722", "question": "What is associated with Penile hypospadias?", "seeds": [ "Penile hypospadias" ], "gold_answer": "Hypospadias", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01723", "question": "What is associated with Glyoxalase II deficiency?", "seeds": [ "Glyoxalase II deficiency" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01724", "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": "Increased variability in muscle fiber diameter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01725", "question": "What is associated with Paroxysmal nocturnal hemoglobinuria?", "seeds": [ "Paroxysmal nocturnal hemoglobinuria" ], "gold_answer": "Abnormality of venous physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01726", "question": "What phenotype is associated with Leber optic atrophy, susceptibility to?", "seeds": [ "Leber optic atrophy, susceptibility to" ], "gold_answer": "Leber optic atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01727", "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": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01728", "question": "What is associated with Choroidal melanoma?", "seeds": [ "Choroidal melanoma" ], "gold_answer": "Uveal melanoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01729", "question": "What is associated with Neoplasm of the central nervous system?", "seeds": [ "Neoplasm of the central nervous system" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01730", "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": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01731", "question": "What is associated with Sensory hyposensitivity unexplained by sensory deficit?", "seeds": [ "Sensory hyposensitivity unexplained by sensory deficit" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01732", "question": "What is associated with Equinus calcaneus?", "seeds": [ "Equinus calcaneus" ], "gold_answer": "Abnormality of the tarsal bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01733", "question": "What is associated with Preauricular pit?", "seeds": [ "Preauricular pit" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01734", "question": "What is associated with Cousin syndrome?", "seeds": [ "Cousin syndrome" ], "gold_answer": "Joint stiffness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01735", "question": "What phenotype is associated with Distal deletion 15q syndrome?", "seeds": [ "Distal deletion 15q syndrome" ], "gold_answer": "Pulmonary hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01736", "question": "What is associated with Absent otoacoustic emissions?", "seeds": [ "Absent otoacoustic emissions" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01737", "question": "What is associated with Anti-HLA antibody positivity?", "seeds": [ "Anti-HLA antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01738", "question": "What is associated with Bazex syndrome?", "seeds": [ "Bazex syndrome" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01739", "question": "What phenotype is associated with Corpus callosum, partial agenesis of, X-linked?", "seeds": [ "Corpus callosum, partial agenesis of, X-linked" ], "gold_answer": "Aganglionic megacolon", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01740", "question": "What is associated with Worster-Drought syndrome?", "seeds": [ "Worster-Drought syndrome" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01741", "question": "What is associated with Increased circulating cathepsin D level?", "seeds": [ "Increased circulating cathepsin D level" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01742", "question": "What is associated with Autoimmune neutropenia?", "seeds": [ "Autoimmune neutropenia" ], "gold_answer": "Decreased total neutrophil count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01743", "question": "What phenotype is associated with Polydactyly-myopia syndrome?", "seeds": [ "Polydactyly-myopia syndrome" ], "gold_answer": "Femoral hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01744", "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_test_01745", "question": "What is associated with Epilepsy, familial adult myoclonic, 2?", "seeds": [ "Epilepsy, familial adult myoclonic, 2" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01746", "question": "What is associated with Neoplasm?", "seeds": [ "Neoplasm" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01747", "question": "What is associated with Spastic paraplegia 72B, autosomal recessive?", "seeds": [ "Spastic paraplegia 72B, autosomal recessive" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01748", "question": "What is associated with Apnea, obstructive sleep?", "seeds": [ "Apnea, obstructive sleep" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01749", "question": "What is associated with Reduced eye contact?", "seeds": [ "Reduced eye contact" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01750", "question": "What is associated with Williams-Beuren region duplication syndrome?", "seeds": [ "Williams-Beuren region duplication syndrome" ], "gold_answer": "Renal agenesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01751", "question": "What is associated with Urethrocele?", "seeds": [ "Urethrocele" ], "gold_answer": "Vaginal hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01752", "question": "What phenotype is associated with Non-syndromic agammaglobulinemia?", "seeds": [ "Non-syndromic agammaglobulinemia" ], "gold_answer": "Skin rash", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01753", "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_test_01754", "question": "What is associated with Congenital pyloric atresia?", "seeds": [ "Congenital pyloric atresia" ], "gold_answer": "Abnormal stomach morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01755", "question": "What phenotype is associated with Epidermolysis bullosa simplex, Weber-Cockayne type?", "seeds": [ "Epidermolysis bullosa simplex, Weber-Cockayne type" ], "gold_answer": "Hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01756", "question": "What is associated with Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome?", "seeds": [ "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome" ], "gold_answer": "Abnormality of facial soft tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01757", "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_test_01758", "question": "What is associated with Fanconi anemia, complementation group R?", "seeds": [ "Fanconi anemia, complementation group R" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01759", "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_test_01760", "question": "What is associated with Focal impaired awareness cognitive seizure?", "seeds": [ "Focal impaired awareness cognitive seizure" ], "gold_answer": "Focal impaired awareness seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01761", "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_test_01762", "question": "What is associated with Anti-glycyl tRNA-synthetase antibody positivity?", "seeds": [ "Anti-glycyl tRNA-synthetase antibody positivity" ], "gold_answer": "Anti-aminoacyl-tRNA synthetase antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01763", "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_test_01764", "question": "What is associated with Elevated urine dodecanedioic acid level?", "seeds": [ "Elevated urine dodecanedioic acid level" ], "gold_answer": "Abnormal urine pH", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01765", "question": "What is associated with Increased lymph-node eosinophils?", "seeds": [ "Increased lymph-node eosinophils" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01766", "question": "What is associated with Scleroderma, familial progressive?", "seeds": [ "Scleroderma, familial progressive" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01767", "question": "What is associated with Noncommunicating hydrocephalus?", "seeds": [ "Noncommunicating hydrocephalus" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01768", "question": "What phenotype is associated with Distal triplication 15q syndrome?", "seeds": [ "Distal triplication 15q syndrome" ], "gold_answer": "Hydronephrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01769", "question": "What is associated with Stage 2 chronic kidney disease?", "seeds": [ "Stage 2 chronic kidney disease" ], "gold_answer": "Renal insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01770", "question": "What is associated with Hirsutism?", "seeds": [ "Hirsutism" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01771", "question": "What is associated with Abnormal circulating acylcarnitine concentration?", "seeds": [ "Abnormal circulating acylcarnitine concentration" ], "gold_answer": "Abnormal circulating monocarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01772", "question": "What phenotype is associated with Lipoyltransferase 1 deficiency?", "seeds": [ "Lipoyltransferase 1 deficiency" ], "gold_answer": "Hyperglutaminuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01773", "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_test_01774", "question": "What is associated with Lacrimal duct aplasia?", "seeds": [ "Lacrimal duct aplasia" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01775", "question": "What is associated with Macular atrophy?", "seeds": [ "Macular atrophy" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01776", "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_test_01777", "question": "What is associated with Reduced social smiling?", "seeds": [ "Reduced social smiling" ], "gold_answer": "Reduced social responsiveness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01778", "question": "What is associated with Superficial episcleral hyperemia?", "seeds": [ "Superficial episcleral hyperemia" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01779", "question": "What phenotype is associated with Paget disease of bone 6?", "seeds": [ "Paget disease of bone 6" ], "gold_answer": "Elevated circulating alkaline phosphatase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01780", "question": "What is associated with Shoulder dimple?", "seeds": [ "Shoulder dimple" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01781", "question": "What is associated with Increased CD4+ T cell proportion?", "seeds": [ "Increased CD4+ T cell proportion" ], "gold_answer": "Abnormal CD4+ T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01782", "question": "What is associated with Transmantle columnar heterotopia?", "seeds": [ "Transmantle columnar heterotopia" ], "gold_answer": "Gray matter heterotopia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01783", "question": "What is associated with Methioninuria?", "seeds": [ "Methioninuria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01784", "question": "What is associated with Clasp-knife sign?", "seeds": [ "Clasp-knife sign" ], "gold_answer": "Appendicular spasticity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01785", "question": "What phenotype is associated with Ocular cicatricial pemphigoid?", "seeds": [ "Ocular cicatricial pemphigoid" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01786", "question": "What is associated with Tracheobronchmegaly?", "seeds": [ "Tracheobronchmegaly" ], "gold_answer": "Abnormal tracheal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01787", "question": "What is associated with Diamond-Blackfan anemia 21?", "seeds": [ "Diamond-Blackfan anemia 21" ], "gold_answer": "Abnormality of the calf", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01788", "question": "What is associated with Postinfectious vasculitis?", "seeds": [ "Postinfectious vasculitis" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01789", "question": "What is associated with Reduced brain lactate level by MRS?", "seeds": [ "Reduced brain lactate level by MRS" ], "gold_answer": "Abnormal brain lactate level by MRS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01790", "question": "What is associated with Stiff hip?", "seeds": [ "Stiff hip" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01791", "question": "What is associated with Aplasia/Hypoplasia of the phalanges of the thumb?", "seeds": [ "Aplasia/Hypoplasia of the phalanges of the thumb" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01792", "question": "What is associated with Dystrophic epidermolysis bullosa pruriginosa?", "seeds": [ "Dystrophic epidermolysis bullosa pruriginosa" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01793", "question": "What phenotype is associated with Odontodysplasia?", "seeds": [ "Odontodysplasia" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01794", "question": "What is associated with CHIME syndrome?", "seeds": [ "CHIME syndrome" ], "gold_answer": "Congenital malformation of the right heart", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01795", "question": "What is associated with Self hugging?", "seeds": [ "Self hugging" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01796", "question": "What is associated with Elevated circulating guanidinoacetic acid concentration?", "seeds": [ "Elevated circulating guanidinoacetic acid concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01797", "question": "What is associated with Duodenal polyposis?", "seeds": [ "Duodenal polyposis" ], "gold_answer": "Intestinal polyposis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01798", "question": "What is associated with Postencephalitic parkinsonism?", "seeds": [ "Postencephalitic parkinsonism" ], "gold_answer": "Vertical supranuclear gaze palsy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01799", "question": "What is associated with Parietal cortical atrophy?", "seeds": [ "Parietal cortical atrophy" ], "gold_answer": "Cerebral atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01800", "question": "What is associated with Pacman dysplasia?", "seeds": [ "Pacman dysplasia" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01801", "question": "What is associated with Increased fucosylation of N-linked protein glycosylation?", "seeds": [ "Increased fucosylation of N-linked protein glycosylation" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01802", "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_test_01803", "question": "What is associated with Posterior subluxation of radial head?", "seeds": [ "Posterior subluxation of radial head" ], "gold_answer": "Joint subluxation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01804", "question": "What is associated with Anterior synechiae of the anterior chamber?", "seeds": [ "Anterior synechiae of the anterior chamber" ], "gold_answer": "Abnormal anterior chamber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01805", "question": "What is associated with Typhoid?", "seeds": [ "Typhoid" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01806", "question": "What is associated with Pituitary hormone deficiency, combined, 1?", "seeds": [ "Pituitary hormone deficiency, combined, 1" ], "gold_answer": "Abnormality of the voice", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01807", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 33?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 33" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01808", "question": "What is associated with Curved middle phalanx of the 4th finger?", "seeds": [ "Curved middle phalanx of the 4th finger" ], "gold_answer": "Curved fingers", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01809", "question": "What is associated with Hoyeraal-Hreidarsson syndrome?", "seeds": [ "Hoyeraal-Hreidarsson syndrome" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01810", "question": "What is associated with Global mesangial sclerosis?", "seeds": [ "Global mesangial sclerosis" ], "gold_answer": "Abnormal glomerular mesangial matrix morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01811", "question": "What is associated with Absent vertebral body mineralization?", "seeds": [ "Absent vertebral body mineralization" ], "gold_answer": "Abnormally ossified vertebrae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01812", "question": "What is associated with Muscular dystrophy, limb-girdle, autosomal recessive 29?", "seeds": [ "Muscular dystrophy, limb-girdle, autosomal recessive 29" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01813", "question": "What is associated with Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome?", "seeds": [ "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome" ], "gold_answer": "MIR204", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_test_01814", "question": "What phenotype is associated with Retinal capillary malformation?", "seeds": [ "Retinal capillary malformation" ], "gold_answer": "Cerebellar edema", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01815", "question": "What is associated with Hepatic sinusoidal dilatation?", "seeds": [ "Hepatic sinusoidal dilatation" ], "gold_answer": "Abnormal liver parenchyma morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01816", "question": "What is associated with Spinal muscular atrophy, distal, X-linked 3?", "seeds": [ "Spinal muscular atrophy, distal, X-linked 3" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01817", "question": "What phenotype is associated with X-linked dominant chondrodysplasia punctata?", "seeds": [ "X-linked dominant chondrodysplasia punctata" ], "gold_answer": "Proteinuria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01818", "question": "What is associated with Abnormal blood monovalent inorganic cation concentration?", "seeds": [ "Abnormal blood monovalent inorganic cation concentration" ], "gold_answer": "Abnormal blood ion concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01819", "question": "What is associated with CHOPS syndrome?", "seeds": [ "CHOPS syndrome" ], "gold_answer": "Facial hypertrichosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01820", "question": "What is associated with Steroid dehydrogenase deficiency-dental anomalies syndrome?", "seeds": [ "Steroid dehydrogenase deficiency-dental anomalies syndrome" ], "gold_answer": "Abnormal dental enamel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01821", "question": "What is associated with Finger dactylitis?", "seeds": [ "Finger dactylitis" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01822", "question": "What phenotype is associated with Polycystic liver disease 3 with or without kidney cysts?", "seeds": [ "Polycystic liver disease 3 with or without kidney cysts" ], "gold_answer": "Renal cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01823", "question": "What is associated with Abnormality of the middle phalanx of the 5th finger?", "seeds": [ "Abnormality of the middle phalanx of the 5th finger" ], "gold_answer": "Abnormal 5th finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01824", "question": "What phenotype is associated with Bethlem myopathy 2?", "seeds": [ "Bethlem myopathy 2" ], "gold_answer": "Elevated circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01825", "question": "What is associated with Closed neural tube defect?", "seeds": [ "Closed neural tube defect" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01826", "question": "What is associated with Shoulder dystocia?", "seeds": [ "Shoulder dystocia" ], "gold_answer": "Abnormal delivery", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01827", "question": "What is associated with Pulmonary chondroma?", "seeds": [ "Pulmonary chondroma" ], "gold_answer": "Neoplasm of the respiratory system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01828", "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_test_01829", "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_test_01830", "question": "What is associated with Hypercalciuria?", "seeds": [ "Hypercalciuria" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01831", "question": "What is associated with Abnormal right atrium morphology?", "seeds": [ "Abnormal right atrium morphology" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01832", "question": "What is associated with Tremor?", "seeds": [ "Tremor" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01833", "question": "What is associated with Rectal arteriovenous malformation?", "seeds": [ "Rectal arteriovenous malformation" ], "gold_answer": "Gastrointestinal arteriovenous malformation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01834", "question": "What is associated with Increased circulating interleukin 17A concentration?", "seeds": [ "Increased circulating interleukin 17A concentration" ], "gold_answer": "Abnormal circulating interleukin 17A concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01835", "question": "What phenotype is associated with Mitochondrial complex I deficiency, nuclear type 21?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 21" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01836", "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_test_01837", "question": "What is associated with Absent hair?", "seeds": [ "Absent hair" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01838", "question": "What phenotype is associated with Autosomal dominant polycystic kidney disease?", "seeds": [ "Autosomal dominant polycystic kidney disease" ], "gold_answer": "Spinal cord compression", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01839", "question": "What is associated with Spastic paraplegia 18, autosomal recessive?", "seeds": [ "Spastic paraplegia 18, autosomal recessive" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01840", "question": "What is associated with Amyotrophy involving the shoulder musculature?", "seeds": [ "Amyotrophy involving the shoulder musculature" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01841", "question": "What is associated with Thoracopelvic dysostosis?", "seeds": [ "Thoracopelvic dysostosis" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01842", "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_test_01843", "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_test_01844", "question": "What is associated with Bare lymphocyte syndrome, type I?", "seeds": [ "Bare lymphocyte syndrome, type I" ], "gold_answer": "Otitis media", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01845", "question": "What is associated with Autosomal dominant spastic paraplegia type 8?", "seeds": [ "Autosomal dominant spastic paraplegia type 8" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01846", "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_test_01847", "question": "What is associated with Abnormal circulating neopterin concentration?", "seeds": [ "Abnormal circulating neopterin concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01848", "question": "What is associated with Naegeli-Franceschetti-Jadassohn syndrome?", "seeds": [ "Naegeli-Franceschetti-Jadassohn syndrome" ], "gold_answer": "KRT14", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01849", "question": "What is associated with Triangular shaped phalanges of the 3rd toe?", "seeds": [ "Triangular shaped phalanges of the 3rd toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01850", "question": "What is associated with Y-shaped metacarpals?", "seeds": [ "Y-shaped metacarpals" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01851", "question": "What is associated with Abnormal emotional state?", "seeds": [ "Abnormal emotional state" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01852", "question": "What is associated with Focal impaired awareness sensory seizure with visual features?", "seeds": [ "Focal impaired awareness sensory seizure with visual features" ], "gold_answer": "Focal impaired awareness non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01853", "question": "What is associated with Abnormal Langerhans cell morphology?", "seeds": [ "Abnormal Langerhans cell morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01854", "question": "What is associated with Angioedema, hereditary, 7?", "seeds": [ "Angioedema, hereditary, 7" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01855", "question": "What is associated with Aplasia/Hypoplasia of the ribs?", "seeds": [ "Aplasia/Hypoplasia of the ribs" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01856", "question": "What phenotype is associated with Hypothyroidism, congenital, nongoitrous, 4?", "seeds": [ "Hypothyroidism, congenital, nongoitrous, 4" ], "gold_answer": "Umbilical hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01857", "question": "What is associated with Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay?", "seeds": [ "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01858", "question": "What is associated with Hypnagogic sleep paralysis?", "seeds": [ "Hypnagogic sleep paralysis" ], "gold_answer": "Abnormal rapid eye movement sleep", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01859", "question": "What is associated with Psychosis?", "seeds": [ "Psychosis" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01860", "question": "What is associated with Abnormal total iron binding capacity?", "seeds": [ "Abnormal total iron binding capacity" ], "gold_answer": "Abnormal blood transition element cation concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01861", "question": "What is associated with Adermatoglyphia?", "seeds": [ "Adermatoglyphia" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01862", "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_test_01863", "question": "What is associated with Stippling of the epiphysis of the 1st metatarsal?", "seeds": [ "Stippling of the epiphysis of the 1st metatarsal" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01864", "question": "What is associated with Oral melanoacanthoma?", "seeds": [ "Oral melanoacanthoma" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01865", "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_test_01866", "question": "What is associated with Cerebral palsy, ataxic, autosomal recessive?", "seeds": [ "Cerebral palsy, ataxic, autosomal recessive" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01867", "question": "What is associated with Trichothiodystrophy 9, nonphotosensitive?", "seeds": [ "Trichothiodystrophy 9, nonphotosensitive" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01868", "question": "What is associated with Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia?", "seeds": [ "Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia" ], "gold_answer": "Internal hemorrhage", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01869", "question": "What is associated with Bronchial stenosis?", "seeds": [ "Bronchial stenosis" ], "gold_answer": "Abnormal bronchus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01870", "question": "What is associated with Palatal edema?", "seeds": [ "Palatal edema" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01871", "question": "What phenotype is associated with Acrofacial dysostosis, Cincinnati type?", "seeds": [ "Acrofacial dysostosis, Cincinnati type" ], "gold_answer": "Spinal cord tumor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01872", "question": "What phenotype is associated with Deafness, autosomal recessive 33?", "seeds": [ "Deafness, autosomal recessive 33" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01873", "question": "What is associated with Musk, inability to smell?", "seeds": [ "Musk, inability to smell" ], "gold_answer": "Abnormality of the sense of smell", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01874", "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_test_01875", "question": "What is associated with Sensory axonal neuropathy?", "seeds": [ "Sensory axonal neuropathy" ], "gold_answer": "Peripheral axonal neuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01876", "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_test_01877", "question": "What is associated with Decreased circulating dihydrotestosterone concentration?", "seeds": [ "Decreased circulating dihydrotestosterone concentration" ], "gold_answer": "Decreased circulating androgen concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01878", "question": "What is associated with DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect?", "seeds": [ "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect" ], "gold_answer": "DNM1L", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_test_01879", "question": "What is associated with Cleft lip/palate?", "seeds": [ "Cleft lip/palate" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01880", "question": "What is associated with Large knee?", "seeds": [ "Large knee" ], "gold_answer": "Abnormal knee morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01881", "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": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01882", "question": "What is associated with Hallux plantarflexion weakness?", "seeds": [ "Hallux plantarflexion weakness" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01883", "question": "What phenotype is associated with Pseudoaminopterin syndrome?", "seeds": [ "Pseudoaminopterin syndrome" ], "gold_answer": "Poor suck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01884", "question": "What is associated with Enterocutaneous fistula?", "seeds": [ "Enterocutaneous fistula" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01885", "question": "What is associated with Short distal phalanx of hallux?", "seeds": [ "Short distal phalanx of hallux" ], "gold_answer": "Short phalanx of hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01886", "question": "What phenotype is associated with Prader-Willi syndrome due to translocation?", "seeds": [ "Prader-Willi syndrome due to translocation" ], "gold_answer": "Submucous cleft soft palate", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01887", "question": "What is associated with TOR1AIP1-related limb-girdle muscular dystrophy?", "seeds": [ "TOR1AIP1-related limb-girdle