query string | document string | label int64 |
|---|---|---|
Referring to [START] hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome [END], this syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. | [START] hypodontia-nail dysgenesis syndrome (tooth and nail syndrome) [END] | 0 |
[START] spine cancer [END] is also known as malignant tumor of spinal cord. | [START] malignant cervical tumor (cervical cancer) [END] | 0 |
The concept [START] mfrg (microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome) [END]" belongs to the broader class of Mendelian disease. | [START] growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate (mandibulofacial dysostosis-microcephaly syndrome) [END] | 0 |
[START] joint laxity, short stature, and myopia; jlsm [END] is part of the broader category of rare developmental defect with connective tissue involvement. | [START] kelley-seegmiller syndrome (hypoxanthine guanine phosphoribosyltransferase partial deficiency) [END] | 0 |
[START] amyloidosis, meretoja type [END] is synonymous with finnish type amyloidosis. | [START] al amyloidosis (AL amyloidosis) [END] | 0 |
[START] female orgasmic disorder [END] is also known as inhibited female orgasm. | [START] gonadal dysgenesis of gynecological interest (gonadal dysgenesis of gynecological interest) [END] | 0 |
In the hierarchy of Mendelian disease, [START] isolated right ventricular hypoplasia [END] appears as a child term. | [START] right atrial isomerism (right atrial isomerism (disease)) [END] | 0 |
Referring to [START] sarcoma of central nervous system [END], a sarcoma that arises from the central nervous system. | [START] rhabdomyosarcoma of the cns (central nervous system rhabdomyosarcoma) [END] | 0 |
In ontology terms, [START] charcot-marie-tooth disease dominant intermediate b [END] is a child of the broader category autosomal dominant intermediate Charcot-Marie-Tooth disease. | [START] dnm2 charcot-marie-tooth disease (Charcot-Marie-Tooth disease dominant intermediate b) [END] | 1 |
[START] quadriceps-sparing myopathy [END] is synonymous with inclusion body myopathy, autosomal recessive. | [START] nonaka myopathy (GNE myopathy) (GNE myopathy) [END] | 1 |
[START] jeghers-peutz syndrome [END] (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. | [START] adenomatous polyposis coli, attenuated (familial adenomatous polyposis 1) [END] | 0 |
The concept [START] cardiac tumor [END] is commonly categorized under heart neoplasm. | [START] myocardial neoplasm (neoplasm of myocardium) [END] | 0 |
In the hierarchy of Coffin-Siris syndrome, [START] mental retardation, autosomal dominant 12 [END] appears as a child term. | [START] css (coffin-siris syndrome 1) (Coffin-Siris syndrome 1) [END] | 0 |
[START] mgus (monoclonal gammopathy of uncertain significance) [END] refers to mgus (monoclonal gammopathy of uncertain significance). | [START] benign monoclonal gammopathy (monoclonal gammopathy of uncertain significance) [END] | 1 |
The terms [START] xeroderma pigmentosum, type f/cockayne syndrome [END] and xp6 (xeroderma pigmentosum group f) are often used interchangeably in the literature. | [START] xeroderma pigmentosum group type b (xeroderma pigmentosum group B) [END] | 0 |
[START] parasympathetic nervous system paraganglioma [END] is synonymous with paraganglioma of parasympathetic nervous system. | [START] adrenal gland pheochromocytoma (adrenal gland pheochromocytoma) [END] | 0 |
[START] angiolipoma of epidural spinal canal [END] refers to epidural space angiolipoma. | [START] spinal canal intradural extramedullary neoplasm (intradural extramedullary spinal canal neoplasm) [END] | 0 |
[START] adgrv1 febrile seizures, familial [END] has basis in dysfunction of ADGRV1 | [START] cardiofaciocutaneous syndrome 4 (cardiofaciocutaneous syndrome 4) [END] | 0 |
The terms [START] sckl1 [END] and bird-headed dwarfism are often used interchangeably in the literature. | [START] seckel syndrome 3 (Seckel syndrome 1) [END] | 1 |
[START] sleep wake disorder [END] (or wake disorder, sleep) refers to the same concept. | [START] subwakefullness syndrome (sleep-wake disorder) [END] | 1 |
