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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