muscular dystrophy" ], "gold_answer": "TOR1AIP1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_test_01888", "question": "What is associated with Bipartite calcaneus?", "seeds": [ "Bipartite calcaneus" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01889", "question": "What is associated with Sclerosis of hand bone?", "seeds": [ "Sclerosis of hand bone" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01890", "question": "What is associated with Osteogenesis imperfecta type 4?", "seeds": [ "Osteogenesis imperfecta type 4" ], "gold_answer": "TMEM38B", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01891", "question": "What is associated with Orchitis?", "seeds": [ "Orchitis" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01892", "question": "What is associated with Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease?", "seeds": [ "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease" ], "gold_answer": "PRKAG2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01893", "question": "What is associated with Omovertebral bone?", "seeds": [ "Omovertebral bone" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01894", "question": "What is associated with Morbus Koehler?", "seeds": [ "Morbus Koehler" ], "gold_answer": "Juvenile aseptic necrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01895", "question": "What is associated with Immunodeficiency 63 with lymphoproliferation and autoimmunity?", "seeds": [ "Immunodeficiency 63 with lymphoproliferation and autoimmunity" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01896", "question": "What is associated with Triangular shaped proximal phalanx of the 3rd finger?", "seeds": [ "Triangular shaped proximal phalanx of the 3rd finger" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01897", "question": "What is associated with Spastic paraplegia 20, autosomal recessive?", "seeds": [ "Spastic paraplegia 20, autosomal recessive" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01898", "question": "What is associated with Abnormal chorioretinal morphology?", "seeds": [ "Abnormal chorioretinal morphology" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01899", "question": "What is associated with Coronary cameral fistula?", "seeds": [ "Coronary cameral fistula" ], "gold_answer": "Abnormal coronary artery course", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01900", "question": "What phenotype is associated with Van Maldergem syndrome 1?", "seeds": [ "Van Maldergem syndrome 1" ], "gold_answer": "Short clavicles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01901", "question": "What is associated with Diplopia?", "seeds": [ "Diplopia" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01902", "question": "What is associated with Shortening of all phalanges of the toes?", "seeds": [ "Shortening of all phalanges of the toes" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01903", "question": "What is associated with Periorbital purpura?", "seeds": [ "Periorbital purpura" ], "gold_answer": "Abnormality of the periorbital region", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01904", "question": "What is associated with Positive Finkelstein sign?", "seeds": [ "Positive Finkelstein sign" ], "gold_answer": "Abnormality of the wrist", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01905", "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_test_01906", "question": "What is associated with Periportal emperipolesis?", "seeds": [ "Periportal emperipolesis" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01907", "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_test_01908", "question": "What is associated with C2-C3 subluxation?", "seeds": [ "C2-C3 subluxation" ], "gold_answer": "Abnormality of the cervical spine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01909", "question": "What is associated with Remote trauma history?", "seeds": [ "Remote trauma history" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01910", "question": "What is associated with Interlobular vein medial atrophy?", "seeds": [ "Interlobular vein medial atrophy" ], "gold_answer": "Abnormal interlobular vein intima/media morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01911", "question": "What is associated with Sneeze?", "seeds": [ "Sneeze" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01912", "question": "What is associated with Patchy sclerosis of 3rd finger phalanx?", "seeds": [ "Patchy sclerosis of 3rd finger phalanx" ], "gold_answer": "Increased bone mineral density", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01913", "question": "What is associated with Spondylolysis?", "seeds": [ "Spondylolysis" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01914", "question": "What phenotype is associated with Isolated congenital hypoglossia/aglossia?", "seeds": [ "Isolated congenital hypoglossia/aglossia" ], "gold_answer": "Cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01915", "question": "What is associated with Shoulder pain?", "seeds": [ "Shoulder pain" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01916", "question": "What is associated with Urethral diverticulum?", "seeds": [ "Urethral diverticulum" ], "gold_answer": "Abnormality of the lower urinary tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01917", "question": "What phenotype is associated with Short chain acyl-CoA dehydrogenase deficiency?", "seeds": [ "Short chain acyl-CoA dehydrogenase deficiency" ], "gold_answer": "Myopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01918", "question": "What phenotype is associated with Corpus callosum agenesis-neuronopathy syndrome?", "seeds": [ "Corpus callosum agenesis-neuronopathy syndrome" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01919", "question": "What is associated with Agammaglobulinemia 9, autosomal recessive?", "seeds": [ "Agammaglobulinemia 9, autosomal recessive" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01920", "question": "What is associated with Ataxia, deafness, and cardiomyopathy?", "seeds": [ "Ataxia, deafness, and cardiomyopathy" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01921", "question": "What is associated with Spondylometaphyseal dysplasia, X-linked?", "seeds": [ "Spondylometaphyseal dysplasia, X-linked" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01922", "question": "What is associated with Shield chest?", "seeds": [ "Shield chest" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01923", "question": "What is associated with Anemia, congenital dyserythropoietic, type Ia?", "seeds": [ "Anemia, congenital dyserythropoietic, type Ia" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01924", "question": "What is associated with High, narrow palate?", "seeds": [ "High, narrow palate" ], "gold_answer": "Narrow palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01925", "question": "What is associated with Congenital disorder of glycosylation, type Ia?", "seeds": [ "Congenital disorder of glycosylation, type Ia" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01926", "question": "What is associated with Prenatal-onset spinal muscular atrophy with congenital bone fractures?", "seeds": [ "Prenatal-onset spinal muscular atrophy with congenital bone fractures" ], "gold_answer": "ASCC1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01927", "question": "What is associated with Triggered by sodium ingestion?", "seeds": [ "Triggered by sodium ingestion" ], "gold_answer": "Triggered by food ingestion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01928", "question": "What is associated with Pulmonary hamartoma?", "seeds": [ "Pulmonary hamartoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01929", "question": "What is associated with Absent styloid process of ulna?", "seeds": [ "Absent styloid process of ulna" ], "gold_answer": "Abnormal morphology of ulna", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01930", "question": "What is associated with Thrombophilia, hereditary, due to protein S deficiency, autosomal?", "seeds": [ "Thrombophilia, hereditary, due to protein S deficiency, autosomal" ], "gold_answer": "Thrombophlebitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01931", "question": "What is associated with Skin rash?", "seeds": [ "Skin rash" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01932", "question": "What is associated with Symmetric distribution?", "seeds": [ "Symmetric distribution" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01933", "question": "What is associated with Dense posterior cortical cataract?", "seeds": [ "Dense posterior cortical cataract" ], "gold_answer": "Posterior cortical cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01934", "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": "Long penis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01935", "question": "What is associated with Alpha-gal allergy?", "seeds": [ "Alpha-gal allergy" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01936", "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_test_01937", "question": "What is associated with Absent retinal pigment epithelium?", "seeds": [ "Absent retinal pigment epithelium" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01938", "question": "What is associated with Ullrich congenital muscular dystrophy 1B?", "seeds": [ "Ullrich congenital muscular dystrophy 1B" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01939", "question": "What is associated with Elevated circulating glycolate concentration?", "seeds": [ "Elevated circulating glycolate concentration" ], "gold_answer": "Abnormal circulating monocarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01940", "question": "What phenotype is associated with Post-transplant lymphoproliferative disease?", "seeds": [ "Post-transplant lymphoproliferative disease" ], "gold_answer": "Fever", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01941", "question": "What is associated with Synostosis involving the 1st metatarsal?", "seeds": [ "Synostosis involving the 1st metatarsal" ], "gold_answer": "Abnormality of the first metatarsal bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01942", "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_test_01943", "question": "What is associated with Hypertaurinemia?", "seeds": [ "Hypertaurinemia" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01944", "question": "What is associated with Bardet-Biedl syndrome 8?", "seeds": [ "Bardet-Biedl syndrome 8" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01945", "question": "What is associated with Glomerular basement membrane spikes?", "seeds": [ "Glomerular basement membrane spikes" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01946", "question": "What phenotype is associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet?", "seeds": [ "Corneal dystrophy, punctiform and polychromatic pre-Descemet" ], "gold_answer": "Posterior corneal stroma punctiform multicolored opacities", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01947", "question": "What phenotype is associated with Immunodeficiency 16?", "seeds": [ "Immunodeficiency 16" ], "gold_answer": "Immunodeficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01948", "question": "What is associated with Body mass index quantitative trait locus 20?", "seeds": [ "Body mass index quantitative trait locus 20" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01949", "question": "What phenotype is associated with Developmental delay, hypotonia, and impaired language?", "seeds": [ "Developmental delay, hypotonia, and impaired language" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01950", "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": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01951", "question": "What phenotype is associated with Hypoparathyroidism, familial isolated 2?", "seeds": [ "Hypoparathyroidism, familial isolated 2" ], "gold_answer": "Hyperphosphatemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01952", "question": "What is associated with Albinism, oculocutaneous, type III?", "seeds": [ "Albinism, oculocutaneous, type III" ], "gold_answer": "Abnormality of hair pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01953", "question": "What is associated with Spinal muscular atrophy, type I?", "seeds": [ "Spinal muscular atrophy, type I" ], "gold_answer": "Prenatal movement abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01954", "question": "What is associated with Elevated urinary isovalerylglycine level?", "seeds": [ "Elevated urinary isovalerylglycine level" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01955", "question": "What is associated with Amyotrophy, monomelic?", "seeds": [ "Amyotrophy, monomelic" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01956", "question": "What is associated with C11ORF73-related autosomal recessive hypomyelinating leukodystrophy?", "seeds": [ "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy" ], "gold_answer": "HIKESHI", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_01957", "question": "What phenotype is associated with Atrial septal defect, ostium primum type?", "seeds": [ "Atrial septal defect, ostium primum type" ], "gold_answer": "Atrioventricular block", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01958", "question": "What is associated with Collagenosis, familial reactive perforating?", "seeds": [ "Collagenosis, familial reactive perforating" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01959", "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_test_01960", "question": "What is associated with Accelerated atherosclerosis?", "seeds": [ "Accelerated atherosclerosis" ], "gold_answer": "Atherosclerosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01961", "question": "What is associated with Enlarged epiphysis of the distal phalanx of the 5th finger?", "seeds": [ "Enlarged epiphysis 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_test_01962", "question": "What is associated with Pelvic dysplasia-arthrogryposis of lower limbs syndrome?", "seeds": [ "Pelvic dysplasia-arthrogryposis of lower limbs syndrome" ], "gold_answer": "Aplasia/Hypoplasia involving the pelvis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01963", "question": "What is associated with Excessive wrinkled skin?", "seeds": [ "Excessive wrinkled skin" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01964", "question": "What is associated with Brachymorphism-Onychodysplasia-Dysphalangism syndrome?", "seeds": [ "Brachymorphism-Onychodysplasia-Dysphalangism syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the nails", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01965", "question": "What is associated with Pemphigus foliaceus?", "seeds": [ "Pemphigus foliaceus" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01966", "question": "What is associated with Narrow philtrum?", "seeds": [ "Narrow philtrum" ], "gold_answer": "Abnormality of the philtrum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01967", "question": "What is associated with Corneal scarring?", "seeds": [ "Corneal scarring" ], "gold_answer": "Scarring", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01968", "question": "What is associated with Chromosomal breakage induced by crosslinking agents?", "seeds": [ "Chromosomal breakage induced by crosslinking agents" ], "gold_answer": "Abnormality of chromosome stability", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01969", "question": "What is associated with Elevated urinary 2-methyl-3-hydroxybutyric acid level?", "seeds": [ "Elevated urinary 2-methyl-3-hydroxybutyric acid level" ], "gold_answer": "Increased urine proteinogenic amino acid derivative level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01970", "question": "What is associated with GONADOBLASTOMA?", "seeds": [ "GONADOBLASTOMA" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01971", "question": "What is associated with Tapered sperm head?", "seeds": [ "Tapered sperm head" ], "gold_answer": "Abnormal male germ cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01972", "question": "What is associated with Prosopagnosia, hereditary?", "seeds": [ "Prosopagnosia, hereditary" ], "gold_answer": "Disturbed sensory perception", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01973", "question": "What is associated with Abnormal renal tubule morphology?", "seeds": [ "Abnormal renal tubule morphology" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01974", "question": "What is associated with Iliac arterial calcification?", "seeds": [ "Iliac arterial calcification" ], "gold_answer": "Peripheral arterial calcification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01975", "question": "What phenotype is associated with Monomelic amyotrophy?", "seeds": [ "Monomelic amyotrophy" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01976", "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_test_01977", "question": "What is associated with Positive urine cocaine test?", "seeds": [ "Positive urine cocaine test" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01978", "question": "What is associated with Alternating hypertropia?", "seeds": [ "Alternating hypertropia" ], "gold_answer": "Hyperdeviation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01979", "question": "What phenotype is associated with Hemorrhagic destruction of the brain, subependymal calcification,and cataracts?", "seeds": [ "Hemorrhagic destruction of the brain, subependymal calcification,and cataracts" ], "gold_answer": "Ventricular septal defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01980", "question": "What is associated with Increased lymph-node cellular CD20 expression?", "seeds": [ "Increased lymph-node cellular CD20 expression" ], "gold_answer": "Abnormal level of lymph-node cellular CD20 expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01981", "question": "What is associated with Phelan-McDermid syndrome due to SHANK3 mutation?", "seeds": [ "Phelan-McDermid syndrome due to SHANK3 mutation" ], "gold_answer": "SHANK3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_test_01982", "question": "What is associated with Anterior chamber inflammatory cells?", "seeds": [ "Anterior chamber inflammatory cells" ], "gold_answer": "Abnormal anterior chamber morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01983", "question": "What is associated with Abnormal peritubular capillary morphology?", "seeds": [ "Abnormal peritubular capillary morphology" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01984", "question": "What phenotype is associated with Split-Hand/foot malformation 4?", "seeds": [ "Split-Hand/foot malformation 4" ], "gold_answer": "Split hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_01985", "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_test_01986", "question": "What is associated with Ureteral duplication?", "seeds": [ "Ureteral duplication" ], "gold_answer": "Abnormality of the ureter", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01987", "question": "What is associated with Aplasia/Hypoplasia of the ribs?", "seeds": [ "Aplasia/Hypoplasia of the ribs" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01988", "question": "What is associated with Post-vaccination yellow fever?", "seeds": [ "Post-vaccination yellow fever" ], "gold_answer": "Infection following live vaccination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01989", "question": "What is associated with Abnormality of von Willebrand factor?", "seeds": [ "Abnormality of von Willebrand factor" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01990", "question": "What is associated with Scapuloperoneal myopathy?", "seeds": [ "Scapuloperoneal myopathy" ], "gold_answer": "Abnormal calf musculature morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01991", "question": "What is associated with Dahlberg-Borer-Newcomer syndrome?", "seeds": [ "Dahlberg-Borer-Newcomer syndrome" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01992", "question": "What is associated with Intestinal dysmotility syndrome?", "seeds": [ "Intestinal dysmotility syndrome" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_01993", "question": "What is associated with Disturbed sensory perception?", "seeds": [ "Disturbed sensory perception" ], "gold_answer": "Disturbed perception with a stimulus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01994", "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_test_01995", "question": "What is associated with Slit-like opening of the exterior auditory meatus?", "seeds": [ "Slit-like opening of the exterior auditory meatus" ], "gold_answer": "Stenosis of the external auditory canal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01996", "question": "What is associated with Recurrent Staphylococcus aureus infections?", "seeds": [ "Recurrent Staphylococcus aureus infections" ], "gold_answer": "Recurrent staphylococcal infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01997", "question": "What is associated with Increased level of galactitol in urine?", "seeds": [ "Increased level of galactitol in urine" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_01998", "question": "What is associated with Respiratory infections in early life?", "seeds": [ "Respiratory infections in early life" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_01999", "question": "What phenotype is associated with Syndromic X-linked intellectual disability 7?", "seeds": [ "Syndromic X-linked intellectual disability 7" ], "gold_answer": "Visual loss", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02000", "question": "What is associated with Oral mucosal blisters?", "seeds": [ "Oral mucosal blisters" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02001", "question": "What is associated with Jung syndrome?", "seeds": [ "Jung syndrome" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02002", "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_test_02003", "question": "What phenotype is associated with Mitochondrial complex I deficiency, nuclear type 11?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 11" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02004", "question": "What is associated with Uterine cyst?", "seeds": [ "Uterine cyst" ], "gold_answer": "Abnormal uterus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02005", "question": "What phenotype is associated with Mucolipidosis type II?", "seeds": [ "Mucolipidosis type II" ], "gold_answer": "Oligohydramnios", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02006", "question": "What is associated with Ring chromosome 11 syndrome?", "seeds": [ "Ring chromosome 11 syndrome" ], "gold_answer": "Abnormal renal pelvis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02007", "question": "What is associated with Anti-GW182 antibody positivity?", "seeds": [ "Anti-GW182 antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02008", "question": "What is associated with Preauricular lymphadenopathy?", "seeds": [ "Preauricular lymphadenopathy" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02009", "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_test_02010", "question": "What is associated with Atherosclerotic lesion?", "seeds": [ "Atherosclerotic lesion" ], "gold_answer": "Arteriosclerosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02011", "question": "What is associated with Neutropenia, severe congenital 3, autosomal recessive?", "seeds": [ "Neutropenia, severe congenital 3, autosomal recessive" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02012", "question": "What is associated with Perisylvian FDG hypermetabolism?", "seeds": [ "Perisylvian FDG hypermetabolism" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02013", "question": "What is associated with 8q12 microduplication syndrome?", "seeds": [ "8q12 microduplication syndrome" ], "gold_answer": "Abnormal size of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02014", "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_test_02015", "question": "What is associated with Tricuspid valve prolapse?", "seeds": [ "Tricuspid valve prolapse" ], "gold_answer": "Abnormal heart valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02016", "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_test_02017", "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_test_02018", "question": "What is associated with Anomalous origin of the right common carotid artery from the aorta?", "seeds": [ "Anomalous origin of the right common carotid artery from the aorta" ], "gold_answer": "Abnormal carotid artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02019", "question": "What is associated with Fractured carpal bone?", "seeds": [ "Fractured carpal bone" ], "gold_answer": "Abnormal carpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02020", "question": "What 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": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02021", "question": "What is associated with Intellectual developmental disorder, X-linked syndromic 33?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic 33" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02022", "question": "What is associated with Aseptic abscess syndrome?", "seeds": [ "Aseptic abscess syndrome" ], "gold_answer": "Abnormal external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02023", "question": "What is associated with Recurrent upper and lower respiratory tract infections?", "seeds": [ "Recurrent upper and lower respiratory tract infections" ], "gold_answer": "Recurrent respiratory infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02024", "question": "What is associated with Abnormality of cervical plexus?", "seeds": [ "Abnormality of cervical plexus" ], "gold_answer": "Abnormality of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02025", "question": "What is associated with Triggered by sodium ingestion?", "seeds": [ "Triggered by sodium ingestion" ], "gold_answer": "Triggered by food ingestion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02026", "question": "What is associated with Chondroblastoma?", "seeds": [ "Chondroblastoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02027", "question": "What is associated with Endocrine-cerebro-osteodysplasia syndrome?", "seeds": [ "Endocrine-cerebro-osteodysplasia syndrome" ], "gold_answer": "CILK1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02028", "question": "What is associated with Shortening of all distal phalanges of the toes?", "seeds": [ "Shortening of all distal phalanges of the toes" ], "gold_answer": "Short distal phalanx of toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02029", "question": "What is associated with Keratoacanthoma?", "seeds": [ "Keratoacanthoma" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02030", "question": "What phenotype is associated with Otosclerosis 12?", "seeds": [ "Otosclerosis 12" ], "gold_answer": "Otosclerosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02031", "question": "What is associated with Bronchomalacia?", "seeds": [ "Bronchomalacia" ], "gold_answer": "Abnormal bronchus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02032", "question": "What is associated with HNRNPA1-related adult-onset distal myopathy?", "seeds": [ "HNRNPA1-related adult-onset distal myopathy" ], "gold_answer": "HNRNPA1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02033", "question": "What is associated with Abnormal platelet membrane protein expression?", "seeds": [ "Abnormal platelet membrane protein expression" ], "gold_answer": "Abnormality of thrombocytes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02034", "question": "What phenotype is associated with Anal canal carcinomacloacogenic carcinoma, included?", "seeds": [ "Anal canal carcinomacloacogenic carcinoma, included" ], "gold_answer": "Anal canal squamous carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02035", "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_test_02036", "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_test_02037", "question": "What is associated with Elevated circulating tetradecanoylcarnitine concentration?", "seeds": [ "Elevated circulating tetradecanoylcarnitine concentration" ], "gold_answer": "Elevated circulating long-chain acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02038", "question": "What is associated with Abnormal pituitary gland morphology?", "seeds": [ "Abnormal pituitary gland morphology" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02039", "question": "What is associated with Cataract, autosomal dominant, multiple types 1?", "seeds": [ "Cataract, autosomal dominant, multiple types 1" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02040", "question": "What is associated with Myopathy, distal, Tateyama type?", "seeds": [ "Myopathy, distal, Tateyama type" ], "gold_answer": "Abnormal muscle fiber-type distribution", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02041", "question": "What is associated with Pulmonary hypertension, primary, 7?", "seeds": [ "Pulmonary hypertension, primary, 7" ], "gold_answer": "Atrial arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02042", "question": "What is associated with Unilateral microphthalmos?", "seeds": [ "Unilateral microphthalmos" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02043", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 28?