query string | document string | label int64 |
|---|---|---|
1p31p32 microdeletion syndrome | brmutd | 1 |
wdhh (pancreatic cholera) | homologous wasting disease | 0 |
alzheimer disease 17; ad17 | alzheimer disease 17; ad17 | 1 |
hereditary brain cavernous angioma | cerebral hemispheric hemangioma | 0 |
bourneville's syndrome (tuberous sclerosis complex) | tuberous sclerosis complex | 1 |
pneumoconiosis | rheumatoid pneumoconiosis | 0 |
neoplasm of the vagina | cervix tumor | 0 |
nasal cavity benign neoplasm | benign neoplasm of nasal cavity | 1 |
hops (infantile hypophosphatasia) | ricket, hypophosphatemic | 0 |
congenital atresia and stenosis of aorta | aortic valves stenosis of the child | 0 |
glucosylceramide beta-glucosidase deficiency | acute cerebral gaucher disease | 1 |
polydactyly, preaxial type 4 | preaxial polydactyly 4 | 1 |
malignant cardiovascular system neoplasm | heart neoplasm (disease) | 0 |
congenital isolated growth hormone deficiency type ii | congenital isolated growth hormone deficiency type ia | 0 |
undifferentiated carcinoma of liver and intrahepatic biliary tract | rare epithelial tumor of liver and intrahepatic biliary tract | 0 |
adcl2 (cutis laxa, autosomal dominant 2) | adcl2 (cutis laxa, autosomal dominant 2) | 1 |
autosomal cominant axonal charcot-marie-tooth disease type 2c | charcot-marie-tooth disease, axonal, autosomal recessive, type 2s | 0 |
bovine digital dermatitis | papillomatous digital dermatitides | 1 |
otfcs | eya1 otofaciocervical syndrome | 1 |
leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia | hdls (hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia) | 0 |
hereditary paroxysmal ataxia with neuromyotonia | myokymia 1 | 1 |
lopes-marques de faria syndrome | lethal encephalopathy due to mitochondrial and peroxisomal fission defect | 0 |
maturity-onset diabetes of the young, type 1; mody1 | type 1 maturity-onset diabetes of the young | 1 |
familial thoracic aortic aneurysm with livedo reticularis and iris flocculi | aortic aneurysm, familial thoracic 6; aat6 | 1 |
opdm2 | microvascular complications of diabetes, susceptibility to, 2 | 0 |
malignant prolactin producing tumor of pituitary gland | malignant pituitary prolactinoma | 1 |
familial dementia, neumann type | familial alzheimer-like prion disease | 0 |
slc35a3-cdg | congenital disorder of glycosylation due to pigg deficiency | 0 |
idh2 d-2-hydroxyglutaric aciduria | d2hga2 | 1 |
microcephaly autosomal dominant | microcephaly, autosomal dominant | 1 |
familial hyperaldosteronism type ii | familial adrenal adenoma | 1 |
anemia, congenital dyserythropoietic, type 4 | cda iv | 1 |
encephalopathy fatal infantile with mitochondrial respiratory chain defects | mitochondrial encephalomyopathy due to coxpd6 | 0 |
pancreatic duct cancer | pancreatic neoplasm (malignant pancreatic neoplasm) | 0 |
lmph3 | lsdmca3 | 0 |
autosomal dominant striatonigral degeneration | azorean disease | 1 |
dyslexia | prosopagnosia | 0 |
maternally-inherited mitochondrial myopathy | maternally-inherited mitochondrial myopathy | 1 |
charcot-marie-tooth disease, axonal, type 2f; cmt2f | charcot-marie-tooth disease type 2 caused by mutation in hspb1 | 1 |
npsr1 inherited susceptibility to asthma | asthma-related traits, susceptibility to, 3 | 0 |
malignant ciliary body melanoma | iris malignant melanoma | 0 |
hemochromatosis type 1 | classic hemochromatosis | 1 |
infiltrating carcinoma of the breast | infiltrating breast carcinoma | 1 |
abcc8 hyperinsulinemic hypoglycemia (disease) | familial hyperinsulinemic hypoglycemia | 0 |
seizures, benign familial infantile, 5; bfis5 | seizures, benign familial infantile, 6 | 0 |
anthracosis | brown lung | 0 |
developmental and epileptic encephalopathy, 75 | developmental and epileptic encephalopathy, 74 | 0 |
phyllodes tumor of the breast | cystosarcoma phylloides of the breast | 1 |
ebstein's anomaly of common atrioventricular valve | epibronchial right pulmonary vein syndrome | 0 |