[START] thyroid hormone resistance, generalized, autosomal recessive; grth [END] is also known as thyroid hormone resistance, generalized, autosomal recessive; grth. | [START] generalized thyroid hormone resistance (thyroid hormone resistance syndrome) [END] | 0 |
[START] vitamin deficiencies [END] is synonymous with vitamin deficiency. | [START] vitamin metabolic disorder (inborn vitamin metabolic disorder) [END] | 0 |
Referring to [START] meningioma of lumbar spinal canal and spinal cord [END], a meningioma that arises from the meninges of the lumbar region of the spinal cord. | [START] lung meningioma (disease) (lung meningioma) [END] | 0 |
[START] subependymal glioma [END] is also known as who grade i ependymal neoplasm. | [START] cns embryonal tumor, nos (central nervous system primitive neuroectodermal neoplasm) [END] | 0 |
The concept [START] genital warts [END] is a specific instance of a broader category including, human papilloma virus infection. | [START] aquagenic keratoderma (aquagenic palmoplantar keratoderma) [END] | 0 |
[START] mental retardation, autosomal dominant type 7 [END] is also known as intellectual disability, autosomal dominant type 7. | [START] intellectual disability, autosomal dominant 6 (intellectual disability, autosomal dominant 6) [END] | 0 |
The terms [START] uqcc2 mitochondrial complex iii deficiency [END] and mitochondrial complex iii deficiency caused by mutation in uqcc2 are often used interchangeably in the literature. | [START] mitochondrial complex 1 deficiency, nuclear type 21 (mitochondrial complex 1 deficiency, nuclear type 21) [END] | 0 |
Referring to [START] syndrome, cubital tunnel [END], manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. | [START] painful bruising syndrome (autoerythrocyte sensitization syndrome) [END] | 0 |
Referring to [START] aquagenic pruritus [END], antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success. | [START] apocrine sweat gland inflammation (hidradenitis) [END] | 0 |
[START] thrombocytopathy, asplenia and miosis [END] (or thrombocytopathy asplenia miosis) refers to the same concept. | [START] stormorken-sjaastad-langslet syndrome (Stormorken syndrome) [END] | 1 |
Referring to [START] ondine curse, congenital [END], association with a Hirschsprung's disease is observed in 16% of the cases. | [START] congenital ondine curse (congenital central hypoventilation syndrome) [END] | 1 |
Referring to [START] osteogenesis imperfecta, type xvii; oi17 [END], any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene. | [START] osteogenesis imperfecta, type viii; oi8 (osteogenesis imperfecta type 8) [END] | 0 |
Referring to [START] disease by anatomical system [END], a disease that disrupts the functioning of an organ system. | [START] disorder of anatomical system (disease by anatomical system) [END] | 1 |
[START] primary central nervous system non-hodgkin lymphoma [END] (or primary central nervous system non-hodgkin lymphoma) refers to the same concept. | [START] central nervous system non-hodgkin lymphoma (central nervous system non-hodgkin lymphoma) [END] | 1 |
[START] progressive non-fluent aphasia [END] is synonymous with non-fluent primary progressive aphasia. | [START] acquired epileptiform aphasia (Landau-Kleffner syndrome) [END] | 0 |
[START] hereditary spherocytosis 1 [END] is synonymous with ank1 hereditary spherocytosis. | [START] sph3 (hereditary spherocytosis type 3) (hereditary spherocytosis type 3) [END] | 0 |
[START] bulbospinal muscular atrophy [END] is also known as bulbospinal muscular atrophy. | [START] spinal muscular atrophy, jokela type (lower motor neuron syndrome with late-adult onset) [END] | 0 |
[START] marijuana abuse [END] is synonymous with marijuana dependence. | [START] caffey disease (Caffey disease) [END] | 0 |
[START] perheentupa syndrome [END] is also known as mulibrey dwarfism. | [START] growth retardation, pulmonary hypertension, and amino aciduria (Rowley-Rosenberg syndrome) [END] | 0 |
[START] exudative vitreoretinopathy type 5 [END] refers to exudative vitreoretinopathy caused by mutation in tspan12. | [START] evr2 (exudative vitreoretinopathy 2, x-linked) (exudative vitreoretinopathy 2, X-linked) [END] | 0 |