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 28" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02044", "question": "What is associated with Focal impaired awareness cognitive seizure with hallucination?", "seeds": [ "Focal impaired awareness cognitive seizure with hallucination" ], "gold_answer": "Focal impaired awareness cognitive seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02045", "question": "What is associated with Retinitis pigmentosa 46?", "seeds": [ "Retinitis pigmentosa 46" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02046", "question": "What is associated with Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination?", "seeds": [ "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02047", "question": "What is associated with Hemoglobin H disease?", "seeds": [ "Hemoglobin H disease" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02048", "question": "What phenotype is associated with Carney complex variant?", "seeds": [ "Carney complex variant" ], "gold_answer": "Trismus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02049", "question": "What is associated with Epiphyseal dysplasia-hearing loss-dysmorphism syndrome?", "seeds": [ "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02050", "question": "What is associated with Decreased urinary copper concentration?", "seeds": [ "Decreased urinary copper concentration" ], "gold_answer": "Abnormal urinary mineral level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02051", "question": "What is associated with Histiocytosis, progressive mucinous?", "seeds": [ "Histiocytosis, progressive mucinous" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02052", "question": "What is associated with Archibald's sign?", "seeds": [ "Archibald's sign" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02053", "question": "What is associated with Ring fibers?", "seeds": [ "Ring fibers" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02054", "question": "What is associated with Decreased mitochondrial complex III activity in liver tissue?", "seeds": [ "Decreased mitochondrial complex III activity in liver tissue" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02055", "question": "What is associated with Anomalous splenoportal venous system?", "seeds": [ "Anomalous splenoportal venous system" ], "gold_answer": "Abnormality of the hepatic vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02056", "question": "What is associated with Cenani-Lenz syndactyly syndrome?", "seeds": [ "Cenani-Lenz syndactyly syndrome" ], "gold_answer": "Abnormal zygomatic bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02057", "question": "What phenotype is associated with Breast-ovarian cancer, familial, susceptibility to, 5?", "seeds": [ "Breast-ovarian cancer, familial, susceptibility to, 5" ], "gold_answer": "Breast carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02058", "question": "What is associated with Abnormal nonverbal communicative behavior?", "seeds": [ "Abnormal nonverbal communicative behavior" ], "gold_answer": "Abnormal cognitive process", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02059", "question": "What is associated with AMME complex?", "seeds": [ "AMME complex" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02060", "question": "What is associated with Cardiac lipidosis, familial?", "seeds": [ "Cardiac lipidosis, familial" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02061", "question": "What is associated with Reduced circulating interleukin 7 concentration?", "seeds": [ "Reduced circulating interleukin 7 concentration" ], "gold_answer": "Abnormal circulating interleukin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02062", "question": "What is associated with Glycogen storage disease due to phosphoglycerate mutase deficiency?", "seeds": [ "Glycogen storage disease due to phosphoglycerate mutase deficiency" ], "gold_answer": "PGAM2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02063", "question": "What phenotype is associated with Shiga toxin-associated hemolytic uremic syndrome?", "seeds": [ "Shiga toxin-associated hemolytic uremic syndrome" ], "gold_answer": "Coma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02064", "question": "What is associated with Elevated urinary collagen degradation products?", "seeds": [ "Elevated urinary collagen degradation products" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02065", "question": "What is associated with Anteverted nares?", "seeds": [ "Anteverted nares" ], "gold_answer": "Abnormal nostril morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02066", "question": "What is associated with Schwartz-Jampel syndrome?", "seeds": [ "Schwartz-Jampel syndrome" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02067", "question": "What is associated with Digital ulcer?", "seeds": [ "Digital ulcer" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02068", "question": "What is associated with Elevated urinary 2-methyl-3-hydroxybutyric acid level?", "seeds": [ "Elevated urinary 2-methyl-3-hydroxybutyric acid level" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02069", "question": "What is associated with Unilateral brachydactyly?", "seeds": [ "Unilateral brachydactyly" ], "gold_answer": "Short digit", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02070", "question": "What is associated with Cold-induced muscle cramps?", "seeds": [ "Cold-induced muscle cramps" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02071", "question": "What is associated with Salpingitis?", "seeds": [ "Salpingitis" ], "gold_answer": "Abnormal fallopian tube morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02072", "question": "What is associated with Sclerotic forearm bones?", "seeds": [ "Sclerotic forearm bones" ], "gold_answer": "Abnormal forearm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02073", "question": "What is associated with Hypoplastic right atrium?", "seeds": [ "Hypoplastic right atrium" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02074", "question": "What is associated with Hepatic sinusoidal dilatation?", "seeds": [ "Hepatic sinusoidal dilatation" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02075", "question": "What is associated with Abnormality of the xiphoid process?", "seeds": [ "Abnormality of the xiphoid process" ], "gold_answer": "Abnormal sternum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02076", "question": "What phenotype is associated with Vitamin B12-unresponsive methylmalonic acidemia type mut0?", "seeds": [ "Vitamin B12-unresponsive methylmalonic acidemia type mut0" ], "gold_answer": "Dystonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02077", "question": "What phenotype is associated with Febrile seizures, familial, 2?", "seeds": [ "Febrile seizures, familial, 2" ], "gold_answer": "Atonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02078", "question": "What is associated with Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation?", "seeds": [ "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation" ], "gold_answer": "NR4A2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02079", "question": "What is associated with Bracket epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Bracket epiphysis of the proximal 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_test_02080", "question": "What is associated with Non-acquired panhypopituitarism?", "seeds": [ "Non-acquired panhypopituitarism" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02081", "question": "What phenotype is associated with Epilepsy, progressive myoclonic, 9?", "seeds": [ "Epilepsy, progressive myoclonic, 9" ], "gold_answer": "Ventriculomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02082", "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_test_02083", "question": "What is associated with Anomic aphasia?", "seeds": [ "Anomic aphasia" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02084", "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_test_02085", "question": "What is associated with Increased urinary renal tubular epithelial cell count?", "seeds": [ "Increased urinary renal tubular epithelial cell count" ], "gold_answer": "Increased urinary epithelial cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02086", "question": "What is associated with X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome?", "seeds": [ "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome" ], "gold_answer": "Abnormal upper lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02087", "question": "What is associated with Spondylometaphyseal dysplasia, X-linked?", "seeds": [ "Spondylometaphyseal dysplasia, X-linked" ], "gold_answer": "Abnormal knee morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02088", "question": "What is associated with Spatulate ribs?", "seeds": [ "Spatulate ribs" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02089", "question": "What is associated with Hypertrophic cardiomyopathy?", "seeds": [ "Hypertrophic cardiomyopathy" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02090", "question": "What phenotype is associated with Encephalopathy due to defective mitochondrial and peroxisomal fission 2?", "seeds": [ "Encephalopathy due to defective mitochondrial and peroxisomal fission 2" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02091", "question": "What is associated with Irregular epiphysis of the proximal phalanx of the 5th finger?", "seeds": [ "Irregular epiphysis of the proximal phalanx of the 5th finger" ], "gold_answer": "Irregular epiphyses of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02092", "question": "What is associated with Hypoplastic iliac wing?", "seeds": [ "Hypoplastic iliac wing" ], "gold_answer": "Abnormal hip bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02093", "question": "What phenotype is associated with Deafness, autosomal recessive 30?", "seeds": [ "Deafness, autosomal recessive 30" ], "gold_answer": "Progressive hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02094", "question": "What is associated with Anti-transglutaminase 6 antibody?", "seeds": [ "Anti-transglutaminase 6 antibody" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02095", "question": "What is associated with Trapezoidal distal femoral condyles?", "seeds": [ "Trapezoidal distal femoral condyles" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02096", "question": "What is associated with Proportionate tall stature?", "seeds": [ "Proportionate tall stature" ], "gold_answer": "Tall stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02097", "question": "What phenotype is associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction?", "seeds": [ "Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02098", "question": "What is associated with Nestor-Guillermo progeria syndrome?", "seeds": [ "Nestor-Guillermo progeria syndrome" ], "gold_answer": "Abnormal atrioventricular valve physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02099", "question": "What phenotype is associated with Proteus-like syndrome?", "seeds": [ "Proteus-like syndrome" ], "gold_answer": "Abnormal pupil morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02100", "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": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02101", "question": "What is associated with Hemoglobin D disease?", "seeds": [ "Hemoglobin D disease" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02102", "question": "What is associated with Abnormal QRS voltage?", "seeds": [ "Abnormal QRS voltage" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02103", "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_test_02104", "question": "What is associated with MOGS-CDG?", "seeds": [ "MOGS-CDG" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02105", "question": "What is associated with Hypogranulosis?", "seeds": [ "Hypogranulosis" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02106", "question": "What phenotype is associated with Polyposis, skin pigmentation, alopecia, and fingernail changes?", "seeds": [ "Polyposis, skin pigmentation, alopecia, and fingernail changes" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02107", "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_test_02108", "question": "What is associated with Citrullinemia type II?", "seeds": [ "Citrullinemia type II" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02109", "question": "What is associated with Familial cylindromatosis?", "seeds": [ "Familial cylindromatosis" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02110", "question": "What is associated with Cutis marmorata telangiectatica congenita?", "seeds": [ "Cutis marmorata telangiectatica congenita" ], "gold_answer": "Nevus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02111", "question": "What is associated with Hyaloid vascular remnant and retrolental mass?", "seeds": [ "Hyaloid vascular remnant and retrolental mass" ], "gold_answer": "Remnants of the hyaloid vascular system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02112", "question": "What is associated with Congenital alveolar dysplasia?", "seeds": [ "Congenital alveolar dysplasia" ], "gold_answer": "Aplasia/Hypoplasia of the lungs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02113", "question": "What phenotype is associated with Acromesomelic dysplasia 4?", "seeds": [ "Acromesomelic dysplasia 4" ], "gold_answer": "Sandal gap", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02114", "question": "What is associated with Abnormal ossification of the trapezoid bone?", "seeds": [ "Abnormal ossification of the trapezoid bone" ], "gold_answer": "Abnormality of carpal bone ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02115", "question": "What is associated with Hypoplastic umbilicus?", "seeds": [ "Hypoplastic umbilicus" ], "gold_answer": "Abnormal umbilicus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02116", "question": "What is associated with Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion?", "seeds": [ "Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02117", "question": "What is associated with Submucous cleft lip?", "seeds": [ "Submucous cleft lip" ], "gold_answer": "Cleft lip", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02118", "question": "What is associated with Decreased cervical spine flexion due to contractures of posterior cervical muscles?", "seeds": [ "Decreased cervical spine flexion due to contractures of posterior cervical muscles" ], "gold_answer": "Joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02119", "question": "What is associated with Hazardous alcohol use?", "seeds": [ "Hazardous alcohol use" ], "gold_answer": "Abnormal alcohol consumption", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02120", "question": "What is associated with Methemoglobinemia, Beta type?", "seeds": [ "Methemoglobinemia, Beta type" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02121", "question": "What is associated with Cranioectodermal dysplasia 5?", "seeds": [ "Cranioectodermal dysplasia 5" ], "gold_answer": "Disproportionate short stature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02122", "question": "What phenotype is associated with 5-@oxoprolinase deficiency?", "seeds": [ "5-@oxoprolinase deficiency" ], "gold_answer": "Enterocolitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02123", "question": "What phenotype is associated with Spastic paraplegia 46, autosomal recessive?", "seeds": [ "Spastic paraplegia 46, autosomal recessive" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02124", "question": "What is associated with Chronic?", "seeds": [ "Chronic" ], "gold_answer": "Temporal pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02125", "question": "What is associated with Thyroid atypical adenoma?", "seeds": [ "Thyroid atypical adenoma" ], "gold_answer": "Thyroid adenoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02126", "question": "What is associated with Enlarged thorax?", "seeds": [ "Enlarged thorax" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02127", "question": "What is associated with Boomerang dysplasia?", "seeds": [ "Boomerang dysplasia" ], "gold_answer": "Disproportionate short-limb short stature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02128", "question": "What is associated with KID syndrome?", "seeds": [ "KID syndrome" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02129", "question": "What phenotype is associated with Spastic paraplegia 23?", "seeds": [ "Spastic paraplegia 23" ], "gold_answer": "Micrognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02130", "question": "What phenotype is associated with Myopathy, myofibrillar, 2, mfm2?", "seeds": [ "Myopathy, myofibrillar, 2, mfm2" ], "gold_answer": "Antinuclear antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02131", "question": "What is associated with Hot cross bun sign?", "seeds": [ "Hot cross bun sign" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02132", "question": "What is associated with Limited elbow flexion?", "seeds": [ "Limited elbow flexion" ], "gold_answer": "Abnormality of the elbow", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02133", "question": "What is associated with GALACTORRHEA?", "seeds": [ "GALACTORRHEA" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02134", "question": "What phenotype is associated with Orofaciodigital syndrome type 5?", "seeds": [ "Orofaciodigital syndrome type 5" ], "gold_answer": "Postaxial foot polydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02135", "question": "What is associated with Autosomal dominant inheritance with maternal imprinting?", "seeds": [ "Autosomal dominant inheritance with maternal imprinting" ], "gold_answer": "Mode of inheritance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02136", "question": "What is associated with Radiating pain?", "seeds": [ "Radiating pain" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02137", "question": "What phenotype is associated with DERMATOGLYPHICS--FINGERPRINT PATTERN?", "seeds": [ "DERMATOGLYPHICS--FINGERPRINT PATTERN" ], "gold_answer": "Abnormal dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02138", "question": "What is associated with Absent epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Absent epiphysis of the proximal phalanx of the 4th finger" ], "gold_answer": "Abnormality of the proximal phalanx of the 4th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02139", "question": "What is associated with Hair-pulling?", "seeds": [ "Hair-pulling" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02140", "question": "What phenotype is associated with C syndrome?", "seeds": [ "C syndrome" ], "gold_answer": "Micrognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02141", "question": "What is associated with Neoplasm of the tracheobronchial system?", "seeds": [ "Neoplasm of the tracheobronchial system" ], "gold_answer": "Neoplasm of the respiratory system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02142", "question": "What is associated with Charcot-Marie-Tooth disease, demyelinating, type 1G?", "seeds": [ "Charcot-Marie-Tooth disease, demyelinating, type 1G" ], "gold_answer": "Abnormal pyramidal sign", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02143", "question": "What is associated with Deep cerebral white matter hyperintensities?", "seeds": [ "Deep cerebral white matter hyperintensities" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02144", "question": "What is associated with Brachydactyly-arterial hypertension syndrome?", "seeds": [ "Brachydactyly-arterial hypertension syndrome" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02145", "question": "What is associated with Cystic hamartoma of lung and kidney?", "seeds": [ "Cystic hamartoma of lung and kidney" ], "gold_answer": "Respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02146", "question": "What is associated with Small intestine carcinoid?", "seeds": [ "Small intestine carcinoid" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02147", "question": "What is associated with Exacerbated by amiodarone exposure?", "seeds": [ "Exacerbated by amiodarone exposure" ], "gold_answer": "Aggravated by exposure to medication", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02148", "question": "What is associated with Abnormal circulating reverse T3 concentration?", "seeds": [ "Abnormal circulating reverse T3 concentration" ], "gold_answer": "Abnormal circulating thyroid hormone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02149", "question": "What is associated with Unilateral renal atrophy?", "seeds": [ "Unilateral renal atrophy" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02150", "question": "What is associated with Abnormal soft palate morphology?", "seeds": [ "Abnormal soft palate morphology" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02151", "question": "What phenotype is associated with Ichthyosis, congenital, autosomal recessive 4B?", "seeds": [ "Ichthyosis, congenital, autosomal recessive 4B" ], "gold_answer": "Congenital ichthyosiform erythroderma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02152", "question": "What is associated with Hypoplastic female external genitalia?", "seeds": [ "Hypoplastic female external genitalia" ], "gold_answer": "Abnormality of the female genitalia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02153", "question": "What is associated with Groin pain?", "seeds": [ "Groin pain" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02154", "question": "What is associated with Autoamputation?", "seeds": [ "Autoamputation" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02155", "question": "What is associated with Axonal regeneration?", "seeds": [ "Axonal regeneration" ], "gold_answer": "Peripheral axonal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02156", "question": "What is associated with Sensory hypersensitivity?", "seeds": [ "Sensory hypersensitivity" ], "gold_answer": "Sensory behavioral abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02157", "question": "What is associated with Agenesis of mandibular lateral incisor?", "seeds": [ "Agenesis of mandibular lateral incisor" ], "gold_answer": "Agenesis of incisor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02158", "question": "What is associated with Focal aware motor seizure with version?", "seeds": [ "Focal aware motor seizure with version" ], "gold_answer": "Focal aware seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02159", "question": "What is associated with Abnormal ventricular filling?", "seeds": [ "Abnormal ventricular filling" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02160", "question": "What is associated with Abnormal auditory canal morphology?", "seeds": [ "Abnormal auditory canal morphology" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02161", "question": "What is associated with Increased CSF phenylalanine concentration?", "seeds": [ "Increased CSF phenylalanine concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02162", "question": "What is associated with Advanced pneumatization of the mastoid process?", "seeds": [ "Advanced pneumatization of the mastoid process" ], "gold_answer": "Abnormal mastoid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02163", "question": "What is associated with Multifocal motor neuropathy?", "seeds": [ "Multifocal motor neuropathy" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02164", "question": "What is associated with Absent nasal bridge?", "seeds": [ "Absent nasal bridge" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02165", "question": "What is associated with Broad foot?", "seeds": [ "Broad foot" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02166", "question": "What is associated with Exercise-induced leg cramps?", "seeds": [ "Exercise-induced leg cramps" ], "gold_answer": "Muscle spasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02167", "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_test_02168", "question": "What is associated with Absent patellar reflexes?", "seeds": [ "Absent patellar reflexes" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02169", "question": "What is associated with Amegakaryocytic thrombocytopenia, congenital, 2?", "seeds": [ "Amegakaryocytic thrombocytopenia, congenital, 2" ], "gold_answer": "Abnormality of multiple cell lineages in the bone marrow", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02170", "question": "What is associated with Extrahepatic biliary duct atresia?", "seeds": [ "Extrahepatic biliary duct atresia" ], "gold_answer": "Abnormal biliary tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02171", "question": "What is associated with Agenesis of putamen?", "seeds": [ "Agenesis of putamen" ], "gold_answer": "Abnormal corpus striatum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02172", "question": "What is associated with Late-infantile/juvenile Krabbe disease?", "seeds": [ "Late-infantile/juvenile Krabbe disease" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02173", "question": "What is associated with Epilepsy, idiopathic generalized?", "seeds": [ "Epilepsy, idiopathic generalized" ], "gold_answer": "EEG with spike-wave complexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02174", "question": "What is associated with ACys amyloidosis?", "seeds": [ "ACys amyloidosis" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02175", "question": "What is associated with Focal impaired awareness cognitive seizure with illusion?", "seeds": [ "Focal impaired awareness cognitive seizure with illusion" ], "gold_answer": "Focal cognitive seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02176", "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_test_02177", "question": "What is associated with Joubert syndrome with renal defect?", "seeds": [ "Joubert syndrome with renal defect" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02178", "question": "What is associated with Abnormal anatomic location of the heart?", "seeds": [ "Abnormal anatomic location of the heart" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02179", "question": "What is associated with Nevus comedonicus?", "seeds": [ "Nevus comedonicus" ], "gold_answer": "Epidermal nevus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02180", "question": "What is associated with Distichiasis?", "seeds": [ "Distichiasis" ], "gold_answer": "Abnormal eyelash morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02181", "question": "What is associated with Athyreosis?", "seeds": [ "Athyreosis" ], "gold_answer": "Hernia of the abdominal wall", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02182", "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_test_02183", "question": "What is associated with Aorto-left ventricular tunnel?", "seeds": [ "Aorto-left ventricular tunnel" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02184", "question": "What phenotype is associated with Congenital pseudoarthrosis of the clavicle?", "seeds": [ "Congenital pseudoarthrosis of the clavicle" ], "gold_answer": "Abnormal lung lobation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02185", "question": "What is associated with Focal cognitive seizure with conduction dysphasia/aphasia?", "seeds": [ "Focal cognitive seizure with conduction dysphasia/aphasia" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02186", "question": "What is associated with 15q11.2 microdeletion syndrome?", "seeds": [ "15q11.2 microdeletion syndrome" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02187", "question": "What is associated with SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO?", "seeds": [ "SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02188", "question": "What is associated with Progeroid features-hepatocellular carcinoma predisposition syndrome?", "seeds": [ "Progeroid features-hepatocellular carcinoma predisposition syndrome" ], "gold_answer": "SPRTN", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_test_02189", "question": "What is associated with Restrictive ventilatory defect?", "seeds": [ "Restrictive ventilatory defect" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02190", "question": "What is associated with Thumb hypoplasia grade 3B?", "seeds": [ "Thumb hypoplasia grade 3B" ], "gold_answer": "Short digit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02191", "question": "What is associated with Pulmonary parenchymal band?", "seeds": [ "Pulmonary parenchymal band" ], "gold_answer": "Pulmonary opacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02192", "question": "What phenotype is associated with Spondyloepimetaphyseal dysplasia, sponastrime type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, sponastrime type" ], "gold_answer": "Lumbar hyperlordosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02193", "question": "What is associated with Abnormality of depressor anguli oris muscle?", "seeds": [ "Abnormality of depressor anguli oris muscle" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02194", "question": "What is associated with Increased anti-seafood IgE antibody level?", "seeds": [ "Increased anti-seafood IgE antibody level" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02195", "question": "What is associated with Birth length greater than 97th percentile?", "seeds": [ "Birth length greater than 97th percentile" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02196", "question": "What is associated with Chitayat syndrome?", "seeds": [ "Chitayat syndrome" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02197", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 72?", "seeds": [ "Intellectual developmental disorder, X-linked 72" ], "gold_answer": "Dolichocephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02198", "question": "What is associated with Mycobacterial and viral infections, susceptibility to, autosomal recessive?", "seeds": [ "Mycobacterial and viral infections, susceptibility to, autosomal recessive" ], "gold_answer": "Recurrent bacterial infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02199", "question": "What is associated with Inflammatory skin and bowel disease, neonatal, 1?", "seeds": [ "Inflammatory skin and bowel disease, neonatal, 1" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02200", "question": "What is associated with Dilated cardiomyopathy?", "seeds": [ "Dilated cardiomyopathy" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02201", "question": "What phenotype is associated with Aniridia and absent patella?", "seeds": [ "Aniridia and absent patella" ], "gold_answer": "Exotropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02202", "question": "What