myelodysplastic syndrome/neoplasm | unclassified mixed myelodysplastic/myeloproliferatic syndrome | 0 |
keratosis nigricans | keratosis follicularis | 0 |
prothrombin 20210g>a thrombophilia | prothrombin thrombophilia | 1 |
malignant neoplasm of base of tongue | malignant neoplasm of tongue | 1 |
epilepsy, juvenile myoclonic, susceptibility to, 9 | myoclonic epilepsy, juvenile, 1 | 0 |
adenoid cystic carcinoma of the lung | uterine cervix adenoid cystic carcinoma (adenoid cystic carcinoma of the cervix uteri) | 0 |
immunodeficiency with thymoma | thi (transient hypogammaglobulinemia of infancy) | 0 |
nevus fusculoceruleus ophthalmomaxillaris | giant congenital melanocytic nevus | 0 |
testicular non-seminomatous germ cell tumor | non-seminomatous germ cell tumor of testis | 1 |
branched-chain keto acid dehydrogenase kinase deficiency; bckdkd | ketoacidosis due to scot deficiency | 0 |
rear syndrome | townes-brocks-branchiootorenal-like syndrome | 1 |
systemic lupus erythematosus, vitiligo-related | familial systemic lupus erythematosus | 0 |
rp49 (retinitis pigmentosa 49) | retinitis pigmentosa 48 | 0 |
thyrotrophic adenoma | tsh-oma (TSH-secreting pituitary adenoma) | 1 |
lactic acidosis, chronic adult form | dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency | 0 |
mks7 (nphp3-related meckel-like syndrome) | meckel-like syndrome type 1 | 1 |
10q monosomy | 10q24 microduplication syndrome | 0 |
vaginal cancer (vaginal carcinoma) | mammalian vulva carcinoma | 0 |
cranium bifidum | cranial meningocele | 0 |
cerebrospinal rhinorrhea | cerebrospinal fluid leak, spontaneous | 0 |
grand-kaine-fulling syndrome | vasculopathy, retinal, with cerebral leukodystrophy | 1 |
dysplasia of nails with hypodontia | ectodermal dysplasia, 'pure' hair/nail type | 0 |
rare odontologic disease | rare systemic disease | 0 |
carrion disease | deerfly fever | 0 |
telomeric duplication 22q | distal duplication 22q | 1 |
triphalangeal thumbs and dislocation of patella | polydactyly of triphalangeal thumb | 0 |
placenta percreta | malignant placenta tumor | 0 |
thymoma, malignant (morphologic abnormality) | polygonal cell thymoma | 0 |
waaler-aarskog syndrome | waardenburg-shah syndrome (waardenburg syndrome type 4a) | 0 |
hhrrd | hypoparathyroidism-retardation-dysmorphism syndrome; hrd | 0 |
liver glycogen storage disease 0 | liver glycogen phosphorylase deficiency | 0 |
congenital bile acid synthesis defect type 1 | congenital short bowel syndrome 1 | 0 |
nervous system neoplasm (disease) | tumor of nervous system | 1 |
severe nonproliferative retinopathy | high risk non proliferative diabetic retinopathy | 1 |
colonic net | net of the colon | 1 |
vasculitides, eosinophilic granulomatous | allergic granulomatosis angiitis | 1 |
autosomal recessive complete congenital stationary night blindness | night blindness, congenital stationary, autosomal dominant type 2 | 0 |
spiradenoma, malignant | carcinoma, eccrine gland, malignant | 0 |
tumor of rathke's pouch | neoplasm of rathke's pouch | 1 |
familial hyperaldosteronism type iii | adrenal hyperplasia hypertensive form | 0 |
isolated glycerol kinase deficiency | glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 0 |
hyperprolinemia type 2 | hprt deficiency, partial | 0 |
ibd24 | inflammatory bowel disease 19; ibd19 | 0 |
rock fever | yellow fever | 0 |
cd79b autosomal agammaglobulinemia | bruton's type agammaglobulinemia | 0 |
ichthyosis with hypotrichosis, autosomal recessive | arci11 | 1 |
edc3 autosomal recessive non-syndromic intellectual disability | mrt50 | 1 |
autosomal dominant non-syndromic intellectual disability 41 | autosomal dominant non-syndromic intellectual disability 40 | 0 |
aipds | arias syndrome | 0 |
upd(21)pat | postaxial polydactyly type a | 0 |
choriocarcinoma of the adult central nervous system | choriocarcinoma of the pediatric cns | 0 |
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