[START] pdb2 (paget disease of bone 2, early-onset) [END] refers to paget disease of bone 2, early-onset; pdb2. | [START] paget disease of bone 5, juvenile-onset (juvenile Paget disease) [END] | 0 |
[START] six2-related fnd [END] is synonymous with six2-related frontonasal dysplasia. | [START] six2-related fnd (six2-related frontonasal dysplasia) [END] | 1 |
[START] generalized juvenile polyposis/juvenile polyposis coli [END] (or juvenile polyposis coli) refers to the same concept. | [START] juvenile periodontitis (aggressive periodontitis) [END] | 0 |
[START] adenocarcinoma of the colon [END] falls within the parent group of colon carcinoma. | [START] adenocarcinoma - stomach (gastric adenocarcinoma) [END] | 0 |
The terms [START] intellectual disability, x-linked 107 [END] and intellectual disability, x-linked 107 are often used interchangeably in the literature. | [START] syndromic x-linked intellectual disability 94 (syndromic X-linked intellectual disability 94) [END] | 0 |
[START] corneal opacification with other ocular anomalies [END] is also known as asgd7. | [START] cacp syndrome (camptodactyly-arthropathy-coxa vara-pericarditis syndrome) [END] | 0 |
[START] pneumonia, desquamative interstitial, familial [END] is an alternative name for pneumonitis, desquamative interstitial, familial. | [START] respiratory bronchiolitis interstitial lung disease (desquamative interstitial pneumonia) [END] | 1 |
The terms [START] corpus callosum agenesis of with chorioretinal abnormality [END] and corpus callosum agenesis of with chorioretinal abnormality are often used interchangeably in the literature. | [START] corpus callosum agenesis of with chorioretinal abnormality (Aicardi syndrome) [END] | 1 |
[START] ankle sprains [END] is an alternative name for injury, ankle. | [START] tibial nerve palsy (tibial nerve palsy) [END] | 0 |
[START] thyroid gland hurthle cell carcinoma [END] is an alternative name for hurthle cell carcinoma of thyroid gland. | [START] thyroid gland hurthle cell adenoma (thyroid gland oncocytic adenoma) [END] | 0 |
[START] campomelic syndrome, long-limb type [END] is included in a broader group of conditions known as syndromic disease. | [START] cardiomelic syndrome stratton koehler type (cardiomelic syndrome stratton Koehler type) [END] | 0 |
Referring to [START] neuropathy, distal hereditary motor, type 7a [END], any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene. | [START] neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers (Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome) [END] | 0 |
[START] bcm (blue cone monochromacy) [END] (or bcm (blue cone monochromacy)) refers to the same concept. | [START] x-chromosome-linked achromatopsia (blue cone monochromacy) [END] | 1 |
[START] sexually transmitted disease [END] is an alternative name for sexually transmitted infection. | [START] vd (sexually transmitted disease) (sexually transmitted disease) [END] | 1 |
[START] angiosarcoma of the thyroid gland [END] refers to angiosarcoma (disease) of thyroid gland. | [START] sarcoma of thyroid (thyroid sarcoma) [END] | 0 |
[START] hyperphosphatasia with mental retardation syndrome 6 [END] is an alternative name for hyperphosphatasia-intellectual disability syndrome caused by mutation in pigy. | [START] hyperphosphatasia with mental retardation syndrome 5 (hyperphosphatasia with intellectual disability syndrome 5) [END] | 0 |
[START] parkinson disease 16; park16 [END] is also known as park16. | [START] park12 (PARK12) [END] | 0 |
The concept [START] cleft lip palate dysmorphism kumar type [END] is a specific instance of a broader category including, syndromic disease. | [START] cantu sanchez-corona hernandez syndrome (Cantu sanchez-corona hernandez syndrome) [END] | 0 |
[START] tnf receptor-associated periodic syndrome [END] has basis in dysfunction of TNFRSF1A | [START] fcu (familial cold autoinflammatory syndrome) (familial cold autoinflammatory syndrome) [END] | 0 |
[START] immunodeficiency-centromeric instability-facial anomalies syndrome 2; icf2 [END] is an alternative name for immunodeficiency-centromeric instability-facial anomalies syndrome 2. | [START] autosomal recessive congenital ichthyosis 2 (autosomal recessive congenital ichthyosis 2) [END] | 0 |