is associated with Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies?", "seeds": [ "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02203", "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 epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02204", "question": "What is associated with Cutaneous angiolipomas?", "seeds": [ "Cutaneous angiolipomas" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02205", "question": "What is associated with Parachute mitral valve?", "seeds": [ "Parachute mitral valve" ], "gold_answer": "Abnormal atrioventricular valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02206", "question": "What is associated with Irregular epiphyses of the elbow?", "seeds": [ "Irregular epiphyses of the elbow" ], "gold_answer": "Irregular epiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02207", "question": "What is associated with Microphthalmia, isolated 1?", "seeds": [ "Microphthalmia, isolated 1" ], "gold_answer": "Aplasia/Hypoplasia affecting the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02208", "question": "What is associated with IRIDA syndrome?", "seeds": [ "IRIDA syndrome" ], "gold_answer": "Abnormal mean corpuscular volume", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02209", "question": "What is associated with Decreased dermal collagen?", "seeds": [ "Decreased dermal collagen" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02210", "question": "What is associated with Increased nuchal translucency?", "seeds": [ "Increased nuchal translucency" ], "gold_answer": "Abnormal neck morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02211", "question": "What is associated with Basal ganglia calcification, idiopathic, 5?", "seeds": [ "Basal ganglia calcification, idiopathic, 5" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02212", "question": "What phenotype is associated with Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome?", "seeds": [ "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome" ], "gold_answer": "Infectious encephalitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02213", "question": "What is associated with Palpebral edema?", "seeds": [ "Palpebral edema" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02214", "question": "What phenotype is associated with Fixed subaortic stenosis?", "seeds": [ "Fixed subaortic stenosis" ], "gold_answer": "Coarctation of the descending aortic arch", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02215", "question": "What is associated with Curved middle phalanges of the hand?", "seeds": [ "Curved middle phalanges of the hand" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02216", "question": "What is associated with Sensorineural deafness with dilated cardiomyopathy?", "seeds": [ "Sensorineural deafness with dilated cardiomyopathy" ], "gold_answer": "Abnormal middle ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02217", "question": "What is associated with Abnormal nail growth?", "seeds": [ "Abnormal nail growth" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02218", "question": "What is associated with X-linked severe congenital neutropenia?", "seeds": [ "X-linked severe congenital neutropenia" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02219", "question": "What is associated with Pleural rub?", "seeds": [ "Pleural rub" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02220", "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_test_02221", "question": "What is associated with Temporal hypotrichosis?", "seeds": [ "Temporal hypotrichosis" ], "gold_answer": "Congenital abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02222", "question": "What is associated with Curved phalanges of the 5th finger?", "seeds": [ "Curved phalanges of the 5th finger" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02223", "question": "What is associated with Absent epiphyses of the 5th toe?", "seeds": [ "Absent epiphyses of the 5th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02224", "question": "What is associated with Hyperautofluorescent retinal lesion?", "seeds": [ "Hyperautofluorescent retinal lesion" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02225", "question": "What phenotype is associated with Tetralogy of Fallot and glaucoma?", "seeds": [ "Tetralogy of Fallot and glaucoma" ], "gold_answer": "Broad forehead", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02226", "question": "What is associated with Danubian endemic familial nephropathy?", "seeds": [ "Danubian endemic familial nephropathy" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02227", "question": "What is associated with Increased circulating osteocalcin level?", "seeds": [ "Increased circulating osteocalcin level" ], "gold_answer": "Abnormal circulating osteocalcin level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02228", "question": "What is associated with Agenesis of premolar?", "seeds": [ "Agenesis of premolar" ], "gold_answer": "Abnormality of premolar", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02229", "question": "What is associated with Dexamethasone-suppressible primary hyperaldosteronism?", "seeds": [ "Dexamethasone-suppressible primary hyperaldosteronism" ], "gold_answer": "Increased circulating aldosterone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02230", "question": "What phenotype is associated with Meier-Gorlin syndrome 3?", "seeds": [ "Meier-Gorlin syndrome 3" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02231", "question": "What is associated with Partial absence of specific antibody response to meningococcus vaccine?", "seeds": [ "Partial absence of specific antibody response to meningococcus vaccine" ], "gold_answer": "Decreased circulating level of specific antibody", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02232", "question": "What is associated with Fusiform ascending tubular aorta aneurysm?", "seeds": [ "Fusiform ascending tubular aorta aneurysm" ], "gold_answer": "Ascending tubular aorta aneurysm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02233", "question": "What phenotype is associated with DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION?", "seeds": [ "DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION" ], "gold_answer": "Duodenal ulcer", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02234", "question": "What phenotype is associated with Pyruvate carboxylase deficiency?", "seeds": [ "Pyruvate carboxylase deficiency" ], "gold_answer": "Hypovolemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02235", "question": "What is associated with Prominent crus of helix?", "seeds": [ "Prominent crus of helix" ], "gold_answer": "Abnormal helix morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02236", "question": "What is associated with Thyroid defect in oxidation and organification of iodide?", "seeds": [ "Thyroid defect in oxidation and organification of iodide" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02237", "question": "What is associated with Tremor, hereditary essential, 5?", "seeds": [ "Tremor, hereditary essential, 5" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02238", "question": "What is associated with Epiphyseal deformities of tubular bones?", "seeds": [ "Epiphyseal deformities of tubular bones" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02239", "question": "What is associated with Labial pseudohypertrophy?", "seeds": [ "Labial pseudohypertrophy" ], "gold_answer": "Abnormal labia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02240", "question": "What phenotype is associated with Uric acid concentration, serum, QTL1?", "seeds": [ "Uric acid concentration, serum, QTL1" ], "gold_answer": "Arthritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02241", "question": "What is associated with Dysharmonic accelerated bone age?", "seeds": [ "Dysharmonic accelerated bone age" ], "gold_answer": "Dysharmonic skeletal maturation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02242", "question": "What is associated with Perianal abscess?", "seeds": [ "Perianal abscess" ], "gold_answer": "Abscess", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02243", "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_test_02244", "question": "What is associated with Abnormal cerumen color?", "seeds": [ "Abnormal cerumen color" ], "gold_answer": "Cerumen abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02245", "question": "What phenotype is associated with Distal myopathy, Tateyama type?", "seeds": [ "Distal myopathy, Tateyama type" ], "gold_answer": "Myalgia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02246", "question": "What is associated with Sputum eosinophilia?", "seeds": [ "Sputum eosinophilia" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02247", "question": "What is associated with Increased core 1 O-glycan level?", "seeds": [ "Increased 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_test_02248", "question": "What is associated with Triangular shaped distal phalanx of the 2nd toe?", "seeds": [ "Triangular shaped distal phalanx of the 2nd toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02249", "question": "What is associated with Long QT syndrome 2?", "seeds": [ "Long QT syndrome 2" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02250", "question": "What is associated with Cleft maxillary alveolar ridge?", "seeds": [ "Cleft maxillary alveolar ridge" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02251", "question": "What is associated with Accessory scrotum?", "seeds": [ "Accessory scrotum" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02252", "question": "What is associated with Unilateral wrist flexion contracture?", "seeds": [ "Unilateral wrist flexion contracture" ], "gold_answer": "Upper-limb joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02253", "question": "What is associated with Polyostotic fibrous dysplasia?", "seeds": [ "Polyostotic fibrous dysplasia" ], "gold_answer": "GNAS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_test_02254", "question": "What is associated with Atrophodermia vermiculata?", "seeds": [ "Atrophodermia vermiculata" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02255", "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_test_02256", "question": "What phenotype is associated with Deafness, autosomal dominant 88?", "seeds": [ "Deafness, autosomal dominant 88" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02257", "question": "What is associated with Germinoma?", "seeds": [ "Germinoma" ], "gold_answer": "Germ cell neoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02258", "question": "What is associated with Abnormal brain FDG positron emission tomography?", "seeds": [ "Abnormal brain FDG positron emission tomography" ], "gold_answer": "Abnormal brain positron emission tomography", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02259", "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": "Pseudoepiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02260", "question": "What is associated with Marginal corneal dystrophy?", "seeds": [ "Marginal corneal dystrophy" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02261", "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": "Abnormality of the epiphyses of the proximal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02262", "question": "What is associated with Small toe?", "seeds": [ "Small toe" ], "gold_answer": "Aplasia/Hypoplasia of toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02263", "question": "What is associated with Gait imbalance?", "seeds": [ "Gait imbalance" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02264", "question": "What is associated with Thyroid cancer, nonmedullary, 1?", "seeds": [ "Thyroid cancer, nonmedullary, 1" ], "gold_answer": "Abnormal thyroid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02265", "question": "What is associated with Abnormal scapula morphology?", "seeds": [ "Abnormal scapula morphology" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02266", "question": "What is associated with Oliver-McFarlane syndrome?", "seeds": [ "Oliver-McFarlane syndrome" ], "gold_answer": "Paraplegia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02267", "question": "What is associated with Small superior frontal cortex?", "seeds": [ "Small superior frontal cortex" ], "gold_answer": "Small cerebral cortex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02268", "question": "What phenotype is associated with Lip, hamartomatous?", "seeds": [ "Lip, hamartomatous" ], "gold_answer": "Hamartoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02269", "question": "What is associated with Hydralazine exposure?", "seeds": [ "Hydralazine exposure" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02270", "question": "What is associated with Pleural lymphangiectasia?", "seeds": [ "Pleural lymphangiectasia" ], "gold_answer": "Abnormal lymphatic vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02271", "question": "What is associated with Muscular dystrophy, congenital, with rapid progression?", "seeds": [ "Muscular dystrophy, congenital, with rapid progression" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02272", "question": "What is associated with Abnormal mouth floor morphology?", "seeds": [ "Abnormal mouth floor morphology" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02273", "question": "What is associated with Dystonia 25?", "seeds": [ "Dystonia 25" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02274", "question": "What is associated with Pachygyria?", "seeds": [ "Pachygyria" ], "gold_answer": "Abnormal cortical gyration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02275", "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_test_02276", "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_test_02277", "question": "What is associated with Congenital earlobe sinuses?", "seeds": [ "Congenital earlobe sinuses" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02278", "question": "What is associated with Recurrent genital herpes?", "seeds": [ "Recurrent genital herpes" ], "gold_answer": "Recurrent herpes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02279", "question": "What is associated with Anasarca?", "seeds": [ "Anasarca" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02280", "question": "What is associated with Intestinal hemangioma?", "seeds": [ "Intestinal hemangioma" ], "gold_answer": "Hemangioma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02281", "question": "What is associated with Neuronopathy, distal hereditary motor, autosomal recessive 10?", "seeds": [ "Neuronopathy, distal hereditary motor, autosomal recessive 10" ], "gold_answer": "Abnormal peripheral myelination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02282", "question": "What is associated with Cytokine storm?", "seeds": [ "Cytokine storm" ], "gold_answer": "Abnormal immune serum protein physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02283", "question": "What phenotype is associated with Autosomal recessive ataxia due to ubiquinone deficiency?", "seeds": [ "Autosomal recessive ataxia due to ubiquinone deficiency" ], "gold_answer": "Developmental regression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02284", "question": "What is associated with Myopathy, congenital, with fiber-type disproportion, X-linked?", "seeds": [ "Myopathy, congenital, with fiber-type disproportion, X-linked" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02285", "question": "What is associated with Enlarged metacarpophalangeal joints?", "seeds": [ "Enlarged metacarpophalangeal joints" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02286", "question": "What is associated with Urinary urgency?", "seeds": [ "Urinary urgency" ], "gold_answer": "Abnormality of the lower urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02287", "question": "What is associated with Freeman-Sheldon syndrome?", "seeds": [ "Freeman-Sheldon syndrome" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02288", "question": "What is associated with Painful defecation?", "seeds": [ "Painful defecation" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02289", "question": "What is associated with Chondrodysplasia punctata 1, X-linked recessive?", "seeds": [ "Chondrodysplasia punctata 1, X-linked recessive" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02290", "question": "What is associated with Pancreatic intraductal papillary mucinous neoplasm?", "seeds": [ "Pancreatic intraductal papillary mucinous neoplasm" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02291", "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_test_02292", "question": "What is associated with Brachioradialis hyporeflexia?", "seeds": [ "Brachioradialis hyporeflexia" ], "gold_answer": "Hyporeflexia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02293", "question": "What is associated with Spondylometaphyseal dysplasia, corner Fracture type?", "seeds": [ "Spondylometaphyseal dysplasia, corner Fracture type" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02294", "question": "What phenotype is associated with Premature ovarian failure 2B?", "seeds": [ "Premature ovarian failure 2B" ], "gold_answer": "Premature ovarian insufficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02295", "question": "What is associated with Subretinal exudate?", "seeds": [ "Subretinal exudate" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02296", "question": "What is associated with Complete duplication of distal phalanx of the thumb?", "seeds": [ "Complete duplication of distal phalanx of the thumb" ], "gold_answer": "Duplication of thumb phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02297", "question": "What is associated with Encephalopathy, acute, infection-induced, susceptibility to, 4?", "seeds": [ "Encephalopathy, acute, infection-induced, susceptibility to, 4" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02298", "question": "What is associated with Noonan syndrome 3?", "seeds": [ "Noonan syndrome 3" ], "gold_answer": "Abnormal hair quantity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02299", "question": "What phenotype is associated with PCNA-related progressive neurodegenerative photosensitivity syndrome?", "seeds": [ "PCNA-related progressive neurodegenerative photosensitivity syndrome" ], "gold_answer": "Hypoxemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02300", "question": "What is associated with Ameliorated by riboflavin?", "seeds": [ "Ameliorated by riboflavin" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02301", "question": "What is associated with Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities?", "seeds": [ "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" ], "gold_answer": "Aplasia/Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02302", "question": "What is associated with Childhood-onset basal ganglia degeneration syndrome?", "seeds": [ "Childhood-onset basal ganglia degeneration syndrome" ], "gold_answer": "VAC14", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02303", "question": "What is associated with Caudate atrophy?", "seeds": [ "Caudate atrophy" ], "gold_answer": "Brain atrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02304", "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_test_02305", "question": "What is associated with Abnormal CSF arginine concentration?", "seeds": [ "Abnormal CSF arginine concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02306", "question": "What is associated with Isolated growth hormone deficiency type IV?", "seeds": [ "Isolated growth hormone deficiency type IV" ], "gold_answer": "GHRHR", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02307", "question": "What is associated with Purulent sputum?", "seeds": [ "Purulent sputum" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02308", "question": "What phenotype is associated with Marden-Walker syndrome?", "seeds": [ "Marden-Walker syndrome" ], "gold_answer": "Anteverted nares", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02309", "question": "What is associated with Myoclonic seizure?", "seeds": [ "Myoclonic seizure" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02310", "question": "What is associated with Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly?", "seeds": [ "Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly" ], "gold_answer": "Skin tags", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02311", "question": "What is associated with Hereditary motor and sensory neuropathy VIA?", "seeds": [ "Hereditary motor and sensory neuropathy VIA" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02312", "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": "Aplasia of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02313", "question": "What is associated with Tetanus?", "seeds": [ "Tetanus" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02314", "question": "What phenotype is associated with Glycine encephalopathy?", "seeds": [ "Glycine encephalopathy" ], "gold_answer": "Abnormal metabolic brain imaging by MRS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02315", "question": "What phenotype is associated with Retinitis pigmentosa 26?", "seeds": [ "Retinitis pigmentosa 26" ], "gold_answer": "Optic disc pallor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02316", "question": "What is associated with Delayed ossification of the sacrum?", "seeds": [ "Delayed ossification of the sacrum" ], "gold_answer": "Abnormal sacrum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02317", "question": "What is associated with Abnormal circulating superoxide dismutase activity?", "seeds": [ "Abnormal circulating superoxide dismutase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02318", "question": "What is associated with Myofibromatosis, infantile, 1?", "seeds": [ "Myofibromatosis, infantile, 1" ], "gold_answer": "Sarcoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02319", "question": "What is associated with Difficulty climbing stairs?", "seeds": [ "Difficulty climbing stairs" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02320", "question": "What is associated with Brachydactyly, type A2, with microcephaly?", "seeds": [ "Brachydactyly, type A2, with microcephaly" ], "gold_answer": "Aplasia/Hypoplasia of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02321", "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_test_02322", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 62?", "seeds": [ "Developmental and epileptic encephalopathy 62" ], "gold_answer": "Central nervous system degeneration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02323", "question": "What phenotype is associated with Neuronopathy, distal hereditary motor, type X?", "seeds": [ "Neuronopathy, distal hereditary motor, type X" ], "gold_answer": "Small thenar eminence", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02324", "question": "What is associated with Positive blood infectious agent test?", "seeds": [ "Positive blood infectious agent test" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02325", "question": "What phenotype is associated with Acne inversa, familial?", "seeds": [ "Acne inversa, familial" ], "gold_answer": "Atypical scarring of skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02326", "question": "What is associated with Myopathy?", "seeds": [ "Myopathy" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02327", "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_test_02328", "question": "What phenotype is associated with Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis?", "seeds": [ "Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" ], "gold_answer": "Knee dislocation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02329", "question": "What is associated with Slender long bone?", "seeds": [ "Slender long bone" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02330", "question": "What is associated with Exostoses, multiple, type III?", "seeds": [ "Exostoses, multiple, type III" ], "gold_answer": "Exostoses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02331", "question": "What is associated with Globulin anomaly involving beta (2a)-globulin?", "seeds": [ "Globulin anomaly involving beta (2a)-globulin" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02332", "question": "What is associated with Mesenteric cyst?", "seeds": [ "Mesenteric cyst" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02333", "question": "What phenotype is associated with Retinitis pigmentosa 60?", "seeds": [ "Retinitis pigmentosa 60" ], "gold_answer": "Posterior subcapsular cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02334", "question": "What is associated with Increased anti-insect IgE antibody level?", "seeds": [ "Increased anti-insect IgE antibody level" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02335", "question": "What is associated with Absent internal genitalia?", "seeds": [ "Absent internal genitalia" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02336", "question": "What is associated with Kallmann syndrome-heart disease syndrome?", "seeds": [ "Kallmann syndrome-heart disease syndrome" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02337", "question": "What is associated with Decreased circulating luteinizing hormone level?", "seeds": [ "Decreased circulating luteinizing hormone level" ], "gold_answer": "Abnormal circulating gonadotropin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02338", "question": "What is associated with Renal amyloidosis?", "seeds": [ "Renal amyloidosis" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02339", "question": "What is associated with Impacted cerumen?", "seeds": [ "Impacted cerumen" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02340", "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_test_02341", "question": "What is associated with Grade V vesicoureteral reflux?", "seeds": [ "Grade V vesicoureteral reflux" ], "gold_answer": "Vesicoureteral reflux", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02342", "question": "What is associated with Frontal upsweep of hair?", "seeds": [ "Frontal upsweep of hair" ], "gold_answer": "Congenital abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02343", "question": "What is associated with Osteolysis involving bones of the lower limbs?", "seeds": [ "Osteolysis involving bones of the lower limbs" ], "gold_answer": "Abnormal bone structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02344", "question": "What is associated with Increased hematocrit?", "seeds": [ "Increased hematocrit" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02345", "question": "What phenotype is associated with Craniofacial dyssynostosis with short stature?", "seeds": [ "Craniofacial dyssynostosis with short stature" ], "gold_answer": "Malar flattening", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02346", "question": "What is associated with Muscular dystrophy, limb-girdle, autosomal recessive 10?", "seeds": [ "Muscular dystrophy, limb-girdle, autosomal recessive 10" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02347", "question": "What is associated with Pulmonary oligemia?", "seeds": [ "Pulmonary oligemia" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02348", "question": "What is associated with Salpingitis?", "seeds": [ "Salpingitis" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02349", "question": "What is associated with Combined oxidative phosphorylation deficiency 34?", "seeds": [ "Combined oxidative phosphorylation deficiency 34" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02350", "question": "What phenotype is associated with Cerebellar atrophy, developmental delay, and seizures?", "seeds": [ "Cerebellar atrophy, developmental delay, and seizures" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02351", "question": "What is associated with Abnormal meiosis?", "seeds": [ "Abnormal meiosis" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02352", "question": "What is associated with Dystonic gait?", "seeds": [ "Dystonic gait" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02353", "question": "What is associated with Fractured middle phalanx of manual digit 2?", "seeds": [ "Fractured middle phalanx of manual digit 2" ], "gold_answer": "Abnormality of the phalanges of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02354", "question": "What is associated with Atoll sign?", "seeds": [ "Atoll sign" ], "gold_answer": "Abnormal pulmonary thoracic imaging finding", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02355", "question": "What is associated with Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia?", "seeds": [ "Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" ], "gold_answer": "Impairment in personality functioning", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02356", "question": "What is associated with Slit-like opening of the exterior auditory meatus?", "seeds": [ "Slit-like opening of the exterior auditory meatus" ], "gold_answer": "Stenosis of the external auditory canal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02357", "question": "What is associated with Hirschsprung disease, susceptibility to, 2?", "seeds": [ "Hirschsprung disease, susceptibility to, 2" ], "gold_answer": "Abnormal enteric nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02358", "question": "What is associated with Duplication of the phalanges of the 2nd toe?", "seeds": [ "Duplication of the phalanges of the 2nd toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02359", "question": "What is associated with Broad proximal phalanx of the 5th toe?", "seeds": [ "Broad proximal phalanx of the 5th toe" ], "gold_answer": "Broad proximal phalanx of toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02360", "question": "What is associated with Severe intellectual disability and progressive spastic paraplegia?", "seeds": [ "Severe intellectual disability and progressive spastic paraplegia" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02361", "question": "What is associated with Short QT syndrome 7?", "seeds": [ "Short QT syndrome 7" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02362", "question": "What is associated with Bilateral ptosis?", "seeds": [ "Bilateral ptosis" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02363", "question": "What phenotype is associated with ANOSMIA?", "seeds": [ "ANOSMIA" ], "gold_answer": "Anosmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02364", "question": "What is associated with Focal impaired awareness epileptic spasm?", "seeds": [ "Focal impaired awareness epileptic spasm" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02365", "question": "What phenotype is associated with Autosomal dominant spastic paraplegia type 19?", "seeds": [ "Autosomal dominant spastic paraplegia type 19" ], "gold_answer": "Abnormal lower-limb motor evoked potentials", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02366", "question": "What phenotype is associated with Combined oxidative phosphorylation deficiency 19?", "seeds": [ "Combined oxidative phosphorylation deficiency 19" ], "gold_answer": "Esophagitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02367", "question": "What is associated with Bloodstream Malaria parasite?", "seeds": [ "Bloodstream Malaria parasite" ], "gold_answer": "Bloodstream infectious agent", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02368", "question": "What is associated with GNE myopathy?", "seeds": [ "GNE myopathy" ], "gold_answer": "Abnormal wrist physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02369", "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_test_02370", "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": "Infectious encephalitis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02371", "question": "What is associated with Hyperconvex fingernails?", "seeds": [ "Hyperconvex fingernails" ], "gold_answer": "Nail dysplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02372", "question": "What is associated with Deformed forearm bones?", "seeds": [ "Deformed forearm bones" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02373", "question": "What phenotype is associated with Hypomagnesemia 3, renal?", "seeds": [ "Hypomagnesemia 3, renal" ], "gold_answer": "Widely spaced teeth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02374", "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_test_02375", "question": "What is associated with Thoracic aorta calcification?", "seeds": [ "Thoracic aorta calcification" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02376", "question": "What phenotype is associated with Aortic aneurysm, familial thoracic 9?", "seeds": [ "Aortic aneurysm, familial thoracic 9" ], "gold_answer": "Arachnodactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02377", "question": "What is associated with Medullary peritubular capillary lumen organized thrombi?", "seeds": [ "Medullary peritubular capillary lumen organized thrombi" ], "gold_answer": "Abnormal medullary peritubular capillary lumen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02378", "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_test_02379", "question": "What is associated with Neutropenia, severe congenital, X-linked?", "seeds": [ "Neutropenia, severe congenital, X-linked" ], "gold_answer": "Abnormal monocyte count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02380", "question": "What is associated with Paroxysmal non-kinesigenic dyskinesia?", "seeds": [ "Paroxysmal non-kinesigenic dyskinesia" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02381", "question": "What is associated with Gallbladder wall thickening?", "seeds": [ "Gallbladder wall thickening" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02382", "question": "What is associated with Liver failure, infantile, transient?", "seeds": [ "Liver failure, infantile, transient" ], "gold_answer": "Cholestasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02383", "question": "What is associated with Lymph-node hemophagocytosis?", "seeds": [ "Lymph-node hemophagocytosis" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02384", "question": "What is associated with Retinitis pigmentosa 30?", "seeds": [ "Retinitis pigmentosa 30" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02385", "question": "What is associated with Hypoplasia of serratus anterior muscle?", "seeds": [ "Hypoplasia of serratus anterior muscle" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02386", "question": "What is associated with Delayed eruption of permanent teeth?", "seeds": [ "Delayed eruption of permanent teeth" ], "gold_answer": "Delayed eruption of teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02387", "question": "What is associated with Agenesis of the anterior commissure?", "seeds": [ "Agenesis of the anterior commissure" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02388", "question": "What is associated with Ileocecal ulcer?", "seeds": [ "Ileocecal ulcer" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02389", "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_test_02390", "question": "What is associated with Abnormal internal genitalia?", "seeds": [ "Abnormal internal genitalia" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02391", "question": "What is associated with Amyotrophic lateral sclerosis 9?", "seeds": [ "Amyotrophic lateral sclerosis 9" ], "gold_answer": "FUS", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02392", "question": "What is associated with Decreased QRS voltage?", "seeds": [ "Decreased QRS voltage" ], "gold_answer": "Abnormal QRS voltage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02393", "question": "What is associated with Spatial pattern?", "seeds": [ "Spatial pattern" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02394", "question": "What is associated with Florid cemento-osseous dysplasia?", "seeds": [ "Florid cemento-osseous dysplasia" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02395", "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 sternum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02396", "question": "What is associated with Duplication of the distal phalanx of the 4th toe?", "seeds": [ "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": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02397", "question": "What phenotype is associated with Brachydactyly, type A2?", "seeds": [ "Brachydactyly, type A2" ], "gold_answer": "Broad hallux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02398", "question": "What is associated with Pituitary gland cyst?", "seeds": [ "Pituitary gland cyst" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02399", "question": "What is associated with Thin vermilion border?", "seeds": [ "Thin vermilion border" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02400", "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_test_02401", "question": "What is associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4?", "seeds": [ "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4" ], "gold_answer": "Abnormal chromosome morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02402", "question": "What is associated with Positive CSF mycobacterium tuberculosis nucleic acid test?", "seeds": [ "Positive CSF mycobacterium tuberculosis nucleic acid test" ], "gold_answer": "Positive CSF infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02403", "question": "What is associated with Homocystinuria without methylmalonic aciduria?", "seeds": [ "Homocystinuria without methylmalonic aciduria" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02404", "question": "What is associated with Premature epimetaphyseal fusion in hand?", "seeds": [ "Premature epimetaphyseal fusion in hand" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02405", "question": "What phenotype 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": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02406", "question": "What is associated with Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation?", "seeds": [ "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation" ], "gold_answer": "MT-TF", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02407", "question": "What is associated with Anteverted ears?", "seeds": [ "Anteverted ears" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02408", "question": "What phenotype is associated with Neurodegeneration with brain iron accumulation 6?", "seeds": [ "Neurodegeneration with brain iron accumulation 6" ], "gold_answer": "Abnormality of the temporomandibular joint", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02409", "question": "What is associated with Charcot-Marie-Tooth disease, type 4B3?", "seeds": [ "Charcot-Marie-Tooth disease, type 4B3" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02410", "question": "What is associated with Abnormal terminal:vellus ratio?", "seeds": [ "Abnormal terminal:vellus ratio" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02411", "question": "What is associated with Helicobacter pylori infection, susceptibility to?", "seeds": [ "Helicobacter pylori infection, susceptibility to" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02412", "question": "What is associated with Bilateral cleft palate?", "seeds": [ "Bilateral cleft palate" ], "gold_answer": "Non-midline cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02413", "question": "What phenotype is associated with Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome?", "seeds": [ "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome" ], "gold_answer": "Dementia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02414", "question": "What is associated with Regional right ventricular hypokinesis?", "seeds": [ "Regional right ventricular hypokinesis" ], "gold_answer": "Abnormal right ventricular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02415", "question": "What is associated with Radioulnar interosseous membrane tear?", "seeds": [ "Radioulnar interosseous membrane tear" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02416", "question": "What is associated with Abnormal total iron binding capacity?", "seeds": [ "Abnormal total iron binding capacity" ], "gold_answer": "Abnormal blood transition element cation concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02417", "question": "What is associated with Abnormality of the hand?", "seeds": [ "Abnormality of the hand" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02418", "question": "What is associated with Ebstein anomaly of the tricuspid valve?", "seeds": [ "Ebstein anomaly of the tricuspid valve" ], "gold_answer": "Abnormal heart valve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02419", "question": "What is associated with Acute otitis media?", "seeds": [ "Acute otitis media" ], "gold_answer": "Abnormal middle ear morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02420", "question": "What is associated with Exostosis of the external auditory canal?", "seeds": [ "Exostosis 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_test_02421", "question": "What phenotype is associated with Leber congenital amaurosis 12?", "seeds": [ "Leber congenital amaurosis 12" ], "gold_answer": "Abnormal macular pigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02422", "question": "What is associated with Acute kidney injury?", "seeds": [ "Acute kidney injury" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02423", "question": "What is associated with Long QT syndrome 11?", "seeds": [ "Long QT syndrome 11" ], "gold_answer": "Abnormal QT interval", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02424", "question": "What is associated with Pontocerebellar hypoplasia, type 5?", "seeds": [ "Pontocerebellar hypoplasia, type 5" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02425", "question": "What phenotype is associated with Periventricular nodular heterotopia 7?", "seeds": [ "Periventricular nodular heterotopia 7" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02426", "question": "What is associated with Gingivitis?", "seeds": [ "Gingivitis" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02427", "question": "What is associated with Pretibial hyperpigmentation?", "seeds": [ "Pretibial hyperpigmentation" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02428", "question": "What phenotype is associated with HYPERLEUCINE-ISOLEUCINEMIA?", "seeds": [ "HYPERLEUCINE-ISOLEUCINEMIA" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02429", "question": "What is associated with Lamellar pulverulent cataract?", "seeds": [ "Lamellar pulverulent cataract" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02430", "question": "What is associated with Epilepsy, focal, with speech disorder and with or without impaired intellectual development?", "seeds": [ "Epilepsy, focal, with speech disorder and with or without impaired intellectual development" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02431", "question": "What is associated with Infantile spasms?", "seeds": [ "Infantile spasms" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02432", "question": "What is associated with Morning myoclonic jerks?", "seeds": [ "Morning myoclonic jerks" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02433", "question": "What is associated with Infantile spasms?", "seeds": [ "Infantile spasms" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02434", "question": "What phenotype is associated with Autoimmune polyendocrinopathy type 3?", "seeds": [ "Autoimmune polyendocrinopathy type 3" ], "gold_answer": "Prostate neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02435", "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_test_02436", "question": "What is associated with Trisomy 12p syndrome?", "seeds": [ "Trisomy 12p syndrome" ], "gold_answer": "Eclabion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02437", "question": "What is associated with Diarrhea 9?", "seeds": [ "Diarrhea 9" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02438", "question": "What is associated with Popliteal cyst?", "seeds": [ "Popliteal cyst" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02439", "question": "What is associated with 2q32q33 deletion syndrome?", "seeds": [ "2q32q33 deletion syndrome" ], "gold_answer": "Abnormal number of teeth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02440", "question": "What is associated with Fever?", "seeds": [ "Fever" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02441", "question": "What is associated with Abnormal macular morphology?", "seeds": [ "Abnormal macular morphology" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02442", "question": "What is associated with Epidermolysis bullosa simplex, generalized, with scarring and hair loss?", "seeds": [ "Epidermolysis bullosa simplex, generalized, with scarring and hair loss" ], "gold_answer": "Nail dystrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02443", "question": "What is associated with Partial duplication of the phalanges of the 2nd finger?", "seeds": [ "Partial duplication of the phalanges of the 2nd finger" ], "gold_answer": "Abnormal 2nd finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02444", "question": "What is associated with Abnormal rib cage morphology?", "seeds": [ "Abnormal rib cage morphology" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02445", "question": "What is associated with Immunodeficiency by defective expression of MHC class II?", "seeds": [ "Immunodeficiency by defective expression of MHC class II" ], "gold_answer": "Abnormal urine cytology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02446", "question": "What is associated with Disturbed perception with a stimulus?", "seeds": [ "Disturbed perception with a stimulus" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02447", "question": "What is associated with Flat nasal alae?", "seeds": [ "Flat nasal alae" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02448", "question": "What is associated with Hip dysplasia, Beukes type?", "seeds": [ "Hip dysplasia, Beukes type" ], "gold_answer": "Arthritis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02449", "question": "What is associated with Anti-GABA(A)R antibody?", "seeds": [ "Anti-GABA(A)R antibody" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02450", "question": "What is associated with Pituitary prolactin cell adenoma?", "seeds": [ "Pituitary prolactin cell adenoma" ], "gold_answer": "Pituitary adenoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02451", "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_test_02452", "question": "What is associated with Mesomelic leg shortening?", "seeds": [ "Mesomelic leg shortening" ], "gold_answer": "Aplasia/hypoplasia of the extremities", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02453", "question": "What is associated with Familial adenomatous polyposis 4?", "seeds": [ "Familial adenomatous polyposis 4" ], "gold_answer": "Abnormal thyroid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02454", "question": "What phenotype is associated with Deafness, autosomal recessive 110?", "seeds": [ "Deafness, autosomal recessive 110" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02455", "question": "What phenotype is associated with Anemia, dyserythropoietic congenital, type IV?", "seeds": [ "Anemia, dyserythropoietic congenital, type IV" ], "gold_answer": "Increased RBC distribution width", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02456", "question": "What is associated with Anti-voltage-gated potassium channel antibody positivity?", "seeds": [ "Anti-voltage-gated potassium channel antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02457", "question": "What is associated with Abnormal cardiac septum morphology?", "seeds": [ "Abnormal cardiac septum morphology" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02458", "question": "What is associated with Cerebellar hemangioblastoma?", "seeds": [ "Cerebellar hemangioblastoma" ], "gold_answer": "Hemangioblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02459", "question": "What is associated with Abnormality of circulating fibrinogen?", "seeds": [ "Abnormality of circulating fibrinogen" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02460", "question": "What is associated with MAN1B1-CDG?", "seeds": [ "MAN1B1-CDG" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02461", "question": "What is associated with Decreased pituitary glycoprotein hormone alpha subunit level?", "seeds": [ "Decreased pituitary glycoprotein hormone alpha subunit level" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02462", "question": "What is associated with EEG with central focal spikes?", "seeds": [ "EEG with central focal spikes" ], "gold_answer": "EEG with focal epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02463", "question": "What is associated with Braddock syndrome?", "seeds": [ "Braddock syndrome" ], "gold_answer": "Elevated pulmonary artery pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02464", "question": "What is associated with Abnormal hyoglossus muscle morphology?", "seeds": [ "Abnormal hyoglossus muscle morphology" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02465", "question": "What is associated with Abnormality of the alternative complement pathway?", "seeds": [ "Abnormality of the alternative complement pathway" ], "gold_answer": "Abnormality of complement system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02466", "question": "What is associated with Chronic monilial nail infection?", "seeds": [ "Chronic monilial nail infection" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02467", "question": "What is associated with Cervical spina bifida?", "seeds": [ "Cervical spina bifida" ], "gold_answer": "Spinal dysraphism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02468", "question": "What is associated with Proximal tibial hypoplasia?", "seeds": [ "Proximal tibial hypoplasia" ], "gold_answer": "Short tibia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02469", "question": "What phenotype is associated with Anemia, X-linked, with or without neutropenia and/or platelet abnormalities?", "seeds": [ "Anemia, X-linked, with or without neutropenia and/or platelet abnormalities" ], "gold_answer": "Bone marrow hypocellularity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02470", "question": "What is associated with Fractured middle phalanx of manual digit 3?", "seeds": [ "Fractured middle phalanx of manual digit 3" ], "gold_answer": "Fractured manual digit bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02471", "question": "What is associated with Christmas tree cataract?", "seeds": [ "Christmas tree cataract" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02472", "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_test_02473", "question": "What is associated with Lacunar halos around chondrocytes?", "seeds": [ "Lacunar halos around chondrocytes" ], "gold_answer": "Abnormal cartilage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02474", "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_test_02475", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 59?", "seeds": [ "Autosomal recessive spastic paraplegia type 59" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02476", "question": "What is associated with Abnormal platelet granules?", "seeds": [ "Abnormal platelet granules" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02477", "question": "What is associated with Respiratory insufficiency?", "seeds": [ "Respiratory insufficiency" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02478", "question": "What is associated with Elevated urine glycolate?", "seeds": [ "Elevated urine glycolate" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02479", "question": "What is associated with Phthisis bulbi?", "seeds": [ "Phthisis bulbi" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02480", "question": "What phenotype is associated with Myotonia fluctuans?", "seeds": [ "Myotonia fluctuans" ], "gold_answer": "Myotonia of the lower limb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02481", "question": "What is associated with Pancreatic fibrosis?", "seeds": [ "Pancreatic fibrosis" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02482", "question": "What is associated with Recurrent bacterial meningitis?", "seeds": [ "Recurrent bacterial meningitis" ], "gold_answer": "Recurrent meningitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02483", "question": "What is associated with OTOSCLEROSIS?", "seeds": [ "OTOSCLEROSIS" ], "gold_answer": "Functional abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02484", "question": "What is associated with Radial deviation of the hand or of fingers of the hand?", "seeds": [ "Radial 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_test_02485", "question": "What is associated with Impaired phorbol myristate acetate-induced platelet aggregation?", "seeds": [ "Impaired phorbol myristate acetate-induced platelet aggregation" ], "gold_answer": "Abnormal platelet function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02486", "question": "What is associated with Moderate hearing impairment?", "seeds": [ "Moderate hearing impairment" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02487", "question": "What phenotype is associated with Motion sickness?", "seeds": [ "Motion sickness" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02488", "question": "What phenotype is associated with Acquired idiopathic sideroblastic anemia?", "seeds": [ "Acquired idiopathic sideroblastic anemia" ], "gold_answer": "Myelodysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02489", "question": "What phenotype is associated with Pierre Robin syndrome?", "seeds": [ "Pierre Robin syndrome" ], "gold_answer": "Glossoptosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02490", "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": "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_test_02491", "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_test_02492", "question": "What is associated with Palmar pruritus?", "seeds": [ "Palmar pruritus" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02493", "question": "What is associated with Persistent bleeding after trauma?", "seeds": [ "Persistent bleeding after trauma" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02494", "question": "What is associated with Duplication of phalanx of 5th finger?", "seeds": [ "Duplication of phalanx of 5th finger" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02495", "question": "What is associated with Distal 22q11.2 microduplication syndrome?", "seeds": [ "Distal 22q11.2 microduplication syndrome" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02496", "question": "What is associated with Absent lunula?", "seeds": [ "Absent lunula" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02497", "question": "What is associated with Transient hyperlipidemia?", "seeds": [ "Transient hyperlipidemia" ], "gold_answer": "Hyperlipidemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02498", "question": "What is associated with Nephronophthisis 12?", "seeds": [ "Nephronophthisis 12" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02499", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 24?", "seeds": [ "Ciliary dyskinesia, primary, 24" ], "gold_answer": "Decreased nasal nitric oxide", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02500", "question": "What is associated with Paucity of peroxisomes?", "seeds": [ "Paucity of peroxisomes" ], "gold_answer": "Abnormal cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02501", "question": "What is associated with Anti-U1 ribonucleoprotein antibody positivity?", "seeds": [ "Anti-U1 ribonucleoprotein antibody positivity" ], "gold_answer": "Extractable nuclear antigen positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02502", "question": "What is associated with Neuronal loss in basal ganglia?", "seeds": [ "Neuronal loss in basal ganglia" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02503", "question": "What is associated with Bullet-shaped proximal phalanx of the hallux?", "seeds": [ "Bullet-shaped proximal phalanx of the hallux" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02504", "question": "What is associated with Short finger?", "seeds": [ "Short finger" ], "gold_answer": "Short digit", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02505", "question": "What is associated with Absent epiphysis of the proximal phalanx of the 4th finger?", "seeds": [ "Absent epiphysis of the proximal phalanx of the 4th finger" ], "gold_answer": "Absent epiphyses of the proximal phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02506", "question": "What is associated with Underfolded superior helices?", "seeds": [ "Underfolded superior helices" ], "gold_answer": "Abnormally folded helix", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02507", "question": "What is associated with Multicentric osteolysis-nodulosis-arthropathy spectrum?", "seeds": [ "Multicentric osteolysis-nodulosis-arthropathy spectrum" ], "gold_answer": "Abnormality of globe location", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02508", "question": "What is associated with Rudimentary to absent tibiae?", "seeds": [ "Rudimentary to absent tibiae" ], "gold_answer": "Aplasia/Hypoplasia of the tibia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02509", "question": "What is associated with Goldberg-Shprintzen megacolon syndrome?", "seeds": [ "Goldberg-Shprintzen megacolon syndrome" ], "gold_answer": "Coloboma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02510", "question": "What phenotype is associated with Short stature-webbed neck-heart disease syndrome?", "seeds": [ "Short stature-webbed neck-heart disease syndrome" ], "gold_answer": "Short neck", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02511", "question": "What is associated with Neuropathic pain?", "seeds": [ "Neuropathic pain" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02512", "question": "What is associated with Peroxisome biogenesis disorder 11B?", "seeds": [ "Peroxisome biogenesis disorder 11B" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02513", "question": "What is associated with Nodular pattern on pulmonary HRCT?", "seeds": [ "Nodular pattern on pulmonary HRCT" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02514", "question": "What is associated with Asymmetric short stature?", "seeds": [ "Asymmetric short stature" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02515", "question": "What is associated with Lymphangiectasis?", "seeds": [ "Lymphangiectasis" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02516", "question": "What is associated with Abnormal brainstem white matter morphology?", "seeds": [ "Abnormal brainstem white matter morphology" ], "gold_answer": "Abnormal brainstem morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02517", "question": "What is associated with Immunodeficiency 119?", "seeds": [ "Immunodeficiency 119" ], "gold_answer": "Verrucae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02518", "question": "What is associated with Renal tubular basement membrane denudation?", "seeds": [ "Renal tubular basement membrane denudation" ], "gold_answer": "Abnormal tubular basement membrane morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02519", "question": "What phenotype is associated with Gyrate atrophy of choroid and retina?", "seeds": [ "Gyrate atrophy of choroid and retina" ], "gold_answer": "Subcapsular cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02520", "question": "What is associated with Delayed patellar ossification?", "seeds": [ "Delayed patellar ossification" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02521", "question": "What is associated with DNAJB6-related distal myopathy?", "seeds": [ "DNAJB6-related distal myopathy" ], "gold_answer": "DNAJB6", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02522", "question": "What is associated with Abnormal choroid plexus morphology?", "seeds": [ "Abnormal choroid plexus morphology" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02523", "question": "What is associated with Trigonocephaly?", "seeds": [ "Trigonocephaly" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02524", "question": "What is associated with Recurrent oral herpes?", "seeds": [ "Recurrent oral herpes" ], "gold_answer": "Unusual viral infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02525", "question": "What is associated with Abnormal upper lip morphology?", "seeds": [ "Abnormal upper lip morphology" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02526", "question": "What phenotype is associated with Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome?", "seeds": [ "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome" ], "gold_answer": "Wide nose", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02527", "question": "What phenotype is associated with Adams-Oliver syndrome 5?", "seeds": [ "Adams-Oliver syndrome 5" ], "gold_answer": "Dystrophic toenail", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02528", "question": "What is associated with Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration?", "seeds": [ "Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02529", "question": "What is associated with Hypothyroidism, congenital, nongoitrous, 2?", "seeds": [ "Hypothyroidism, congenital, nongoitrous, 2" ], "gold_answer": "Abnormal umbilicus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02530", "question": "What is associated with Large vessel vasculitis?", "seeds": [ "Large vessel vasculitis" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02531", "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_test_02532", "question": "What is associated with Deafness, autosomal recessive 99?", "seeds": [ "Deafness, autosomal recessive 99" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02533", "question": "What is associated with Focal segmental glomerulosclerosis 6?", "seeds": [ "Focal segmental glomerulosclerosis 6" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02534", "question": "What is associated with Sebaceous gland carcinoma?", "seeds": [ "Sebaceous gland carcinoma" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02535", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 4?