[START] atrial fibrillation, familial, 14 [END] is synonymous with atrial fibrillation, familial, type 14. | [START] autosomal recessive nonsyndromic deafness 14 (autosomal recessive nonsyndromic deafness 14) [END] | 0 |
Referring to [START] obsolete kleefstra syndrome [END], an autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3. | [START] partial trisomy of chromosome 9q (partial trisomy of the long arm of chromosome 9) [END] | 0 |
The concept [START] benign familial pemphigus [END] is commonly categorized under pemphigus. | [START] fibrocystic breast changes (breast fibrocystic disease) [END] | 0 |
[START] chronic myeloid leukemia [END] (or chronic myelogenous leukemia) refers to the same concept. | [START] myeloid leukemia (myeloid leukemia) [END] | 0 |
[START] medical condition [END] (or disorders) refers to the same concept. | [START] disease susceptibility (disease susceptibility) [END] | 0 |
[START] syt14 autosomal recessive syndromic cerebellar ataxia [END] is an alternative name for autosomal recessive spinocerebellar ataxia type 11. | [START] autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in grm1 (autosomal recessive spinocerebellar ataxia 13) [END] | 0 |
Referring to [START] vulvar neuroendocrine carcinoma [END], this category includes small cell and large cell neuroendocrine carcinoma. | [START] vulvar epidermoid carcinoma (vulvar squamous cell carcinoma) [END] | 0 |
[START] supranuclear ocular palsy [END] refers to supranuclear ocular palsy. | [START] suprabulbar paresis congenital (Worster-Drought syndrome) [END] | 0 |
[START] generalized epilepsy with febrile seizures plus, type 2; gefsp2 [END] is included in a broader group of conditions known as febrile seizures, familial. | [START] generalized epilepsy with febrile seizures plus (generalized epilepsy with febrile seizures plus) [END] | 0 |
[START] myopathy, hyaline body, autosomal recessive [END] (or myopathy, myosin storage, autosomal recessive) refers to the same concept. | [START] autosomal recessive distal spinal muscular atrophy type 2 (autosomal recessive distal spinal muscular atrophy 2) [END] | 0 |
[START] malignant tumor of endocervix [END] is also known as malignant uterine endocervix tumor. | [START] cervical mucinous adenocarcinoma, endocervical type (endocervical type cervical mucinous adenocarcinoma) [END] | 0 |
The terms [START] dada2 [END] and polyarteritis nodosa, childhood-onset; pan are often used interchangeably in the literature. | [START] vasculitis due to ada2 deficiency (vasculitis due to ADA2 deficiency) [END] | 1 |
[START] arterial calcification of infancy [END] is an alternative name for arterial calcification of infancy. | [START] generalized arterial calcification of infancy (arterial calcification of infancy) [END] | 1 |
[START] primary bone dysplasia [END] is synonymous with primary skeletal dysplasia. | [START] primary bone dysplasia (primary bone dysplasia) [END] | 1 |
[START] drosophila c virus infection [END] refers to drosophila c virus infectious disease. | [START] drosophila c virus infection (Drosophila C virus infection) [END] | 1 |
[START] epithelioid angiomatoses, bacillary [END] (or angiomatosis, epithelioid) refers to the same concept. | [START] bacillary angiomatosis (bacillary angiomatosis) [END] | 1 |
In ontology terms, [START] hypogonadotropic hypogonadism alopecia [END] is a child of the broader category hypogonadism. | [START] features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss (craniofacial-deafness-hand syndrome) [END] | 0 |
[START] deafness, autosomal recessive 8; dfnb8 [END] is also known as autosomal recessive nonsyndromic deafness 8. | [START] deafness, childhood-onset neurosensory, autosomal recessive 8 (autosomal recessive nonsyndromic deafness 8) [END] | 1 |
[START] lattice corneal dystrophy, type 2 [END] refers to amyloidosis due to mutant gelsolin. | [START] corneal dystrophy, lattice type 2 (Finnish type amyloidosis) [END] | 1 |
[START] lacrimal system tumor [END] is an alternative name for malignant lacrimal apparatus neoplasm. | [START] malignant tumour of lacrimal gland (lacrimal gland cancer) [END] | 0 |