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 4" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02536", "question": "What is associated with Small bowel diverticula?", "seeds": [ "Small bowel diverticula" ], "gold_answer": "Abnormal small intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02537", "question": "What is associated with Chin with H-shaped crease?", "seeds": [ "Chin with H-shaped crease" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02538", "question": "What is associated with Polymicrogyria due to TUBB2B mutation?", "seeds": [ "Polymicrogyria due to TUBB2B mutation" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02539", "question": "What is associated with Abnormal middle ear morphology?", "seeds": [ "Abnormal middle ear morphology" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02540", "question": "What is associated with Multiple mitochondrial dysfunctions syndrome 5?", "seeds": [ "Multiple mitochondrial dysfunctions syndrome 5" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02541", "question": "What is associated with Perifollicular hyperkeratosis?", "seeds": [ "Perifollicular hyperkeratosis" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02542", "question": "What phenotype is associated with Formiminoglutamic aciduria?", "seeds": [ "Formiminoglutamic aciduria" ], "gold_answer": "Abnormal enzyme/coenzyme activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02543", "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_test_02544", "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_test_02545", "question": "What is associated with Resistance to trivial environmental changes?", "seeds": [ "Resistance to trivial environmental changes" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02546", "question": "What phenotype is associated with Subacute cutaneous lupus erythematosus?", "seeds": [ "Subacute cutaneous lupus erythematosus" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02547", "question": "What is associated with EMG: axonal abnormality?", "seeds": [ "EMG: axonal abnormality" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02548", "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_test_02549", "question": "What is associated with Hypoplastic vertebral bodies?", "seeds": [ "Hypoplastic vertebral bodies" ], "gold_answer": "Aplasia/Hypoplasia involving the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02550", "question": "What is associated with Rapid-onset dystonia-parkinsonism?", "seeds": [ "Rapid-onset dystonia-parkinsonism" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02551", "question": "What is associated with Retinal shunt vessels?", "seeds": [ "Retinal shunt vessels" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02552", "question": "What is associated with Bullet-shaped 3rd toe phalanx?", "seeds": [ "Bullet-shaped 3rd toe phalanx" ], "gold_answer": "Abnormal third toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02553", "question": "What is associated with Abnormal pulse pressure?", "seeds": [ "Abnormal pulse pressure" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02554", "question": "What is associated with Dopamine beta-hydroxylase deficiency?", "seeds": [ "Dopamine beta-hydroxylase deficiency" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02555", "question": "What phenotype is associated with IgG4-related dacryoadenitis and sialadenitis?", "seeds": [ "IgG4-related dacryoadenitis and sialadenitis" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02556", "question": "What is associated with Anti-acetylcholine receptor antibody positivity?", "seeds": [ "Anti-acetylcholine receptor antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02557", "question": "What is associated with Febrile seizures, familial, 4?", "seeds": [ "Febrile seizures, familial, 4" ], "gold_answer": "Tonic seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02558", "question": "What is associated with Positive CSF JC-virus antibody positivity?", "seeds": [ "Positive CSF JC-virus antibody positivity" ], "gold_answer": "CSF pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02559", "question": "What is associated with 3-5 finger cutaneous syndactyly?", "seeds": [ "3-5 finger cutaneous syndactyly" ], "gold_answer": "3-5 finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02560", "question": "What is associated with Abnormal 5th metacarpal morphology?", "seeds": [ "Abnormal 5th metacarpal morphology" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02561", "question": "What is associated with Double uterus-hemivagina-renal agenesis syndrome?", "seeds": [ "Double uterus-hemivagina-renal agenesis syndrome" ], "gold_answer": "Septate vagina", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02562", "question": "What is associated with Rectovestibular fistula?", "seeds": [ "Rectovestibular fistula" ], "gold_answer": "Rectal fistula", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02563", "question": "What is associated with Cleft palate-large ears-small head syndrome?", "seeds": [ "Cleft palate-large ears-small head syndrome" ], "gold_answer": "Deviation of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02564", "question": "What is associated with Chorioretinal hyperpigmentation?", "seeds": [ "Chorioretinal hyperpigmentation" ], "gold_answer": "Abnormality of chorioretinal pigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02565", "question": "What is associated with Abnormality of peripheral nervous system electrophysiology?", "seeds": [ "Abnormality of peripheral nervous system electrophysiology" ], "gold_answer": "Abnormal nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02566", "question": "What is associated with Unusual infection by anatomical site?", "seeds": [ "Unusual infection by anatomical site" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02567", "question": "What is associated with Complete duplication of the middle phalanx of the 3rd finger?", "seeds": [ "Complete duplication of the middle 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_test_02568", "question": "What is associated with Vocal cord polyp?", "seeds": [ "Vocal cord polyp" ], "gold_answer": "Abnormal vocal cord morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02569", "question": "What is associated with Urogenital fistula?", "seeds": [ "Urogenital fistula" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02570", "question": "What is associated with Camptodactyly of 2nd-5th fingers?", "seeds": [ "Camptodactyly of 2nd-5th fingers" ], "gold_answer": "Flexion contracture of finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02571", "question": "What is associated with Familial advanced sleep-phase syndrome?", "seeds": [ "Familial advanced sleep-phase syndrome" ], "gold_answer": "PER3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02572", "question": "What is associated with Cerebral creatine deficiency syndrome 2?", "seeds": [ "Cerebral creatine deficiency syndrome 2" ], "gold_answer": "Seizure precipitated by febrile infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02573", "question": "What is associated with Absent phalangeal crease?", "seeds": [ "Absent phalangeal crease" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02574", "question": "What phenotype is associated with Microcephaly and chorioretinopathy, autosomal recessive, 1?", "seeds": [ "Microcephaly and chorioretinopathy, autosomal recessive, 1" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02575", "question": "What is associated with Prolonged REM sleep?", "seeds": [ "Prolonged REM sleep" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02576", "question": "What is associated with Abnormal genital pigmentation?", "seeds": [ "Abnormal genital pigmentation" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02577", "question": "What is associated with Gallbladder disease 4?", "seeds": [ "Gallbladder disease 4" ], "gold_answer": "Abnormality of the gallbladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02578", "question": "What is associated with Deficiency or absence of cytochrome b(-245)?", "seeds": [ "Deficiency or absence of cytochrome b(-245)" ], "gold_answer": "Abnormality of mitochondrial metabolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02579", "question": "What is associated with DPAGT1-CDG?", "seeds": [ "DPAGT1-CDG" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02580", "question": "What is associated with Spastic paraplegia 75, autosomal recessive?", "seeds": [ "Spastic paraplegia 75, autosomal recessive" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02581", "question": "What is associated with Iris cyst?", "seeds": [ "Iris cyst" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02582", "question": "What is associated with Peripheral dysostosis?", "seeds": [ "Peripheral dysostosis" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02583", "question": "What is associated with Osteoporosis-pseudoglioma syndrome?", "seeds": [ "Osteoporosis-pseudoglioma syndrome" ], "gold_answer": "Yellow/white retinal lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02584", "question": "What is associated with Decreased Th1 T cell proportion?", "seeds": [ "Decreased Th1 T cell proportion" ], "gold_answer": "Abnormal T cell physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02585", "question": "What phenotype is associated with Deafness, autosomal recessive 4, with enlarged vestibular aqueduct?", "seeds": [ "Deafness, autosomal recessive 4, with enlarged vestibular aqueduct" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02586", "question": "What is associated with Myopathy, mitochondrial, and ataxia?", "seeds": [ "Myopathy, mitochondrial, and ataxia" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02587", "question": "What is associated with Absent forearm bone?", "seeds": [ "Absent forearm bone" ], "gold_answer": "Aplasia/hypoplasia involving forearm bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02588", "question": "What is associated with Abnormal fetal abdominal circumference?", "seeds": [ "Abnormal fetal abdominal circumference" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02589", "question": "What is associated with Alzheimer disease 4?", "seeds": [ "Alzheimer disease 4" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02590", "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": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02591", "question": "What is associated with Abnormal muscle fiber desmin?", "seeds": [ "Abnormal muscle fiber desmin" ], "gold_answer": "Abnormal muscle fiber protein expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02592", "question": "What is associated with Long palm?", "seeds": [ "Long palm" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02593", "question": "What phenotype is associated with Choroidal atrophy-alopecia syndrome?", "seeds": [ "Choroidal atrophy-alopecia syndrome" ], "gold_answer": "Sparse or absent eyelashes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02594", "question": "What is associated with Leber congenital amaurosis 8?", "seeds": [ "Leber congenital amaurosis 8" ], "gold_answer": "Abnormal choroid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02595", "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_test_02596", "question": "What is associated with Bronchial telangiectasia?", "seeds": [ "Bronchial telangiectasia" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02597", "question": "What phenotype is associated with Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline?", "seeds": [ "Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02598", "question": "What is associated with N-acetylglutamate synthase deficiency?", "seeds": [ "N-acetylglutamate synthase deficiency" ], "gold_answer": "Abnormality of temperature regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02599", "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_test_02600", "question": "What is associated with Frontal lobe dementia?", "seeds": [ "Frontal lobe dementia" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02601", "question": "What is associated with Deafness, autosomal dominant nonsyndromic sensorineural 5?", "seeds": [ "Deafness, autosomal dominant nonsyndromic sensorineural 5" ], "gold_answer": "Progressive hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02602", "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_test_02603", "question": "What is associated with Iris pigment dispersion?", "seeds": [ "Iris pigment dispersion" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02604", "question": "What is associated with Cone-rod dystrophy 15?", "seeds": [ "Cone-rod dystrophy 15" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02605", "question": "What is associated with Epilepsy, familial temporal lobe, 6?", "seeds": [ "Epilepsy, familial temporal lobe, 6" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02606", "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": "Abnormal 5th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02607", "question": "What is associated with Eosinophilic granulomatosis with polyangiitis?", "seeds": [ "Eosinophilic granulomatosis with polyangiitis" ], "gold_answer": "Abnormal systemic blood pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02608", "question": "What is associated with Hypophosphatasia, childhood?", "seeds": [ "Hypophosphatasia, childhood" ], "gold_answer": "Bowing of the long bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02609", "question": "What phenotype is associated with Keratosis follicularis spinulosa decalvans, X-linked?", "seeds": [ "Keratosis follicularis spinulosa decalvans, X-linked" ], "gold_answer": "Keratitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02610", "question": "What phenotype is associated with Glycerol kinase deficiency?", "seeds": [ "Glycerol kinase deficiency" ], "gold_answer": "Vomiting", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02611", "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": "Lower-limb joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02612", "question": "What is associated with Decreased circulating complement C4a concentration?", "seeds": [ "Decreased circulating complement C4a concentration" ], "gold_answer": "Reduced circulating complement concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02613", "question": "What is associated with Localized hirsutism?", "seeds": [ "Localized hirsutism" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02614", "question": "What is associated with X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome?", "seeds": [ "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome" ], "gold_answer": "Abnormally folded helix", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02615", "question": "What is associated with Large posterior fontanelle?", "seeds": [ "Large posterior fontanelle" ], "gold_answer": "Abnormal cranial suture/fontanelle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02616", "question": "What is associated with Abnormal morphology of the pelvis musculature?", "seeds": [ "Abnormal morphology of the pelvis musculature" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02617", "question": "What phenotype is associated with Moyamoya disease?", "seeds": [ "Moyamoya disease" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02618", "question": "What is associated with Polydactyly affecting the 4th toe?", "seeds": [ "Polydactyly affecting the 4th toe" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02619", "question": "What is associated with Single trichilemmoma?", "seeds": [ "Single trichilemmoma" ], "gold_answer": "Skin appendage neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02620", "question": "What is associated with Moyamoya phenomenon?", "seeds": [ "Moyamoya phenomenon" ], "gold_answer": "Abnormal cerebral artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02621", "question": "What phenotype is associated with 46XY sex reversal 5?", "seeds": [ "46XY sex reversal 5" ], "gold_answer": "Abnormality of circulating cortisol level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02622", "question": "What is associated with Decreased peak expiratory flow?", "seeds": [ "Decreased peak expiratory flow" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02623", "question": "What is associated with Isolated optic neuritis?", "seeds": [ "Isolated optic neuritis" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02624", "question": "What is associated with Deafness with labyrinthine aplasia, microtia, and microdontia?", "seeds": [ "Deafness with labyrinthine aplasia, microtia, and microdontia" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02625", "question": "What is associated with Brachydactyly, type A2, with microcephaly?", "seeds": [ "Brachydactyly, type A2, with microcephaly" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02626", "question": "What is associated with Faciocardiomelic syndrome?", "seeds": [ "Faciocardiomelic syndrome" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the skull", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02627", "question": "What is associated with Infection due to encapsulated bacteria?", "seeds": [ "Infection due to encapsulated bacteria" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02628", "question": "What is associated with Ejection click?", "seeds": [ "Ejection click" ], "gold_answer": "Abnormal heart sound", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02629", "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_test_02630", "question": "What is associated with Hypothyroidism, congenital, nongoitrous, 1?", "seeds": [ "Hypothyroidism, congenital, nongoitrous, 1" ], "gold_answer": "Skeletal muscle hypertrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02631", "question": "What is associated with Elevated blood bismuth concentration?", "seeds": [ "Elevated blood bismuth concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02632", "question": "What is associated with Abnormal muscle fiber dystrophin expression?", "seeds": [ "Abnormal muscle fiber dystrophin expression" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02633", "question": "What is associated with Epileptic encephalopathy, early infantile, 9?", "seeds": [ "Epileptic encephalopathy, early infantile, 9" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02634", "question": "What is associated with TRIM32-related limb-girdle muscular dystrophy R8?", "seeds": [ "TRIM32-related limb-girdle muscular dystrophy R8" ], "gold_answer": "Abnormal circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02635", "question": "What is associated with Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome?", "seeds": [ "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome" ], "gold_answer": "Enlarged posterior fossa", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02636", "question": "What is associated with Parkinson disease 19a, juvenile-onset?", "seeds": [ "Parkinson disease 19a, juvenile-onset" ], "gold_answer": "Inability to walk", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02637", "question": "What is associated with Neoplasm of the pituitary gland?", "seeds": [ "Neoplasm of the pituitary gland" ], "gold_answer": "Abnormal pituitary gland morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02638", "question": "What is associated with Cortical peritubular capillary lumen cholesterol emboli?", "seeds": [ "Cortical peritubular capillary lumen cholesterol emboli" ], "gold_answer": "Abnormal cortical peritubular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02639", "question": "What phenotype is associated with Polycystic kidney disease, infantile severe, with tuberous sclerosis?", "seeds": [ "Polycystic kidney disease, infantile severe, with tuberous sclerosis" ], "gold_answer": "Cortical tubers", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02640", "question": "What is associated with Areolar fullness?", "seeds": [ "Areolar fullness" ], "gold_answer": "Abnormal areolar morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02641", "question": "What is associated with Abnormal metacarpophalangeal joint morphology?", "seeds": [ "Abnormal metacarpophalangeal joint morphology" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02642", "question": "What is associated with Spinocerebellar ataxia 13?", "seeds": [ "Spinocerebellar ataxia 13" ], "gold_answer": "Abnormal optic disc morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02643", "question": "What is associated with Abnormal circulating deoxycorticosterone level?", "seeds": [ "Abnormal circulating deoxycorticosterone level" ], "gold_answer": "Abnormal circulating corticosterone level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02644", "question": "What is associated with Hemangioma-Thrombocytopenia syndrome?", "seeds": [ "Hemangioma-Thrombocytopenia syndrome" ], "gold_answer": "Abnormal platelet count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02645", "question": "What is associated with Harderoporphyria?", "seeds": [ "Harderoporphyria" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02646", "question": "What is associated with Tremor, hereditary essential, 6?", "seeds": [ "Tremor, hereditary essential, 6" ], "gold_answer": "Action tremor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02647", "question": "What is associated with Abnormal buccal mucosa cell morphology?", "seeds": [ "Abnormal buccal mucosa cell morphology" ], "gold_answer": "Abnormal cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02648", "question": "What is associated with Abnormal Z disk morphology?", "seeds": [ "Abnormal Z disk morphology" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02649", "question": "What is associated with Abnormal circulating homocysteine concentration?", "seeds": [ "Abnormal circulating homocysteine concentration" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02650", "question": "What phenotype is associated with 46,XX sex reversal 5?", "seeds": [ "46,XX sex reversal 5" ], "gold_answer": "Urogenital sinus anomaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02651", "question": "What phenotype is associated with Spondyloepimetaphyseal dysplasia, Guo-Campeau type?", "seeds": [ "Spondyloepimetaphyseal dysplasia, Guo-Campeau type" ], "gold_answer": "Generalized hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02652", "question": "What is associated with Increased CSF glutamate concentration?", "seeds": [ "Increased CSF glutamate concentration" ], "gold_answer": "Abnormal CSF glutamine family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02653", "question": "What is associated with Microtia-anotia?", "seeds": [ "Microtia-anotia" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02654", "question": "What is associated with Lower limb undergrowth?", "seeds": [ "Lower limb undergrowth" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02655", "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_test_02656", "question": "What is associated with T-wave alternans?", "seeds": [ "T-wave alternans" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02657", "question": "What is associated with Hypercalciuria, absorptive, susceptibility to?", "seeds": [ "Hypercalciuria, absorptive, susceptibility to" ], "gold_answer": "Nephrolithiasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02658", "question": "What phenotype is associated with Baraitser-Winter syndrome 2?", "seeds": [ "Baraitser-Winter syndrome 2" ], "gold_answer": "Retrognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02659", "question": "What is associated with Prolonged G2 phase of cell cycle?", "seeds": [ "Prolonged G2 phase of cell cycle" ], "gold_answer": "Abnormality of the cell cycle", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02660", "question": "What phenotype is associated with Locked-in syndrome?", "seeds": [ "Locked-in syndrome" ], "gold_answer": "Abnormality of the voice", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02661", "question": "What is associated with Lens subluxation?", "seeds": [ "Lens subluxation" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02662", "question": "What is associated with Ejection click?", "seeds": [ "Ejection click" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02663", "question": "What is associated with Podagra?", "seeds": [ "Podagra" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02664", "question": "What is associated with Abnormality of the distal radial epiphysis?", "seeds": [ "Abnormality of the distal radial epiphysis" ], "gold_answer": "Abnormal limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02665", "question": "What is associated with Reduced volume of central subdivision of bed nucleus of stria terminalis?", "seeds": [ "Reduced volume of central subdivision of bed nucleus of stria terminalis" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02666", "question": "What is associated with Myoclonus-dystonia syndrome?", "seeds": [ "Myoclonus-dystonia syndrome" ], "gold_answer": "Abnormal volitional state", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02667", "question": "What is associated with 9q31.1q31.3 microdeletion syndrome?", "seeds": [ "9q31.1q31.3 microdeletion syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the clavicles", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02668", "question": "What is associated with Macular degeneration, age-related, 7?", "seeds": [ "Macular degeneration, age-related, 7" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02669", "question": "What is associated with Abnormal morphology of the proximal phalanx of the 3rd toe?", "seeds": [ "Abnormal morphology of the proximal phalanx of the 3rd toe" ], "gold_answer": "Abnormality of toe proximal phalanx", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02670", "question": "What is associated with Megaepiphyseal dwarfism?", "seeds": [ "Megaepiphyseal dwarfism" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02671", "question": "What phenotype is associated with AICA-ribosiduria?", "seeds": [ "AICA-ribosiduria" ], "gold_answer": "Wide mouth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02672", "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_test_02673", "question": "What phenotype is associated with Oculodental syndrome, Rutherfurd type?", "seeds": [ "Oculodental syndrome, Rutherfurd type" ], "gold_answer": "Abnormal dental morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02674", "question": "What is associated with Reduced muscle telethonin level?", "seeds": [ "Reduced muscle telethonin level" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02675", "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_test_02676", "question": "What is associated with Febrile seizures, familial, 4?", "seeds": [ "Febrile seizures, familial, 4" ], "gold_answer": "Motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02677", "question": "What is associated with Fragmented elastic fibers in the dermis?", "seeds": [ "Fragmented elastic fibers in the dermis" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02678", "question": "What is associated with Digital pitting scar?", "seeds": [ "Digital pitting scar" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02679", "question": "What is associated with Optic disc pallor?", "seeds": [ "Optic disc pallor" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02680", "question": "What is associated with Lethargy?", "seeds": [ "Lethargy" ], "gold_answer": "Abnormal diminished volition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02681", "question": "What is associated with Joint flexor surface localization?", "seeds": [ "Joint flexor surface localization" ], "gold_answer": "Localized", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02682", "question": "What is associated with Proximal limb muscle stiffness?", "seeds": [ "Proximal limb muscle stiffness" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02683", "question": "What phenotype is associated with Temple syndrome due to paternal 14q32.2 hypomethylation?", "seeds": [ "Temple syndrome due to paternal 14q32.2 hypomethylation" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02684", "question": "What is associated with Radiographic modifier?", "seeds": [ "Radiographic modifier" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02685", "question": "What phenotype is associated with Orofaciodigital syndrome type 4?", "seeds": [ "Orofaciodigital syndrome type 4" ], "gold_answer": "Aplasia/Hypoplasia of the tibia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02686", "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_test_02687", "question": "What is associated with Corneal dystrophy, endothelial, X-linked?", "seeds": [ "Corneal dystrophy, endothelial, X-linked" ], "gold_answer": "Central opacification of the cornea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02688", "question": "What phenotype is associated with Cleft palate-stapes fixation-oligodontia syndrome?", "seeds": [ "Cleft palate-stapes fixation-oligodontia syndrome" ], "gold_answer": "Delayed eruption of teeth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02689", "question": "What is associated with Infrequent social engagement with peers?", "seeds": [ "Infrequent social engagement with peers" ], "gold_answer": "Abnormal social development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02690", "question": "What is associated with B-CELL MALIGNANCY, LOW-GRADE?", "seeds": [ "B-CELL MALIGNANCY, LOW-GRADE" ], "gold_answer": "Chronic leukemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02691", "question": "What is associated with Linear IgG deposits along the epidermal basement membrane zone?", "seeds": [ "Linear IgG deposits along the epidermal basement membrane zone" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02692", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 35?