Referring to [START] deafness, autosomal dominant type 28 [END], any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene. | [START] autosomal dominant deafness 30 (autosomal dominant nonsyndromic deafness 30) [END] | 0 |
[START] dfny2 [END] is synonymous with deafness, y-linked 2. | [START] dfnb59 (autosomal recessive nonsyndromic deafness 59) [END] | 0 |
The terms [START] deafness, autosomal recessive type 28 [END] and triobp autosomal recessive nonsyndromic deafness are often used interchangeably in the literature. | [START] autosomal recessive nonsyndromic deafness type 28 (autosomal recessive nonsyndromic deafness 28) [END] | 1 |
[START] conradi hunermann syndrome [END] is also known as cdpx2. | [START] conradi hunermann syndrome (X-linked chondrodysplasia punctata 2) [END] | 1 |
[START] inflammatory linear verrucous epidermal nevus [END] is an alternative name for inflammatory linear verrucous epidermal nevus. | [START] mammalian vulva inverted follicular keratosis (vulvar inverted follicular keratosis) [END] | 0 |
[START] adult t-cell leukemia/lymphoma [END] can be grouped under a broader class, adult lymphoma. | [START] t-cell leukemia of adults (adult T-cell leukemia/lymphoma) [END] | 1 |
[START] neoplasm of extragonadal germ cell (extragonadal germ cell tumor) [END] is an alternative name for extragonadal gct, nos. | [START] ovarian germ cell neoplasm (ovarian germ cell tumor) [END] | 0 |
Referring to [START] cancer of gallbladder [END], a carcinoma that arises from epithelial cells of the gall bladder | [START] carcinoma gallbladder (gallbladder carcinoma) [END] | 1 |
[START] mental or behavioural disorder [END] (or mental or behavioural disorder) refers to the same concept. | [START] schizophrenia (schizophrenia (disease)) [END] | 0 |
[START] cdg1f [END] is synonymous with congenital disorder of glycosylation, type if; cdg1f. | [START] congenital disorder of glycosylation type ir (DDOST-CDG) [END] | 0 |
The concept [START] charcot-marie-tooth disease, axonal, autosomal recessive, 2b1 [END] is a specific instance of a broader category including, laminopathy. | [START] charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2 (Charcot-Marie-Tooth disease type 2A2) [END] | 0 |
[START] hypothyroidism central and testicular enlargement [END] refers to hypothyroidism, central, and testicular enlargement. | [START] congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism (hydrocephalus-obesity-hypogonadism syndrome) [END] | 0 |
[START] mucopolysaccharidosis, type ivb; mps4b [END] caused by disruption of beta-galactosidase activity | [START] mucopolysaccharidosis, type iiid; mps3d (Sanfilippo syndrome type D) [END] | 0 |
[START] hereditary lymphedema [END] is an alternative name for early onset lymphedema. | [START] hemophagocytic lymphohistiocytosis, familial (familial hemophagocytic lymphohistiocytosis type 1) [END] | 0 |
[START] lgmd2i [END] is synonymous with muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5; mddgc5. | [START] muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related (autosomal recessive limb-girdle muscular dystrophy type 2I) [END] | 1 |
[START] glycogen storage disease iiib [END] is also known as gde deficiency. | [START] liver glycogen phosphorylase deficiency (glycogen storage disease VI) [END] | 0 |
Referring to [START] vulvar adenocarcinoma [END], an adenocarcinoma that arises from the vulva. | [START] adenocarcinoma of the vulva (vulvar adenocarcinoma) [END] | 1 |
[START] malignant colorectal tumor [END] is synonymous with malignant colorectal tumor. | [START] malignant neoplasm of the large bowel (colorectal cancer) [END] | 1 |
[START] amelogenesis imperfecta hypomaturation type 2a4 [END] is also known as odaph amelogenesis imperfecta. | [START] amelogenesis imperfecta caused by mutation in odaph (amelogenesis imperfecta hypomaturation type 2A4) [END] | 1 |
The concept [START] thygeson's superficial punctate keratitis [END] is commonly categorized under superficial keratitis. | [START] keratosis palmaris et plantaris familiaris (epidermolytic palmoplantar keratoderma) [END] | 0 |
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