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 35" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02693", "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_test_02694", "question": "What is associated with Perisylvian polymicrogyria?", "seeds": [ "Perisylvian polymicrogyria" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02695", "question": "What is associated with Absent scaphoid?", "seeds": [ "Absent scaphoid" ], "gold_answer": "Carpal bone aplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02696", "question": "What is associated with Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy?", "seeds": [ "Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy" ], "gold_answer": "Long-tract sign", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02697", "question": "What is associated with Ivory epiphyses of the 5th finger?", "seeds": [ "Ivory epiphyses of the 5th finger" ], "gold_answer": "Ivory epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02698", "question": "What is associated with Decreased circulating creatine kinase concentration?", "seeds": [ "Decreased circulating creatine kinase concentration" ], "gold_answer": "Abnormal circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02699", "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": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02700", "question": "What is associated with Decreased proportion of central memory CD4-positive T cells?", "seeds": [ "Decreased proportion of central memory CD4-positive T cells" ], "gold_answer": "Abnormal CD4+ memory T cell proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02701", "question": "What is associated with Reduced epidermal collagen IV protein expression?", "seeds": [ "Reduced epidermal collagen IV protein expression" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02702", "question": "What is associated with Absent thoracic vertebra?", "seeds": [ "Absent thoracic vertebra" ], "gold_answer": "Absent vertebra", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02703", "question": "What phenotype is associated with Mesothelioma, malignant?", "seeds": [ "Mesothelioma, malignant" ], "gold_answer": "Malignant mesothelioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02704", "question": "What is associated with Abnormal pancreas morphology?", "seeds": [ "Abnormal pancreas morphology" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02705", "question": "What is associated with Autosomal dominant Charcot-Marie-Tooth disease type 2V?", "seeds": [ "Autosomal dominant Charcot-Marie-Tooth disease type 2V" ], "gold_answer": "NAGLU", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02706", "question": "What phenotype is associated with Glaucoma 3, primary infantile, B?", "seeds": [ "Glaucoma 3, primary infantile, B" ], "gold_answer": "Primary congenital glaucoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02707", "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_test_02708", "question": "What is associated with Multiple epiphyseal dysplasia type 5?", "seeds": [ "Multiple epiphyseal dysplasia type 5" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02709", "question": "What is associated with Vesicoallantoic abdominal wall defect?", "seeds": [ "Vesicoallantoic abdominal wall defect" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02710", "question": "What is associated with Duodenal diverticula?", "seeds": [ "Duodenal diverticula" ], "gold_answer": "Bowel diverticulosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02711", "question": "What is associated with Decreased number of large peripheral myelinated nerve fibers?", "seeds": [ "Decreased number of large peripheral myelinated nerve fibers" ], "gold_answer": "Abnormal peripheral myelination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02712", "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_test_02713", "question": "What is associated with Fetal neck mass?", "seeds": [ "Fetal neck mass" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02714", "question": "What is associated with Temporal lobe calcification?", "seeds": [ "Temporal lobe calcification" ], "gold_answer": "Cerebral calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02715", "question": "What is associated with Ulnar hypoplasia-split foot syndrome?", "seeds": [ "Ulnar hypoplasia-split foot syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the ulna", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02716", "question": "What is associated with Abnormal urinary hypoxanthine level?", "seeds": [ "Abnormal urinary hypoxanthine level" ], "gold_answer": "Abnormal urinary purine level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02717", "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_test_02718", "question": "What phenotype is associated with Gingival fibromatosis-facial dysmorphism syndrome?", "seeds": [ "Gingival fibromatosis-facial dysmorphism syndrome" ], "gold_answer": "Exaggerated cupid's bow", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02719", "question": "What is associated with Sleep-wake inversion?", "seeds": [ "Sleep-wake inversion" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02720", "question": "What is associated with Myeloid maturation arrest?", "seeds": [ "Myeloid maturation arrest" ], "gold_answer": "Bone marrow maturation arrest", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02721", "question": "What is associated with Polydactyly affecting the 4th finger?", "seeds": [ "Polydactyly affecting the 4th finger" ], "gold_answer": "Abnormal 4th finger morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02722", "question": "What is associated with Pseudohypoaldosteronism, type IID?", "seeds": [ "Pseudohypoaldosteronism, type IID" ], "gold_answer": "Abnormal blood monovalent inorganic cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02723", "question": "What is associated with Stimmler syndrome?", "seeds": [ "Stimmler syndrome" ], "gold_answer": "Glucose intolerance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02724", "question": "What is associated with Spermatogenic failure 73?", "seeds": [ "Spermatogenic failure 73" ], "gold_answer": "Infertility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02725", "question": "What phenotype is associated with Prostate cancer, susceptibility to?", "seeds": [ "Prostate cancer, susceptibility to" ], "gold_answer": "Prostate cancer", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02726", "question": "What is associated with Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?", "seeds": [ "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia" ], "gold_answer": "Abnormal neuron morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02727", "question": "What is associated with Periventricular nodular heterotopia 6?", "seeds": [ "Periventricular nodular heterotopia 6" ], "gold_answer": "FLNA", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_test_02728", "question": "What is associated with Nephrotic syndrome, type 5, with or without ocular abnormalities?", "seeds": [ "Nephrotic syndrome, type 5, with or without ocular abnormalities" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02729", "question": "What is associated with Achoo syndrome?", "seeds": [ "Achoo syndrome" ], "gold_answer": "Sneeze", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02730", "question": "What is associated with Increased circulating dehydroepiandrosterone concentration?", "seeds": [ "Increased circulating dehydroepiandrosterone concentration" ], "gold_answer": "Abnormal circulating dehydroepiandrosterone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02731", "question": "What is associated with Defective B cell activation?", "seeds": [ "Defective B cell activation" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02732", "question": "What is associated with Increased circulating apolipoprotein circulation?", "seeds": [ "Increased circulating apolipoprotein circulation" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02733", "question": "What is associated with Positive O'Brien active compression test?", "seeds": [ "Positive O'Brien active compression test" ], "gold_answer": "Positive provocative functional shoulder test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02734", "question": "What is associated with Thyroid C cell hyperplasia?", "seeds": [ "Thyroid C cell hyperplasia" ], "gold_answer": "Abnormal thyroid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02735", "question": "What is associated with Hypercholanemia, familial?", "seeds": [ "Hypercholanemia, familial" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02736", "question": "What is associated with Colonic stenosis?", "seeds": [ "Colonic stenosis" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02737", "question": "What is associated with Chess-pawn distal phalanges?", "seeds": [ "Chess-pawn distal phalanges" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02738", "question": "What is associated with 4-hydroxyphenylacetic aciduria?", "seeds": [ "4-hydroxyphenylacetic aciduria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02739", "question": "What phenotype is associated with Tyrosinemia type 2?", "seeds": [ "Tyrosinemia type 2" ], "gold_answer": "Corneal opacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02740", "question": "What is associated with Melkersson-Rosenthal syndrome?", "seeds": [ "Melkersson-Rosenthal syndrome" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02741", "question": "What is associated with Joint contracture of the 4th finger?", "seeds": [ "Joint contracture of the 4th finger" ], "gold_answer": "Flexion contracture of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02742", "question": "What is associated with Hydrocephalus, congenital, 2, with or without brain or eye anomalies?", "seeds": [ "Hydrocephalus, congenital, 2, with or without brain or eye anomalies" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02743", "question": "What is associated with Hilar lymph node enlargement?", "seeds": [ "Hilar lymph node enlargement" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02744", "question": "What is associated with Increased radioactive iodine uptake?", "seeds": [ "Increased radioactive iodine uptake" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02745", "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_test_02746", "question": "What is associated with Plasma fibronectin deficiency?", "seeds": [ "Plasma fibronectin deficiency" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02747", "question": "What phenotype is associated with Adrenocortical carcinoma with pure aldosterone hypersecretion?", "seeds": [ "Adrenocortical carcinoma with pure aldosterone hypersecretion" ], "gold_answer": "Metabolic alkalosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02748", "question": "What is associated with Congenital peripheral neuropathy?", "seeds": [ "Congenital peripheral neuropathy" ], "gold_answer": "Abnormality of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02749", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 73?", "seeds": [ "Developmental and epileptic encephalopathy 73" ], "gold_answer": "Irritability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02750", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 98?", "seeds": [ "Intellectual developmental disorder, X-linked 98" ], "gold_answer": "Short nose", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02751", "question": "What is associated with Wolfram-like syndrome, autosomal dominant?", "seeds": [ "Wolfram-like syndrome, autosomal dominant" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02752", "question": "What is associated with Immobile lump?", "seeds": [ "Immobile lump" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02753", "question": "What is associated with Increased circulating vitamin E concentration?", "seeds": [ "Increased circulating vitamin E concentration" ], "gold_answer": "Abnormal metabolism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02754", "question": "What is associated with Metacarpal periosteal thickening?", "seeds": [ "Metacarpal periosteal thickening" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02755", "question": "What phenotype is associated with Immunodeficiency 42?", "seeds": [ "Immunodeficiency 42" ], "gold_answer": "Abnormality of the vagina", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02756", "question": "What is associated with Pleural cyst?", "seeds": [ "Pleural cyst" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02757", "question": "What is associated with Impaired ADP-induced platelet aggregation?", "seeds": [ "Impaired ADP-induced platelet aggregation" ], "gold_answer": "Abnormal platelet function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02758", "question": "What phenotype is associated with Otosclerosis 7?", "seeds": [ "Otosclerosis 7" ], "gold_answer": "Childhood onset sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02759", "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": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02760", "question": "What is associated with Abnormal circulating proANP concentration?", "seeds": [ "Abnormal circulating proANP concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02761", "question": "What is associated with Pinhole visual acuity 3.0 LogMAR?", "seeds": [ "Pinhole visual acuity 3.0 LogMAR" ], "gold_answer": "Abnormal pinhole visual acuity test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02762", "question": "What is associated with Retinitis pigmentosa with or without skeletal anomalies?", "seeds": [ "Retinitis pigmentosa with or without skeletal anomalies" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02763", "question": "What is associated with Apical hypertrophic cardiomyopathy?", "seeds": [ "Apical hypertrophic cardiomyopathy" ], "gold_answer": "Hypertrophic cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02764", "question": "What is associated with Brain malformation renal syndrome?", "seeds": [ "Brain malformation renal syndrome" ], "gold_answer": "Abnormal skull base morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02765", "question": "What is associated with Epicanthus tarsalis?", "seeds": [ "Epicanthus tarsalis" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02766", "question": "What is associated with Glomerular capillary wall duplication with cellular interposition?", "seeds": [ "Glomerular capillary wall duplication with cellular interposition" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02767", "question": "What phenotype is associated with Alpha-N-acetylgalactosaminidase deficiency type 3?", "seeds": [ "Alpha-N-acetylgalactosaminidase deficiency type 3" ], "gold_answer": "Hepatomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02768", "question": "What is associated with Fractured metaphysis of femur?", "seeds": [ "Fractured metaphysis of femur" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02769", "question": "What is associated with Chess-pawn distal phalanges?", "seeds": [ "Chess-pawn distal phalanges" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02770", "question": "What is associated with Recurrent distressing nightmares?", "seeds": [ "Recurrent distressing nightmares" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02771", "question": "What is associated with Myeloschisis?", "seeds": [ "Myeloschisis" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02772", "question": "What phenotype is associated with Malaria?", "seeds": [ "Malaria" ], "gold_answer": "Respiratory distress", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02773", "question": "What is associated with Normal pressure hydrocephalus?", "seeds": [ "Normal pressure hydrocephalus" ], "gold_answer": "Abnormal cerebral ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02774", "question": "What is associated with Neurodegeneration, infantile-onset, biotin-responsive?", "seeds": [ "Neurodegeneration, infantile-onset, biotin-responsive" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02775", "question": "What is associated with Rhomboid or triangular shaped 5th finger middle phalanx?", "seeds": [ "Rhomboid or triangular shaped 5th finger middle phalanx" ], "gold_answer": "Triangular shaped middle phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02776", "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_test_02777", "question": "What is associated with Leber congenital amaurosis with early-onset deafness?", "seeds": [ "Leber congenital amaurosis with early-onset deafness" ], "gold_answer": "Diffuse optic disc pallor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02778", "question": "What is associated with Thin ribs-tubular bones-dysmorphism syndrome?", "seeds": [ "Thin ribs-tubular bones-dysmorphism syndrome" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02779", "question": "What is associated with Venular insufficiency, systemic?", "seeds": [ "Venular insufficiency, systemic" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02780", "question": "What is associated with Proptosis?", "seeds": [ "Proptosis" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02781", "question": "What is associated with Cerebellar medulloblastoma?", "seeds": [ "Cerebellar medulloblastoma" ], "gold_answer": "Medulloblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02782", "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_test_02783", "question": "What is associated with Patent ductus arteriosus 2?", "seeds": [ "Patent ductus arteriosus 2" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02784", "question": "What is associated with Enlarged tectum?", "seeds": [ "Enlarged tectum" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02785", "question": "What is associated with Reduced granulocyte CD18 level?", "seeds": [ "Reduced granulocyte CD18 level" ], "gold_answer": "Reduced granulocyte surface marker level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02786", "question": "What is associated with Pancreatic hypoplasia?", "seeds": [ "Pancreatic hypoplasia" ], "gold_answer": "Aplasia/Hypoplasia of the pancreas", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02787", "question": "What is associated with Constipation?", "seeds": [ "Constipation" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02788", "question": "What phenotype is associated with Frasier syndrome?", "seeds": [ "Frasier syndrome" ], "gold_answer": "Gonadoblastoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02789", "question": "What phenotype is associated with Spastic paraplegia 64, autosomal recessive?", "seeds": [ "Spastic paraplegia 64, autosomal recessive" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02790", "question": "What phenotype is associated with Pelvic dysplasia - arthrogryposis of lower limbs?", "seeds": [ "Pelvic dysplasia - arthrogryposis of lower limbs" ], "gold_answer": "Lumbar hyperlordosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02791", "question": "What is associated with Abnormal circulating mannose-binding protein concentration?", "seeds": [ "Abnormal circulating mannose-binding protein concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02792", "question": "What is associated with Spermatogenic failure, X-linked, 3?", "seeds": [ "Spermatogenic failure, X-linked, 3" ], "gold_answer": "Decreased fertility in males", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02793", "question": "What is associated with Weak extraocular muscles?", "seeds": [ "Weak extraocular muscles" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02794", "question": "What is associated with Mucinous neoplasm?", "seeds": [ "Mucinous neoplasm" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02795", "question": "What is associated with Descending aorta hypoplasia?", "seeds": [ "Descending aorta hypoplasia" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02796", "question": "What is associated with Sudden cardiac death?", "seeds": [ "Sudden cardiac death" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02797", "question": "What is associated with Triangular shaped proximal phalanx of the 4th finger?", "seeds": [ "Triangular shaped 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_test_02798", "question": "What is associated with Arthritis?", "seeds": [ "Arthritis" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02799", "question": "What is associated with Childhood onset short-limb short stature?", "seeds": [ "Childhood onset short-limb short stature" ], "gold_answer": "Disproportionate short stature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02800", "question": "What is associated with T-wave inversion?", "seeds": [ "T-wave inversion" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02801", "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_test_02802", "question": "What is associated with Focal impaired awareness cognitive seizure with neglect?", "seeds": [ "Focal impaired awareness cognitive seizure with neglect" ], "gold_answer": "Focal impaired awareness seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02803", "question": "What is associated with Reduced circulating interleukin 9 concentration?", "seeds": [ "Reduced circulating interleukin 9 concentration" ], "gold_answer": "Abnormal circulating interleukin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02804", "question": "What is associated with Diffuse skin atrophy?", "seeds": [ "Diffuse skin atrophy" ], "gold_answer": "Dermal atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02805", "question": "What is associated with Blood group A?", "seeds": [ "Blood group A" ], "gold_answer": "ABO blood group", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02806", "question": "What is associated with Facial expressions not directed to others?", "seeds": [ "Facial expressions not directed to others" ], "gold_answer": "Abnormal nonverbal communicative behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02807", "question": "What is associated with Hyperpigmentation of eyelids?", "seeds": [ "Hyperpigmentation of eyelids" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02808", "question": "What phenotype is associated with Nelson syndrome?", "seeds": [ "Nelson syndrome" ], "gold_answer": "Spinal cord lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02809", "question": "What is associated with Lacrimal duct atresia?", "seeds": [ "Lacrimal duct atresia" ], "gold_answer": "Abnormal nasolacrimal system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02810", "question": "What phenotype is associated with Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase?", "seeds": [ "Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02811", "question": "What is associated with Dull?", "seeds": [ "Dull" ], "gold_answer": "Pain characteristic", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02812", "question": "What is associated with Periventricular heterotopia?", "seeds": [ "Periventricular heterotopia" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02813", "question": "What is associated with Enlarged uterus?", "seeds": [ "Enlarged uterus" ], "gold_answer": "Abnormal uterus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02814", "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_test_02815", "question": "What is associated with Pneumobilia?", "seeds": [ "Pneumobilia" ], "gold_answer": "Abnormal biliary tract morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02816", "question": "What is associated with Splenogonadal fusion?", "seeds": [ "Splenogonadal fusion" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02817", "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_test_02818", "question": "What phenotype is associated with Calvarial doughnut lesions with bone fragility?", "seeds": [ "Calvarial doughnut lesions with bone fragility" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02819", "question": "What is associated with Trigonocephaly?", "seeds": [ "Trigonocephaly" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02820", "question": "What is associated with Increased proportion of central memory CD4-positive T cells?", "seeds": [ "Increased proportion of central memory CD4-positive T cells" ], "gold_answer": "Abnormal CD4+ T cell subset proportion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02821", "question": "What is associated with Cholesterol emboli within interlobular vein lumen?", "seeds": [ "Cholesterol emboli within interlobular vein lumen" ], "gold_answer": "Abnormal intrarenal vein morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02822", "question": "What is associated with Azoospermia, obstructive, with nephrolithiasis?", "seeds": [ "Azoospermia, obstructive, with nephrolithiasis" ], "gold_answer": "Infertility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02823", "question": "What phenotype is associated with Regional odontodysplasia?", "seeds": [ "Regional odontodysplasia" ], "gold_answer": "Abnormality of primary teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02824", "question": "What is associated with Multiple-finger involvement?", "seeds": [ "Multiple-finger involvement" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02825", "question": "What is associated with Abnormal circulating acylcarnitine concentration?", "seeds": [ "Abnormal circulating acylcarnitine concentration" ], "gold_answer": "Abnormal circulating monocarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02826", "question": "What is associated with Abnormal fontanelle morphology?", "seeds": [ "Abnormal fontanelle morphology" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02827", "question": "What phenotype is associated with Myotonia fluctuans?", "seeds": [ "Myotonia fluctuans" ], "gold_answer": "Laryngospasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02828", "question": "What is associated with Toe, fifth, number of phalanges in?", "seeds": [ "Toe, fifth, number of phalanges in" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02829", "question": "What is associated with Delayed membranous cranial ossification?", "seeds": [ "Delayed membranous cranial ossification" ], "gold_answer": "Abnormal shape of the occiput", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02830", "question": "What is associated with Elevated urine pyridinoline level?", "seeds": [ "Elevated urine pyridinoline level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02831", "question": "What is associated with Neurogenic arthrogryposis multiplex congenita?", "seeds": [ "Neurogenic arthrogryposis multiplex congenita" ], "gold_answer": "Joint dislocation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02832", "question": "What phenotype is associated with Ovarian hyperstimulation syndrome?", "seeds": [ "Ovarian hyperstimulation syndrome" ], "gold_answer": "Ovarian cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02833", "question": "What is associated with Charcot-Marie-Tooth disease, X-linked recessive, 3?", "seeds": [ "Charcot-Marie-Tooth disease, X-linked recessive, 3" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02834", "question": "What is associated with Monosomy 22 syndrome?", "seeds": [ "Monosomy 22 syndrome" ], "gold_answer": "Abnormal spleen morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02835", "question": "What is associated with Noonan syndrome 14?", "seeds": [ "Noonan syndrome 14" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02836", "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_test_02837", "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": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02838", "question": "What phenotype is associated with Pachyonychia congenita 4?", "seeds": [ "Pachyonychia congenita 4" ], "gold_answer": "Steatocystoma multiplex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02839", "question": "What is associated with Freezing of gait?", "seeds": [ "Freezing of gait" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02840", "question": "What is associated with Tonic pupil?", "seeds": [ "Tonic pupil" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02841", "question": "What is associated with Recurrent respiratory infections?", "seeds": [ "Recurrent respiratory infections" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02842", "question": "What is associated with Cholesterol crystalluria?", "seeds": [ "Cholesterol crystalluria" ], "gold_answer": "Crystalluria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02843", "question": "What is associated with Abnormality of fibrinolysis?", "seeds": [ "Abnormality of fibrinolysis" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02844", "question": "What is associated with Abnormal femoral epiphysis morphology?", "seeds": [ "Abnormal femoral epiphysis morphology" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02845", "question": "What is associated with Short-rib thoracic dysplasia 22 without polydactyly?", "seeds": [ "Short-rib thoracic dysplasia 22 without polydactyly" ], "gold_answer": "Abnormality of the pylorus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02846", "question": "What is associated with Vasculitis in the skin?", "seeds": [ "Vasculitis in the skin" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02847", "question": "What is associated with Hypoleucinemia?", "seeds": [ "Hypoleucinemia" ], "gold_answer": "Abnormal circulating leucine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02848", "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_test_02849", "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_test_02850", "question": "What is associated with Spastic paraplegia 37, autosomal dominant?", "seeds": [ "Spastic paraplegia 37, autosomal dominant" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02851", "question": "What is associated with Pontocerebellar hypoplasia, type 1F?", "seeds": [ "Pontocerebellar hypoplasia, type 1F" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02852", "question": "What is associated with Mitochondrial DNA depletion syndrome 11?", "seeds": [ "Mitochondrial DNA depletion syndrome 11" ], "gold_answer": "Nausea and vomiting", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02853", "question": "What is associated with Impaired thrombin-induced platelet aggregation?", "seeds": [ "Impaired thrombin-induced platelet aggregation" ], "gold_answer": "Abnormal platelet aggregation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02854", "question": "What is associated with Hyperargininemia?", "seeds": [ "Hyperargininemia" ], "gold_answer": "Abnormal circulating glutamine family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02855", "question": "What is associated with Bullet-shaped middle phalanx of the 4th finger?", "seeds": [ "Bullet-shaped middle phalanx of the 4th finger" ], "gold_answer": "Bullet-shaped phalanges of the 4th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02856", "question": "What is associated with Mycobacterium abscessus abscessus infection?", "seeds": [ "Mycobacterium abscessus abscessus infection" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02857", "question": "What is associated with Abnormal circulating lipoprotein lipase concentration?", "seeds": [ "Abnormal circulating lipoprotein lipase concentration" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02858", "question": "What is associated with Abnormal nervous system electrophysiology?", "seeds": [ "Abnormal nervous system electrophysiology" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02859", "question": "What is associated with Cortical radial artery leukocyte hypercellularity?", "seeds": [ "Cortical radial artery leukocyte hypercellularity" ], "gold_answer": "Abnormal cortical radial artery endothelium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02860", "question": "What is associated with Alveolar capillary dysplasia?", "seeds": [ "Alveolar capillary dysplasia" ], "gold_answer": "Abnormal pulmonary alveolar system development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02861", "question": "What phenotype is associated with Desmoid tumor?", "seeds": [ "Desmoid tumor" ], "gold_answer": "Fibroma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02862", "question": "What is associated with Chronic irritative conjunctivitis?", "seeds": [ "Chronic irritative conjunctivitis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02863", "question": "What is associated with Abnormality of lower limb joint?", "seeds": [ "Abnormality of lower limb joint" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02864", "question": "What is associated with Abnormal corneal thickness?", "seeds": [ "Abnormal corneal thickness" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02865", "question": "What is associated with Coved type ST segment elevation?", "seeds": [ "Coved type ST segment elevation" ], "gold_answer": "Abnormal ST segment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02866", "question": "What is associated with Decreased urinary biopterin level?", "seeds": [ "Decreased urinary biopterin level" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02867", "question": "What is associated with Increased femoral anteversion?", "seeds": [ "Increased femoral anteversion" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02868", "question": "What is associated with Anti-voltage-gated potassium channel antibody positivity?", "seeds": [ "Anti-voltage-gated potassium channel antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02869", "question": "What phenotype is associated with Idiopathic camptocormia?", "seeds": [ "Idiopathic camptocormia" ], "gold_answer": "Atrial septal defect", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02870", "question": "What is associated with Anti-CASPR2?", "seeds": [ "Anti-CASPR2" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02871", "question": "What is associated with Combined oxidative phosphorylation deficiency 7?", "seeds": [ "Combined oxidative phosphorylation deficiency 7" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02872", "question": "What phenotype is associated with Cortical dysplasia, complex, with other brain malformations 12?", "seeds": [ "Cortical dysplasia, complex, with other brain malformations 12" ], "gold_answer": "Premature birth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02873", "question": "What is associated with Deafness, autosomal recessive 70?", "seeds": [ "Deafness, autosomal recessive 70" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02874", "question": "What is associated with Abnormal blood inorganic cation concentration?", "seeds": [ "Abnormal blood inorganic cation concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02875", "question": "What is associated with Abnormal septum pellucidum morphology?", "seeds": [ "Abnormal septum pellucidum morphology" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02876", "question": "What is associated with 2-4 finger cutaneous syndactyly?", "seeds": [ "2-4 finger cutaneous syndactyly" ], "gold_answer": "Syndactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02877", "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_test_02878", "question": "What is associated with Bladder fistula?", "seeds": [ "Bladder fistula" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02879", "question": "What is associated with Joint extensor surface localization?", "seeds": [ "Joint extensor surface localization" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02880", "question": "What is associated with Thyroid dysgenesis?", "seeds": [ "Thyroid dysgenesis" ], "gold_answer": "Abnormal thyroid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02881", "question": "What is associated with Vocal cord paralysis?", "seeds": [ "Vocal cord paralysis" ], "gold_answer": "Vocal cord dysfunction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02882", "question": "What is associated with Plummer-Vinson syndrome?", "seeds": [ "Plummer-Vinson syndrome" ], "gold_answer": "Abnormal tongue morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02883", "question": "What phenotype is associated with Thrombocytopenia 1?", "seeds": [ "Thrombocytopenia 1" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02884", "question": "What is associated with Crigler-Najjar syndrome, type II?", "seeds": [ "Crigler-Najjar syndrome, type II" ], "gold_answer": "Abnormal circulating bilirubin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02885", "question": "What is associated with Abnormal circulating ornithine concentration?", "seeds": [ "Abnormal circulating ornithine concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02886", "question": "What phenotype is associated with Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures?", "seeds": [ "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures" ], "gold_answer": "Synophrys", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02887", "question": "What is associated with Dysplastic aortic valve?", "seeds": [ "Dysplastic aortic valve" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02888", "question": "What is associated with Increased sialylation of N-linked protein glycosylation?", "seeds": [ "Increased sialylation 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_test_02889", "question": "What is associated with Abnormal von Willebrand factor multimer distribution?", "seeds": [ "Abnormal von Willebrand factor multimer distribution" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02890", "question": "What is associated with Developmental cataract?", "seeds": [ "Developmental cataract" ], "gold_answer": "Ocular anterior segment dysgenesis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02891", "question": "What is associated with Leukodystrophy, hypomyelinating, 28?", "seeds": [ "Leukodystrophy, hypomyelinating, 28" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02892", "question": "What is associated with Unilateral ptosis?", "seeds": [ "Unilateral ptosis" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02893", "question": "What is associated with Abnormal fetal pulmonary morphology?", "seeds": [ "Abnormal fetal pulmonary morphology" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02894", "question": "What is associated with Missing ribs?", "seeds": [ "Missing ribs" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02895", "question": "What is associated with Positive CSF Borrelia burgdorferi nucleic acid test?", "seeds": [ "Positive CSF Borrelia burgdorferi nucleic acid test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02896", "question": "What is associated with Protanopia?", "seeds": [ "Protanopia" ], "gold_answer": "Dyschromatopsia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02897", "question": "What phenotype is associated with Thanatophoric dysplasia, glasgow variant?", "seeds": [ "Thanatophoric dysplasia, glasgow variant" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02898", "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": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02899", "question": "What is associated with Reflex asystolic syncope?", "seeds": [ "Reflex asystolic syncope" ], "gold_answer": "Syncope", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02900", "question": "What is associated with T-cell immunodeficiency with thymic aplasia?", "seeds": [ "T-cell immunodeficiency with thymic aplasia" ], "gold_answer": "Abnormal circulating calcium concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02901", "question": "What is associated with Anejaculation?", "seeds": [ "Anejaculation" ], "gold_answer": "Abnormal male reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02902", "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_test_02903", "question": "What is associated with Craniofrontonasal dysplasia?", "seeds": [ "Craniofrontonasal dysplasia" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02904", "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_test_02905", "question": "What is associated with Focal impaired awareness cognitive seizure with dyslexia/alexia?", "seeds": [ "Focal impaired awareness cognitive seizure with dyslexia/alexia" ], "gold_answer": "Focal impaired awareness non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02906", "question": "What is associated with Decreased need for sleep?", "seeds": [ "Decreased need for sleep" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02907", "question": "What is associated with Triangular shaped middle phalanges of the toes?", "seeds": [ "Triangular shaped middle phalanges of the toes" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02908", "question": "What is associated with Sclerotic forearm bones?", "seeds": [ "Sclerotic forearm bones" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02909", "question": "What is associated with Large hands?", "seeds": [ "Large hands" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02910", "question": "What is associated with Central centrifugal cicatricial alopecia?", "seeds": [ "Central centrifugal cicatricial alopecia" ], "gold_answer": "Scarring", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02911", "question": "What is associated with Panner disease?", "seeds": [ "Panner disease" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02912", "question": "What is associated with Mucous membrane pemphigoid?", "seeds": [ "Mucous membrane pemphigoid" ], "gold_answer": "Abnormality of the gingiva", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02913", "question": "What is associated with Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness?", "seeds": [ "Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness" ], "gold_answer": "Recurrent lower respiratory tract infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02914", "question": "What is associated with KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome?", "seeds": [ "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome" ], "gold_answer": "KDM3B", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_test_02915", "question": "What is associated with Elevated circulating CA19-9 concentration?", "seeds": [ "Elevated circulating CA19-9 concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02916", "question": "What is associated with Hyperimmunoglobulinemia D with periodic fever?", "seeds": [ "Hyperimmunoglobulinemia D with periodic fever" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02917", "question": "What is associated with Vaginal pruritus?", "seeds": [ "Vaginal pruritus" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02918", "question": "What is associated with Myokymia?", "seeds": [ "Myokymia" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02919", "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_test_02920", "question": "What is associated with Asymmetrical insertion of the midpiece into the head?", "seeds": [ "Asymmetrical insertion of the midpiece into the head" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02921", "question": "What is associated with Round epiphyses of the upper limbs?", "seeds": [ "Round epiphyses of the upper limbs" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02922", "question": "What is associated with Ectopic ossification in muscle tissue?", "seeds": [ "Ectopic ossification in muscle tissue" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02923", "question": "What is associated with Specific anosmia?", "seeds": [ "Specific anosmia" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02924", "question": "What is associated with Acrania?", "seeds": [ "Acrania" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02925", "question": "What is associated with Fossa navicularis urethral stricture?", "seeds": [ "Fossa navicularis urethral stricture" ], "gold_answer": "Urethral obstruction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02926", "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": "Barrett esophagus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02927", "question": "What is associated with Aplasia/Hypoplasia of the proximal phalanx of the hallux?", "seeds": [ "Aplasia/Hypoplasia of the proximal phalanx of the hallux" ], "gold_answer": "Absent toe", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02928", "question": "What is associated with Wrist flexion contracture?", "seeds": [ "Wrist flexion contracture" ], "gold_answer": "Abnormality of upper limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02929", "question": "What is associated with Contracture of the distal interphalangeal joint of the 3rd toe?", "seeds": [ "Contracture of the distal interphalangeal joint of the 3rd toe" ], "gold_answer": "Flexion contracture of toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02930", "question": "What is associated with Abnormal chylomicron concentration?", "seeds": [ "Abnormal chylomicron concentration" ], "gold_answer": "Abnormal circulating cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02931", "question": "What phenotype is associated with Central core disease?", "seeds": [ "Central core disease" ], "gold_answer": "Delayed ability to walk", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02932", "question": "What is associated with Anti-GD1b IgM antibody positivity?", "seeds": [ "Anti-GD1b IgM antibody positivity" ], "gold_answer": "Anti-ganglioside antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02933", "question": "What phenotype is associated with Gómez-López-Hernández syndrome?", "seeds": [ "Gómez-López-Hernández syndrome" ], "gold_answer": "Hydrocephalus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02934", "question": "What is associated with Progressive myoclonic epilepsy type 7?", "seeds": [ "Progressive myoclonic epilepsy type 7" ], "gold_answer": "KCNC1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_test_02935", "question": "What is associated with Myopathy with extrapyramidal signs?", "seeds": [ "Myopathy with extrapyramidal signs" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02936", "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_test_02937", "question": "What is associated with MMEP syndrome?", "seeds": [ "MMEP syndrome" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02938", "question": "What is associated with Neurofaciodigitorenal syndrome?", "seeds": [ "Neurofaciodigitorenal syndrome" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02939", "question": "What is associated with Anti-p53 antibody positivity?", "seeds": [ "Anti-p53 antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02940", "question": "What is associated with Abnormal corneal stroma morphology?", "seeds": [ "Abnormal corneal stroma morphology" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02941", "question": "What is associated with Anorchism?", "seeds": [ "Anorchism" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02942", "question": "What is associated with Coronal cleft vertebrae?", "seeds": [ "Coronal cleft vertebrae" ], "gold_answer": "Vertebral clefting", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02943", "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_test_02944", "question": "What is associated with Deafness, autosomal recessive 65?", "seeds": [ "Deafness, autosomal recessive 65" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02945", "question": "What is associated with Undetectable pattern electroretinogram?", "seeds": [ "Undetectable pattern electroretinogram" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02946", "question": "What is associated with Submucous cleft hard palate?", "seeds": [ "Submucous cleft hard palate" ], "gold_answer": "Cleft hard palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02947", "question": "What is associated with Oculopharyngeal muscular dystrophy?", "seeds": [ "Oculopharyngeal muscular dystrophy" ], "gold_answer": "Cranial nerve paralysis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02948", "question": "What is associated with Subcapsular cataract?", "seeds": [ "Subcapsular cataract" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02949", "question": "What is associated with Rhonchi?", "seeds": [ "Rhonchi" ], "gold_answer": "Abnormal breath sound", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02950", "question": "What is associated with Patchy sclerosis of 4th finger phalanx?", "seeds": [ "Patchy sclerosis of 4th finger phalanx" ], "gold_answer": "Patchy osteosclerosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02951", "question": "What is associated with Immunodeficiency?", "seeds": [ "Immunodeficiency" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02952", "question": "What is associated with Abnormality of the musculoskeletal system?", "seeds": [ "Abnormality of the musculoskeletal system" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02953", "question": "What is associated with Prolonged whole-blood clotting time?", "seeds": [ "Prolonged whole-blood clotting time" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02954", "question": "What is associated with Subluxation of the small joints of the hand?", "seeds": [ "Subluxation of the small joints of the hand" ], "gold_answer": "Abnormal phalangeal joint morphology of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02955", "question": "What is associated with Abnormal CD25 upregulation upon TCR activation?", "seeds": [ "Abnormal CD25 upregulation upon TCR activation" ], "gold_answer": "Abnormal T cell physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02956", "question": "What is associated with Focal impaired awareness emotional seizure with paranoia?", "seeds": [ "Focal impaired awareness emotional seizure with paranoia" ], "gold_answer": "Focal impaired awareness seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02957", "question": "What is associated with Osteopetrosis, autosomal recessive 9?", "seeds": [ "Osteopetrosis, autosomal recessive 9" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02958", "question": "What is associated with Upper airway obstruction?", "seeds": [ "Upper airway obstruction" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02959", "question": "What is associated with Polygenic inheritance?", "seeds": [ "Polygenic inheritance" ], "gold_answer": "Mode of inheritance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02960", "question": "What is associated with EEG with photoparoxysmal response grade III?", "seeds": [ "EEG with photoparoxysmal response grade III" ], "gold_answer": "EEG with photoparoxysmal response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02961", "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_test_02962", "question": "What is associated with Anti-DREBRIN antibody positivity?", "seeds": [ "Anti-DREBRIN antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02963", "question": "What is associated with Pancreatic hypoplasia?", "seeds": [ "Pancreatic hypoplasia" ], "gold_answer": "Abnormal pancreas morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02964", "question": "What is associated with Lipoyltransferase 1 deficiency?", "seeds": [ "Lipoyltransferase 1 deficiency" ], "gold_answer": "Appendicular spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02965", "question": "What phenotype is associated with Achondrogenesis type 1A?", "seeds": [ "Achondrogenesis type 1A" ], "gold_answer": "Abdominal distention", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02966", "question": "What phenotype is associated with Periventricular nodular heterotopia 7?", "seeds": [ "Periventricular nodular heterotopia 7" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02967", "question": "What is associated with Abnormal vestibular saccule morphology?", "seeds": [ "Abnormal vestibular saccule morphology" ], "gold_answer": "Abnormal inner ear morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02968", "question": "What is associated with Axonal loss?", "seeds": [ "Axonal loss" ], "gold_answer": "Peripheral axonal degeneration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02969", "question": "What is associated with Focal aware vocal automatism seizure?", "seeds": [ "Focal aware vocal automatism seizure" ], "gold_answer": "Focal automatism seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02970", "question": "What is associated with Immunodeficiency 21?", "seeds": [ "Immunodeficiency 21" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02971", "question": "What phenotype is associated with Allergic bronchopulmonary aspergillosis?", "seeds": [ "Allergic bronchopulmonary aspergillosis" ], "gold_answer": "Emphysema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02972", "question": "What is associated with Mercury exposure?", "seeds": [ "Mercury exposure" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02973", "question": "What is associated with Astley-Kendall dysplasia?", "seeds": [ "Astley-Kendall dysplasia" ], "gold_answer": "Abnormal epiphyseal ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02974", "question": "What is associated with Abnormal fallopian tube morphology?", "seeds": [ "Abnormal fallopian tube morphology" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02975", "question": "What is associated with Leukocyte migration defect?", "seeds": [ "Leukocyte migration defect" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02976", "question": "What is associated with Ochronosis?", "seeds": [ "Ochronosis" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02977", "question": "What is associated with Difficulty adjusting from dark to light?", "seeds": [ "Difficulty adjusting from dark to light" ], "gold_answer": "Difficulty adjusting to changes in luminance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02978", "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_test_02979", "question": "What is associated with Midface capillary hemangioma?", "seeds": [ "Midface capillary hemangioma" ], "gold_answer": "Hemangioma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02980", "question": "What is associated with Iliac horns?", "seeds": [ "Iliac horns" ], "gold_answer": "Abnormal hip bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02981", "question": "What is associated with GALACTORRHEA?", "seeds": [ "GALACTORRHEA" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02982", "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_test_02983", "question": "What phenotype is associated with Spastic paraplegia, optic atrophy, and dementia?", "seeds": [ "Spastic paraplegia, optic atrophy, and dementia" ], "gold_answer": "Optic atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_test_02984", "question": "What is associated with Ehlers-danlos syndrome, Hypermobility type?", "seeds": [ "Ehlers-danlos syndrome, Hypermobility type" ], "gold_answer": "Arthritis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02985", "question": "What is associated with Florid cemento-osseous dysplasia?", "seeds": [ "Florid cemento-osseous dysplasia" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02986", "question": "What is associated with Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant?", "seeds": [ "Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02987", "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_test_02988", "question": "What is associated with Increased anterioposterior diameter of thorax?", "seeds": [ "Increased anterioposterior diameter of thorax" ], "gold_answer": "Abnormal rib cage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02989", "question": "What is associated with Piebaldism?", "seeds": [ "Piebaldism" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02990", "question": "What is associated with Bilateral renal atrophy?", "seeds": [ "Bilateral renal atrophy" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02991", "question": "What is associated with Abnormality of nasal musculature?", "seeds": [ "Abnormality of nasal musculature" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02992", "question": "What is associated with Radiation into right arm?", "seeds": [ "Radiation into right arm" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_test_02993", "question": "What is associated with Abnormal level of platelet-activating factor?", "seeds": [ "Abnormal level of platelet-activating factor" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02994", "question": "What is associated with Lens subluxation?", "seeds": [ "Lens subluxation" ], "gold_answer": "Ectopia lentis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02995", "question": "What is associated with Fetal lower urinary tract obstruction?", "seeds": [ "Fetal lower urinary tract obstruction" ], "gold_answer": "Abnormal fetal genitourinary system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02996", "question": "What is associated with Colorectal cancer, susceptibility to, 12?", "seeds": [ "Colorectal cancer, susceptibility to, 12" ], "gold_answer": "Large intestinal polyposis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02997", "question": "What is associated with Irregular epiphysis of the distal phalanx of the 3rd finger?", "seeds": [ "Irregular epiphysis of the distal phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the epiphysis of the distal phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_test_02998", "question": "What is associated with Roifman syndrome?", "seeds": [ "Roifman syndrome" ], "gold_answer": "Temporal cortical atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_test_02999", "question": "What is associated with Copper beaten skull?", "seeds": [ "Copper beaten skull" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } } ]