query stringlengths 2 45 | positives listlengths 1 23 | negatives listlengths 20 20 |
|---|---|---|
congenital disorder | [
"congenital abnormality",
"birth defect",
"physical disorder",
"fetal developmental abnormality",
"deformity/defect, congenital",
"defect/deformity, congenital",
"congenital deformity",
"congenital anomaly",
"congenital defect/deformity",
"scong",
"congenital anatomical abnormality",
"cm - con... | [
"congenital cardiovascular disorder",
"congenital heart disease",
"genetic disorder",
"congenital metabolic disorder",
"congenital abnormality of the nervous system",
"congenital hematological disorder",
"inherited disease",
"conditions affecting reproductive development",
"inborn",
"cerebral malf... |
idiopathic generalized epilepsy | [
"epilepsy, idiopathic generalized",
"generalised epilepsy",
"eig (epilepsy, idiopathic generalized)",
"idiopathic generalized epilepsy",
"generalized epilepsy",
"epilepsy, idiopathic generalized; eig"
] | [
"generalized epilepsy-paroxysmal dyskinesia syndrome",
"emg syndrome",
"childhood onset epileptic encephalopathy",
"epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 (EIG5)",
"epilepsy, idiopathic generalized, susceptibility to, 15; eig15",
"early onset absence epilepsy",
"earl... |
infections | [
"infectious disease",
"communicable disease",
"disease by infectious agent",
"infectious diseases and manifestations",
"transmissible disease",
"infection",
"clinical infection",
"infectious",
"infectious disorder",
"id (infectious disease)"
] | [
"influenza infection",
"bacterial infectious disease",
"zoonotic infections",
"sexually transmitted infection",
"viral infectious disease",
"respiratory tract infectious disease",
"viruses infection",
"disease of organism subdivision",
"viruses infectious disease",
"iatrogenic disease",
"disease... |
diabetes mellitus | [
"diabetes mellitus (disease)",
"diabetes",
"dm (diabetes mellitus (disease))",
"diabetes mellitus"
] | [
"glucose intolerance",
"non-insulin-dependent diabetes mellitus",
"maturity-onset diabetes of the young; mody",
"insulin-dependent diabetes mellitus 2",
"type 1 diabetes mellitus 2",
"diabetes mellitus, insulin-dependent, 2",
"niddm",
"diabetes mellitus mody type 6",
"diabetes mellitis type ii",
"... |
pulmonary artery hypoplasia | [
"pulmonary artery hypoplasia (disease)",
"pulmonary artery hypoplasia"
] | [
"pulmonary artery coming from patent ductus arteriosus",
"partial anomalous pulmonary venous return",
"pulmonary arterial hypertension (pulmonary hypertension, primary, 1)",
"poph (pulmonary arterial hypertension associated with portal hypertension)",
"pulmonary hypoplasia, primary",
"pulmonary arterioven... |
colonic inflammation | [
"colitis (disease)",
"colon inflammation",
"colitis",
"inflammation of colon"
] | [
"colon inflammatory polyp",
"enteritides",
"gastrointestinal system mucosa inflammation",
"e coli infection",
"undetermined colitis",
"inflammation of stomach",
"infection, escherichia coli",
"escherichia coli infections",
"inflammation of left colon",
"inflammation of gastrointestinal system muco... |
seizure disorder | [
"epilepsy",
"epileptic syndrome",
"epilepsy syndrome (epilepsy)",
"seizure disorder"
] | [
"eating seizures",
"migraine",
"visual epilepsy",
"vitamin b6-dependent seizures",
"epilepsy, reading",
"encephalitis",
"epilepsy, psychomotor",
"encephalopathy",
"reading seizures",
"epilepsy, traumatic",
"heart attack",
"post-traumatic seizure disorder",
"jacksonian epilepsy",
"generaliz... |
tumor grade | [
"tumor grading characteristic"
] | [
"general tumor grading characteristic",
"neoplastic disease or syndrome",
"malignant glioma",
"carcinoma, malignant",
"anaplastic malignant neoplasm",
"malignant growth",
"genetic soft tissue tumor",
"malignant neoplasm (disease)",
"mixed tumor, malignant, nos (morphologic abnormality)",
"neoplast... |
hypoglycaemia | [
"hypoglycemia",
"hypoglycaemia",
"blood glucose, low",
"low blood glucose",
"glucose, low blood"
] | [
"gluconeogenesis disorder",
"diazoxide-resistant hyperinsulinemic hypoglycemia",
"glycogen storage disease",
"glycogen storage disorder",
"hyperinsulinism",
"akinetopsia",
"glycogenosis",
"hypopituitarism",
"glucagonoma syndrome",
"hyperinsulinemia",
"post-surgical hypoinsulinemia",
"glucoglyc... |
aphtoïd ulcerations | [
"aphthous stomatitis",
"oral aphthous ulcer",
"aphtha",
"aphthous ulceration",
"canker sore (aphthous stomatitis)",
"oral aphthae",
"oral ulcer"
] | [
"aphemesthaesia",
"acute necrotizing ulcerative gingivitis",
"vesicular stomatitides",
"oral mucosa leukoplakia",
"oral mucositis",
"necrotizing ulcerative gingivitis",
"palmoplantar pustulosis",
"oral cavity hairy leukoplakia",
"uvulitis",
"gingivostomatitides, herpetic",
"acute necrotizing ulc... |
prostate tumor | [
"prostate neoplasm",
"prostate gland neoplasm (disease)",
"neoplasm of prostate",
"tumor of prostate gland",
"tumor of prostate",
"neoplasm of the prostate",
"prostate nodule",
"nodular prostate",
"prostate gland tumor",
"prostate gland neoplasm",
"prostate tumor",
"tumor of the prostate (pros... | [
"prostate adenocarcinoma",
"neoplasm of renal pelvis",
"tumor of the pancreas",
"prostatic neoplasm",
"malignant tumor of prostate",
"prostate gland neuroendocrine tumor",
"cancer of prostate gland",
"cancer of prostate",
"prostate gland cancer",
"penile neoplasms",
"neoplasm of the renal pelvis... |
septal malformations | [
"heart septal defect",
"septal defect",
"holes in the heart",
"cardiac septal defects",
"congenital septal defect of heart",
"congenital septal defect",
"septal defect nos"
] | [
"nose, anomalous shape of",
"sinus venosus atrial septal defects",
"situs inversus viscerum",
"aortopulmonary septal defect",
"nose and cavum anomaly",
"cleft nose",
"anterior segment dysgenesis",
"atelencephaly",
"partial atrioventricular septal defects",
"split spinal cord malformation",
"inte... |
malignant | [
"cancer",
"primary cancer",
"organ system cancer",
"ca (cancer)",
"cell type cancer",
"malignant neoplastic disease",
"malignancy",
"malignant neoplasm",
"mt (cancer)",
"malignant growth",
"neoplasm, malignant",
"neoplasm (disease), malignant",
"malignant neoplasm (disease)",
"malignant tu... | [
"metastatic tumor",
"tumor disease",
"metastatic carcinoma",
"malignant skin neoplasm",
"malignant cervical tumor",
"malignant lymphoma (category)",
"malignant epithelial neoplasm",
"carcinoma, in situ, malignant",
"malignant breast tumor",
"metastatic cancer",
"neoplasia",
"metatypical carcin... |
atrial septal defects | [
"atrial heart septal defect",
"interatrial communication",
"asd (atrial heart septal defect)",
"auricular septal defect",
"interauricular septal defect",
"congenital atrial septal defect",
"atrial septal defect",
"interauricular communication",
"atrioseptal defect",
"atrial septum defect",
"inte... | [
"atrial septal defect 2",
"atrial heart septal defect type 1",
"avcd (atrioventricular septal defect)",
"asd, coronary sinus type",
"atrial septal defect, ostium secundum type",
"av septal defect",
"atrioventricular septal defect (avsd 1)",
"atrial septal defect 3",
"atrial septal defect type 8",
... |
ms | [
"metabolic syndrome",
"metabolic syndrome x (metabolic syndrome)"
] | [
"sms (smith-magenis syndrome)",
"diffuse sclerosis",
"mss (marinesco-sjogren syndrome)",
"smoldering multiple myeloma",
"cerebral sclerosis",
"spastic monoplegia",
"ms3 (multiple sclerosis, susceptibility to, 3)",
"msm syndrome",
"mesom",
"relapsing-remitting ms",
"disseminated sclerosis",
"ms... |
prostatic intraepithelial neoplasia | [
"prostate intraepithelial neoplasia",
"pin (prostate intraepithelial neoplasia)",
"prostate intraepithelial neopl.",
"pin - prostatic intraepithelial neoplasia",
"prostate intraepithelial neoplasia (pin)",
"prostatic intraepithelial neoplasia"
] | [
"vin (vulvar intraepithelial neoplasia)",
"prostate gland carcinoma in situ",
"pancreatic ipmn",
"intraductal papillary breast neoplasm",
"in situ pulmonary adenocarcinoma",
"cornea intraepithelial neoplasia",
"vulvar intraepithelial neoplasia",
"intraductal papilloma",
"sin (squamous cell intraepit... |
colon cancer | [
"colon carcinoma",
"colon cancer",
"carcinoma of colon",
"carcinoma of the colon",
"colonic carcinoma"
] | [
"malignant tumor of the large bowel",
"intestinal cancer",
"cancer of colorectum",
"cancer of the large bowel (colorectal carcinoma)",
"malignant colonic neoplasm",
"adenocarcinoma of the colon",
"colon neoplasm",
"malignant neoplasm of the large intestine",
"tumor of the colon",
"large intestine ... |
carcinomas | [
"carcinoma",
"epithelioma malignant",
"malignant epithelial tumor",
"malignant epithelioma",
"epithelioma",
"other carcinoma",
"malignant epithelial neoplasm",
"epithelial carcinoma",
"carcinoma, malignant",
"carcinoma, nos"
] | [
"skin neoplasm, malignant",
"tumor disease",
"transitional carcinoma",
"malignant neoplasm",
"malignant skin neoplasm",
"gastrointestinal carcinoma",
"crc (colorectal carcinoma)",
"neoplastic syndrome",
"neoplastic disorder",
"neoplasia",
"secondary carcinoma",
"skin carcinoma",
"neoplastic ... |
pfkd | [
"glycogen storage disease vii",
"glycogenosis type vii",
"muscle phosphofructokinase deficiency",
"phosphofructokinase deficiency",
"glycogenosis due to muscle phosphofructokinase deficiency",
"glycogen storage disease vii; gsd7",
"gsd type 7",
"phosphofructokinase myopathy",
"gsdvii",
"glycogen s... | [
"polycystic kidney and hepatic disease 1",
"polycystic kidney disease 4",
"focal palmoplantar keratoderma",
"polycystic kidney disease 3, autosomal dominant; pkd3",
"polycystic kidney disease, type 3",
"disease with focal palmoplantar keratoderma as a major feature",
"polycystic kidney disease, adult, t... |
inflammatory bowel disease | [
"inflammatory bowel disease",
"autoimmune bowel disorder",
"ibd (inflammatory bowel disease)"
] | [
"colitis",
"inflammatory bowel disease type 5",
"inflammatory disorder",
"ibd6 (inflammatory bowel disease 6)",
"enteritides",
"inflammation of gastrointestinal system mucosa",
"ibd3 (inflammatory bowel disease 3)",
"colitis ulcerative",
"crohn disease (inflammatory bowel disease 1)",
"intestinal ... |
congenital heart diseases | [
"congenital heart disease",
"heart, malformation of (congenital heart disease)",
"heart abnormalities",
"abnormalities, heart",
"heart defect, congenital",
"heart malformation",
"congenital anomaly of heart",
"heart abnormality",
"abnormality, heart",
"heart defect",
"defects, congenital heart",... | [
"disease, pulmonary heart",
"inherited cardiac tumor",
"heart tumor of child",
"cvdd (cardiac valvular defect, developmental)",
"congenital non-syndromic heart malformation",
"coronary heart disease",
"chd (coronary heart disease)",
"congenital defect",
"pulmonary arterial hypertension associated wi... |
prostate tumors | [
"prostate neoplasm",
"prostate gland neoplasm (disease)",
"neoplasm of prostate",
"tumor of prostate gland",
"tumor of prostate",
"neoplasm of the prostate",
"prostate nodule",
"nodular prostate",
"prostate gland tumor",
"prostate gland neoplasm",
"prostate tumor",
"tumor of the prostate (pros... | [
"tumor of the pancreas",
"prostate adenoma",
"renal pelvis tumor",
"pancreas neoplasm (disease)",
"prostate gland adenocarcinoma",
"prostate adenocarcinoma",
"prostate cancer",
"penis tumor",
"prostate disease",
"neoplasm of penis",
"kidney pelvis tumor",
"pancreatic neoplasm",
"cancer of pr... |
renal failure | [
"kidney failure",
"renal failure syndrome",
"failure, renal",
"renal insufficiency",
"renal failure"
] | [
"multiple organ failure",
"acute respiratory failure (respiratory failure)",
"chronic renal failure disease",
"renal failure - chronic",
"kidney inflammation",
"disease of renal system",
"kidney failure, acute",
"multiple organ system failure",
"ckd - chronic kidney disease",
"insufficiency, cardi... |
agenesis of corpus callosum | [
"corpus callosum, agenesis of",
"acc (corpus callosum, agenesis of)",
"corpus callosum agenesis",
"agenesis of corpus callosum",
"agenesis of the corpus callosum",
"isolated corpus callosum agenesis"
] | [
"congenital absence of testes",
"alopecia, congenital",
"peripheral neuropathy associated with agenesis of the corpus callosum",
"agenesis of macula",
"corpus callosum agenesis polysyndactyly",
"aplasia cutis congenita dominant",
"corpus callosum dysgenesis hypopituitarism",
"agenesis of cerebral whit... |
nephronophthisis disease | [
"nephronophthisis (disease)",
"medullary cystic disease (nephronophthisis (disease))",
"nephronophthisis",
"medullary cystic kidney"
] | [
"nephronophthisis 7",
"nephronophthisis (disease) caused by mutation in anks6",
"nephronophthisis 3",
"nephronophthisis-like nephropathy type 1",
"nephronophthisis 13",
"nephrosis (nephrotic syndrome)",
"nephronophthisis (disease) caused by mutation in znf423",
"nephrotic syndrome, type 1; nphs1",
"... |
metastatic caps | [
"metastatic prostate carcinoma",
"prostate cancer metastatic",
"prostate carcinoma metastatic",
"metastatic prostate cancer"
] | [
"metastatic neoplasm, malignant",
"adenosquamous carcinoma of prostate",
"malignant pineal area neoplasm",
"ucp (undifferentiated pancreatic carcinoma)",
"prostate gland adenosquamous carcinoma",
"prostate adenoid cystic carcinoma",
"metastatic neoplasm",
"primary macs",
"metastatic squamous cell ca... |
hyperinsulinemia | [
"hyperinsulinism (disease)",
"hyperinsulinemia",
"hyperinsulinism"
] | [
"eihi (exercise-induced hyperinsulinism)",
"hyperinsulinemic hypoglycaemia",
"familial hyperinsulinism",
"insulinomas",
"hyperinsulinism due to glucokinase deficiency",
"insulin resistance, susceptibility to",
"hyperglycemia",
"diazoxide-resistant hyperinsulinemic hypoglycemia",
"hyperamylasemia",
... |
hyperglycaemia | [
"hyperglycemia"
] | [
"increased blood pressure",
"hyperpiesia",
"hypertensive disease",
"hypermetropia",
"glaucoma",
"renal glucosuria",
"hypertryptophanemia",
"htn (hypertensive disorder)",
"macroglobulinemia",
"hyperlipemia",
"hyperglycinuria (disease)",
"hypervalinemia",
"hypoglycaemia",
"hypertrichosis",
... |
type 2 diabetes mellitus | [
"type 2 diabetes mellitus",
"type 2 diabetes",
"t2dm - type 2 diabetes mellitus",
"niddm",
"adult-onset diabetes",
"non-insulin dependent diabetes",
"type ii diabetes",
"noninsulin dependent diabetes",
"type 2 diabetes mellitus non-insulin dependent",
"diabetes, type 2",
"diabetes mellitis type ... | [
"mitochondrial diabetes",
"diabetes mellitus, insulin-dependent; iddm",
"diabetes mellitus mody type 7",
"gestational diabetes mellitus",
"dm (diabetes mellitus (disease))",
"type 1 diabetes mellitus 3",
"juvenile diabetes",
"mody (maturity-onset diabetes of the young (disease))",
"type 1 diabetes",... |
cystic kidney diseases | [
"cystic kidney disease",
"renal cyst",
"kidney cyst"
] | [
"nephrosis, congenital",
"hydronephrosis",
"fibrocystic renal disease",
"renal dysplasia diffuse cystic",
"kidney disease or disorder",
"multilocular cyst of the kidney",
"mcdk (multicystic dysplastic kidney)",
"medullary cystic kidney disease 2; mckd2",
"pyeloureteritis cystica",
"medullary cysti... |
polycystic kidney disease | [
"polycystic kidney disease",
"pkd - polycystic kidney disease",
"fibrocystic renal disease"
] | [
"serpentine fibula-polycystic kidney syndrome",
"polycystic liver disease; pcld",
"polycystic kidney disease 4 with or without hepatic disease",
"polycystic kidney disease 1",
"pkd3 (polycystic kidney disease 3 with or without polycystic liver disease)",
"polycystic kidney disease, adult, type 1",
"poly... |
lipodystrophic | [
"lipodystrophy (disease)",
"lipodsystrophic syndrome",
"lipodsystrophic syndromes",
"lipodystrophy"
] | [
"dunnigan syndrome (familial partial lipodystrophy)",
"familial lipoprotein lipase deficiency (disorder) [ambiguous]",
"panniculitis-induced localized lipodystrophy",
"lipodystrophy, cephalothoracic",
"idiopathic localized lipodystrophy (subtype)",
"lawrence-seip syndrome (acquired generalized lipodystrop... |
hypospadias | [
"hypospadias (disease)",
"hypospadias familial",
"hypospadias",
"familial hypospadias"
] | [
"undescended testicles",
"hypotelorism cleft palate hypospadias",
"puborectalis syndrome",
"tight foreskin",
"congenital transposition of the penis",
"cryptorchidism",
"anaerobic balanitis",
"congenital absence of testes",
"atresia of urethra (disease)",
"anal atresia, hypospadias, and penoscrotal... |
neoplastic | [
"neoplasm (disease)",
"neoplasia",
"tumor",
"cell process disease",
"disease of cellular proliferation",
"tumor disease",
"neoplasm",
"neoplastic disease",
"neoplastic growth",
"other neoplasm"
] | [
"sarcoma",
"neoplastic syndrome",
"adenocarcinoma",
"secondary tumor",
"malignant metastatic neoplasm",
"tumor syndrome",
"pediatric tumor",
"skin neoplasms",
"primary cancer",
"familial neoplastic syndrome",
"cell type cancer",
"blood cancer",
"disease or disorder, non-neoplastic",
"metas... |
vestibular disorders | [
"vestibular disease",
"disorder of vestibular system",
"vestibular labyrinth disease or disorder",
"disease of vestibular labyrinth",
"disease or disorder of vestibular labyrinth",
"vestibular labyrinth disease",
"vertigo, vestibular disorder",
"disorder of vestibular labyrinth",
"vestibular system ... | [
"visual pathway disorder",
"central vestibular vertigo",
"visual field disorder",
"auditory perceptual disorders",
"disorders, auditory processing",
"middle ear disease",
"venereal disease (vd)",
"vestibulocochlear nerve disease or disorder",
"inner ear disorder",
"ent disease",
"disorder of vag... |
arpkd | [
"autosomal recessive polycystic kidney disease",
"pkhd1",
"polycystic kidney and hepatic disease 1 (autosomal recessive polycystic kidney disease)",
"polycystic kidney disease, infantile, type i",
"ar-pkd",
"polycystic kidney disease, autosomal recessive",
"polycystic kidney disease, infantile type",
... | [
"autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature",
"rta, proximal, autosomal recessive",
"pkd2 (polycystic kidney disease 2)",
"autosomal recessive infantile nephronophthisis",
"jp (autosomal recessive juvenile parkinson disease 2)",
"autosomal dominant polycystic kid... |
opitz syndrome | [
"opitz g/bbb syndrome",
"hypospadias-dysphagia, syndrome",
"opitz bbbg syndrome (Opitz G/BBB syndrome)",
"opitz-gbbb syndrome",
"hypertelorism with esophageal abnormality and hypospadias (Opitz G/BBB syndrome)",
"gbbb syndrome (Opitz G/BBB syndrome)",
"hypospadias-hypertelorism syndrome",
"opitz g syn... | [
"obs syndrome",
"telecanthus-hypospadias syndrome (X-linked Opitz G/BBB syndrome)",
"ados (autosomal dominant opitz g/bbb syndrome)",
"opitz c trigonocephaly",
"wiedemann oldigs oppermann syndrome",
"opsd (otopalatodigital syndrome spectrum disorder)",
"freire-maia pinheiro opitz syndrome",
"ossificat... |
hyperlipidaemia | [
"hyperlipidemia (disease)",
"hyperlipemias",
"lipemia",
"hyperlipidemia",
"lipidemias",
"lipemias",
"lipidemia",
"hyperlipemia (hyperlipidemia (disease))"
] | [
"hyperlipoproteinemia, type iv",
"lipoprotein deficiencies",
"carbohydrate inducible hyperlipemia",
"hyperlipoproteinemia type i",
"carbohydrate induced hyperlipemia",
"lipoproteinosis",
"hepatic lipidosis",
"hyperlipoproteinemia type iii",
"hyperlipidemia type v",
"hyperlipoproteinemia, type 1",
... |
alström syndrome | [
"alstrom syndrome",
"alstrom syndrome; alms",
"alstrom's syndrome",
"alms (alstrom syndrome)",
"alström syndrome",
"alss (alstrom syndrome)"
] | [
"amyotrophic lateral sclerosis, with or without frontotemporal dementia",
"optn amyotrophic lateral sclerosis",
"fals (amyotrophic lateral sclerosis type 1)",
"amyotrophic lateral sclerosis 6 with or without frontotemporal dementia",
"amyotrophic lateral sclerosis, chmp2b-related",
"amyotrophic lateral sc... |
chronic suppurative form of om | [
"chronic purulent otitis media",
"chronic suppurative otitis media",
"suppurative otitis media, chronic",
"csom (chronic purulent otitis media)"
] | [
"meningitis (disease), chronic",
"tympanitis, chronic",
"chronic inflammation of lacrimal passage",
"chronic inflammation of orbit",
"osteomyelitis, chronic multifocal",
"chronic canaliculitis",
"chronic orbital inflammation",
"progressive myositis ossificans",
"sinusitis, chronic",
"chronic septi... |
heart defects | [
"congenital heart disease",
"heart, malformation of (congenital heart disease)",
"heart abnormalities",
"abnormalities, heart",
"heart defect, congenital",
"heart malformation",
"congenital anomaly of heart",
"heart abnormality",
"abnormality, heart",
"heart defect",
"defects, congenital heart",... | [
"heart septal defects, ventricular",
"heart and brain malformation syndrome",
"defect",
"congenital diaphragmatic defect",
"chd (coronary heart disease)",
"cm - congenital malformation",
"disorder of heart development",
"heart defects and limb shortening",
"congenital septal defect",
"cardiac vent... |
inflammation of middle ear | [
"otitis media (disease)",
"inflammation of middle ear",
"otitis media",
"medial otitis",
"middle ear inflammation"
] | [
"adhesive middle ear disease",
"meningitis",
"inflammation of meninx",
"mastoid process of temporal bone inflammation",
"otitis",
"external ear infection",
"inner ear infection",
"infectious otitis media",
"benign neoplasm of middle ear",
"infective meningitis",
"disease or disorder of middle ea... |
pathological condition | [
"disease or disorder",
"condition",
"disease",
"other disease",
"disease or disorder, non-neoplastic",
"diseases",
"disorders",
"medical condition",
"disorder",
"diseases and disorders"
] | [
"cancer related problem/condition",
"disease susceptibility",
"chondropathy",
"rheumatic disease",
"gastropathy",
"inflammatory disease",
"pulmonary disorder",
"personality disorder",
"iatrogenic diseases",
"mood disorder",
"neoplastic disease (neoplastic disease or syndrome)",
"parasitosis",
... |
x-linked disorder | [
"x-linked disease",
"genetic diseases, x linked",
"x-linked genetic diseases",
"x-linked genetic disease",
"diseases, x-linked genetic",
"x-linked inherited disorder",
"genetic diseases, x chromosome linked",
"x linked genetic diseases",
"disease or disorder, x-linked",
"x-linked disease or disord... | [
"sex-linked hereditary disorder",
"triple x syndrome",
"marker x syndrome",
"mosaic monosomy type x",
"chromosome xq21 deletion syndrome",
"xxx syndrome",
"xq22.3 microdeletion syndrome",
"monosomy x",
"xq duplication",
"x-linked dominant disease",
"45, x syndrome",
"x-linked intellectual disa... |
adenomas | [
"adenoma",
"acinic cell adenoma",
"acinar cell adenoma (morphologic abnormality)",
"acinar cell adenoma",
"adenomas",
"adenoma, benign"
] | [
"nephrogenic adenoma",
"secreting pituitary adenoma",
"adenoma of the pancreas",
"non-secretory adenoma of pituitary",
"endocrine active pituitary adenoma",
"adamantinomatous tumor",
"pancreatic adenoma",
"non-secretory pituitary adenoma",
"thyroid adenoma",
"parathyroid gland adenoma",
"papilla... |
liver peliosis | [
"peliosis hepatis",
"hepatic peliosis"
] | [
"angioma of liver",
"hemangioma of liver",
"pelger huet anomaly",
"chronic passive congestion of liver",
"lipomatosis",
"lentiginosis profusa",
"pelger-huet anomaly",
"lipoid nephrosis",
"hepatic lymphoma",
"hepatic echinococcosis",
"lymphoma of liver",
"hepatic angiomyolipoma",
"portal cirr... |
gvhd | [
"graft versus host disease",
"diseases, graft-vs-host",
"homologous wasting disease",
"gvhds",
"graft-versus-host diseases",
"graft vs host disease",
"graft-versus-host disease",
"disease, graft-versus-host",
"disease, runt",
"graft-versus-host-disease",
"graft-versus-host disease, susceptibilit... | [
"mycotoxicosis",
"engraftment syndrome",
"immune reconstitution syndrome",
"type ii hypersensitivity disease",
"grisart-destree syndrome",
"immune deficiency disease",
"gvhd, chronic",
"immune reconstitution inflammatory syndrome",
"chronic graft versus host disease",
"good syndrome",
"combined ... |
suppurative om | [
"suppurative otitis media",
"otitis media with effusion - purulent",
"purulent otitis media"
] | [
"purulent endophthalmitis",
"adhesive otitis media",
"empyema",
"purulent labyrinthitis",
"ompp (sterile multifocal osteomyelitis with periostitis and pustulosis)",
"suppurative apical periodontitis",
"omphalitis",
"suppurative thyroiditis",
"oma syndrome",
"empyema (pleural empyema (disease))",
... |
bardet-biedl syndrome | [
"bardet-biedl syndrome",
"laurence-moon-biedl syndrome (Bardet-Biedl syndrome)",
"bbs (bardet-biedl syndrome)",
"laurence-moon syndrome (bardet-biedl syndrome)",
"laurence-moon-bardet-biedl syndrome"
] | [
"bardet-biedl syndrome 17",
"bardet-biedl syndrome 18; bbs18",
"bardet-biedl syndrome 10",
"bardet-biedl syndrome type 20",
"bardet-biedl syndrome type 3",
"bardet-biedl syndrome 3",
"bbs7 (bardet-biedl syndrome 7)",
"bardet-biedl syndrome type 15",
"bbs9 (bardet-biedl syndrome 9)",
"retinal cilio... |
anxiety disorders | [
"anxiety disorder",
"anxiety (anxiety disorder)",
"anxiety state"
] | [
"gad (generalized anxiety disorder)",
"atopic state",
"auditory comprehension disorders",
"anaphylaxis",
"atopy",
"fear of animals",
"autonomic central nervous system diseases",
"dissociative disorder",
"anxiety depression",
"psychogenic amnesia",
"acute stress disorder",
"allergic disease or ... |
tumors | [
"neoplasm (disease)",
"neoplasia",
"tumor",
"cell process disease",
"disease of cellular proliferation",
"tumor disease",
"neoplasm",
"neoplastic disease",
"neoplastic growth",
"other neoplasm"
] | [
"tumor of the respiratory tract",
"trophoblastic tumor (qualifier value)",
"neoplasm of skin",
"tumor of the pancreas",
"renal tumor",
"connective tissue neoplasms",
"sarcoma",
"respiratory tract neoplasm",
"neoplasm of zone of skin",
"skin tumor",
"bone tissue neoplasm",
"tumor of skin",
"c... |
glucose intolerant | [
"glucose intolerance",
"glucose: intolerance",
"glucose: malabsorption",
"glucose: [intolerance] or [malabsorption]",
"malabsorption of glucose"
] | [
"glut1 deficiency syndrome type 1",
"generalized glycogenosis",
"disaccharide intolerance without starch intolerance",
"glycogenosis type ia",
"glycogen storage disease id",
"non-insulin dependent diabetes",
"complex carbohydrate intolerance",
"glycogenosis",
"inborn glycogen storage disorder",
"g... |
hypertriglyceridaemia | [
"hypertriglyceridemia (disease)",
"hypertriglyceridemia"
] | [
"hypertension",
"type i hyperlipoproteinemia",
"familial hyperlipemia",
"familial fat-induced hypertriglyceridemia",
"lipidemias",
"hypobetalipoproteinemia",
"dysbetalipoproteinemia",
"hyperlipidemia due to hl deficiency",
"mixed hyperlipidaemia",
"hyperlipoproteinemia, type i",
"hyperlipoprotei... |
bbs | [
"bardet-biedl syndrome",
"laurence-moon-biedl syndrome (Bardet-Biedl syndrome)",
"bbs (bardet-biedl syndrome)",
"laurence-moon syndrome (bardet-biedl syndrome)",
"laurence-moon-bardet-biedl syndrome"
] | [
"bardet-biedl syndrome caused by mutation in bbs12",
"bardet-biedl syndrome caused by mutation in mks1",
"bardet-biedl syndrome type 3",
"bbs9 bardet-biedl syndrome",
"bardet-biedl syndrome type 17",
"bardet-biedl syndrome 4; bbs4",
"brss (brooke-spiegler syndrome)",
"brwns",
"bardet-biedl syndrome ... |
congenital malformations | [
"congenital abnormality",
"birth defect",
"physical disorder",
"fetal developmental abnormality",
"deformity/defect, congenital",
"defect/deformity, congenital",
"congenital deformity",
"congenital anomaly",
"congenital defect/deformity",
"scong",
"congenital anatomical abnormality",
"cm - con... | [
"congenital nevus of the skin",
"congenital anomaly of cartilage (abnormal development of cartilage)",
"chromosomal disorder",
"congenital anemia (disease)",
"congenital heart malformation",
"congenital anomaly of heart",
"disorder, chromosome abnormality",
"heart-congenital defect",
"heart, malform... |
rhinitis | [
"rhinitis",
"nasal cavity mucosa inflammation",
"runny nose",
"inflammation of nasal cavity mucosa"
] | [
"perennial allergic rhinitis (allergic rhinitis)",
"craniorhiny (rhiny)",
"disease of nasal cavity",
"disease of nasopharynx",
"perenial allergic rhinitis",
"nasopharyngeal disease",
"disorder of the nose",
"pollen allergic disease",
"chronic rhinosinusitis",
"allergic form of respiratory system d... |
kidney diseases | [
"kidney disease",
"disease of kidney (kidney disease)",
"disease or disorder of kidney",
"disorder of kidney",
"kidney disorder",
"kidney disease or disorder",
"renal disorder",
"renal disease (kidney disease)",
"nephropathy"
] | [
"hypertensive renal disease",
"diseases, urologic",
"ckd - chronic kidney disease",
"vascular disorder of kidney",
"kidney tumor",
"kidney inflammation",
"ren-associated kidney disease",
"kidney cancer, nos",
"disease of renal system",
"kidney neoplasm (disease)",
"diseases, intestinal",
"uret... |
caps | [
"prostate cancer",
"malignant prostate tumor",
"malignant tumor of the prostate",
"prostate gland cancer",
"ngp - new growth of prostate",
"hereditary prostate cancer",
"cancer of prostate gland",
"prostatic neoplasm",
"prostate neoplasm (prostate cancer)",
"prostate cancer, familial",
"malignan... | [
"corpus callosum agenesis-polysyndactyly syndrome",
"carney-stratakis dyad",
"acrp syndrome",
"papillary serous cystadenocarcinoma",
"capra-demarco syndrome",
"pancreatic and cerebellar agenesis; paca",
"chops syndrome",
"catastrophic aps",
"caplan syndrome",
"congenital scalp defects associated w... |
malignancies | [
"cancer",
"primary cancer",
"organ system cancer",
"ca (cancer)",
"cell type cancer",
"malignant neoplastic disease",
"malignancy",
"malignant neoplasm",
"mt (cancer)",
"malignant growth",
"neoplasm, malignant",
"neoplasm (disease), malignant",
"malignant neoplasm (disease)",
"malignant tu... | [
"neoplastic disease or syndrome",
"metastatic carcinoma",
"malignant neoplasm of reproductive system",
"metastatic malignant neoplasm",
"secondary neoplasm",
"ca - skin cancer",
"high grade malignant neoplasm",
"malignant breast neoplasm",
"malignant epithelial tumor",
"neoplastic polyp",
"malig... |
hearing loss disorders | [
"hearing loss disorder",
"loss of hearing",
"hypoacuses",
"loss, hearing",
"hearing loss",
"hearing impairment",
"hypoacusis",
"deafness"
] | [
"disorder of sensory perception of sound",
"sudden deafness",
"high-frequency hearing loss",
"sensorineural deafness (sensorineural hearing loss disorder)",
"disease or disorder of auditory system",
"nihl (noise induced hearing loss)",
"cochlea disease or disorder",
"sudden hearing loss disorder",
"... |
myelodysplastic syndrome | [
"myelodysplastic syndrome",
"myelodysplastic syndrome; mds",
"preleukemia",
"myelodysplastic syndromes",
"myelodysplastic syndrome, susceptibility to",
"smoldering leukemia",
"dysmyelopoietic syndrome",
"hematopoeitic - myelodysplastic syndrome (mds)",
"oligoblastic leukemia",
"myelodysplastic neo... | [
"mds/mpn",
"childhood mds",
"autosomal dominant aplasia and myelodysplasia",
"chronic myeloproliferative disease",
"transient myeloproliferative disease",
"myeloproliferative neoplasms",
"myelodysplastic/myeloproliferative neoplasm",
"myelodysplastic myeloproliferative disease",
"pancytopenia-develo... |
tympanosclerosis | [
"tympanosclerosis"
] | [
"polyp of middle ear",
"cholesteatoma",
"mastoid process of temporal boneitis",
"polyhydramnios (disease)",
"inflammation of petrous part of temporal bone",
"ear folding",
"otitis media",
"polyp of the middle ear",
"tracheomalacia",
"acute transudative otitis media",
"suppurative otitis media",
... |
congenital heart disease | [
"congenital heart disease",
"heart, malformation of (congenital heart disease)",
"heart abnormalities",
"abnormalities, heart",
"heart defect, congenital",
"heart malformation",
"congenital anomaly of heart",
"heart abnormality",
"abnormality, heart",
"heart defect",
"defects, congenital heart",... | [
"congenital anomaly",
"heart, malformation of",
"genetic cardiac anomaly",
"congenital malformation syndrome",
"chd (coronary artery disease)",
"congenital pericardium anomaly",
"diseases, pulmonary heart",
"heart disease, pulmonary",
"congenital left-sided heart lesions",
"heart valve disease",
... |
bifid nose | [
"bifid nose"
] | [
"supernumerary naris",
"nose and cavum anomaly",
"rhinitis sicca",
"facial cleft",
"bothriocephalosis",
"prosoposchisis",
"familial nasal acilia",
"imperforate nares",
"median facial cleft",
"cleft face",
"nasal alar collapse, bilateral",
"bifidity of the uvula",
"craniofacial duplication",
... |
myeloid tumors | [
"myeloid neoplasm",
"myeloma",
"myeloid tumor",
"myeloid malignancy"
] | [
"tmn (therapy-related myeloid neoplasm)",
"hematopoietic neoplasm (hematopoietic and lymphoid cell neoplasm)",
"myeloproliferative tumor",
"leukemia, malignant",
"tumor of hematopoietic and lymphoid tissues",
"leukemia myeloid",
"neoplasm of mast cells",
"malignant histiocytic disease",
"sarcoma, my... |
bardet-biedl | [
"bardet-biedl syndrome",
"laurence-moon-biedl syndrome (Bardet-Biedl syndrome)",
"bbs (bardet-biedl syndrome)",
"laurence-moon syndrome (bardet-biedl syndrome)",
"laurence-moon-bardet-biedl syndrome"
] | [
"bbs9 bardet-biedl syndrome",
"wdpcp bardet-biedl syndrome",
"bardet-biedl syndrome caused by mutation in bbs9",
"bardet-biedl syndrome type 13",
"bbs8 (bardet-biedl syndrome 8)",
"bardet-biedl syndrome 3; bbs3",
"bbs2 bardet-biedl syndrome",
"bbs1 (bardet-biedl syndrome 1)",
"bardet-biedl syndrome ... |
right-sided aortic arch | [
"right aortic arch (disease)",
"right aortic arch"
] | [
"dilatation of the right atrial appendage",
"aortic aneurysm, thoracic, with or without aortic dissection",
"pulmonary artery coming from the aorta",
"hypoplastic right-sided heart complex",
"first arch syndrome",
"rheumatic aortic insufficiency",
"double-outlet right ventricle",
"aaa (triple-a syndro... |
metastatic cap | [
"metastatic prostate carcinoma",
"prostate cancer metastatic",
"prostate carcinoma metastatic",
"metastatic prostate cancer"
] | [
"metastatic neoplasm",
"primary peritoneal cancer",
"malignant tumor of the postcricoid area",
"advanced peritoneal malignant mesothelioma",
"metastatic neoplasm, malignant",
"adenocarcinoma, papillary, malignant",
"carcinoma ex pleomorphic adenoma (morphologic abnormality)",
"malignant tumor of postc... |
hearing disorder | [
"hearing disorder",
"auditory alteration",
"disorder of hearing"
] | [
"perceptual disorders, acoustic",
"sensorineural hearing loss (sensorineural hearing loss disorder)",
"disorder of internal ear",
"perceptual disorder, acoustic",
"hyperacusias",
"disease or disorder of cochlea",
"processing disorders, auditory",
"conductive hearing loss disorder",
"disorders, audit... |
chronic suppurative om | [
"chronic purulent otitis media",
"chronic suppurative otitis media",
"suppurative otitis media, chronic",
"csom (chronic purulent otitis media)"
] | [
"chronic petrositis",
"otosalpingitis, chronic",
"chronic atticoantral disease",
"mucocutaneous ulceration, chronic",
"chronic tubotympanic suppurative otitis media",
"otomycosis, chronic",
"chronic adhesive otitis media",
"serous otitis media",
"chronic otomycosis",
"secondary catabolic mucinosis... |
vsd | [
"ventricular septal defect (disease)",
"heart septal defects, ventricular",
"ventricular septal defects",
"vsd (ventricular septal defect (disease))",
"ventricular septal defect",
"ventricular septal abnormality",
"interventricular septal defect"
] | [
"cardiac valvular defect, developmental; cvdd",
"ventricular septal defect type 1",
"common atrioventricular canal (atrioventricular septal defect)",
"dolv (double outlet left ventricle (disease))",
"ventricular septal defect 3",
"dorv with subpulmonary vsd",
"congenital ventricular septal anomaly",
"... |
infectious | [
"infectious disease",
"communicable disease",
"disease by infectious agent",
"infectious diseases and manifestations",
"transmissible disease",
"infection",
"clinical infection",
"infectious",
"infectious disorder",
"id (infectious disease)"
] | [
"zoonotic diseases",
"parasitic infectious disease",
"influenza",
"anatomical structure inflammation",
"zoonotic infectious diseases",
"infections, bacterial",
"parasitosis",
"disease, acute",
"infection, healthcare associated",
"zoonotic infection",
"viral disease",
"diseases, animal",
"inf... |
cancer of prostate | [
"prostate cancer",
"malignant prostate tumor",
"malignant tumor of the prostate",
"prostate gland cancer",
"ngp - new growth of prostate",
"hereditary prostate cancer",
"cancer of prostate gland",
"prostatic neoplasm",
"prostate neoplasm (prostate cancer)",
"prostate cancer, familial",
"malignan... | [
"prostate gland adenocarcinoma",
"cancer of renal pelvis",
"carcinoma of prostate gland",
"prostate tumor",
"transitional cell carcinoma of the prostate",
"pancreatic cancer",
"transitional cell carcinoma of prostate",
"pancreatic carcinoma",
"penile neoplasm (penile cancer)",
"prostate transition... |
lung tumor | [
"lung neoplasm",
"neoplasm of the lung",
"neoplasms, lung",
"neoplasm, pulmonary",
"neoplasm of lung",
"tumor of the lung (lung neoplasm)",
"lung (lung neoplasm)",
"neoplasms, pulmonary",
"lung neoplasms",
"tumor of lung",
"lung neoplasm (disease)",
"lung tumor",
"neoplasm, lung"
] | [
"lung carcinoma",
"lung adenoma",
"temporal lobe tumor",
"neoplasm of thorax",
"neoplasm of hilus of lung",
"tumor of the temporal lobe",
"tumor of bronchus",
"lung hilum tumor",
"lung benign neoplasm",
"bronchial neoplasm",
"tumor of pleura",
"bronchus tumor",
"tumor of the pleura",
"neop... |
holoprosencephaly | [
"holoprosencephaly",
"hpe (holoprosencephaly)",
"holoprosencephaly sequence"
] | [
"classic lissencephaly",
"holoprosencephaly type 2",
"semilobar holoprosencephaly",
"holoprosencephaly-polydactyly syndrome",
"holoprosencephaly polydactyly syndrome",
"lissencephaly",
"holoprosencephaly type 4",
"septopreoptic holoprosencephaly",
"holoprosencephaly, familial alobar",
"band hetero... |
colon adenocarcinoma | [
"colon adenocarcinoma",
"coad (colon adenocarcinoma)",
"adenocarcinoma of the colon",
"adenocarcinoma of colon",
"colonic adenocarcinoma",
"adenocarcinoma - colon"
] | [
"adenocarcinoma",
"adenoma of the colon",
"large bowel carcinoma",
"adenocarcinoma of large bowel",
"epidermoid carcinoma of colon",
"colonic carcinoma",
"adenocarcinoma - rectum",
"carcinoma of the colon",
"colon adenosquamous carcinoma",
"adenocarcinoma, malignant",
"crc (colorectal cancer)",
... |
cfns | [
"craniofrontonasal syndrome",
"cfnd (craniofrontonasal syndrome)",
"cfns (craniofrontonasal syndrome)",
"craniofrontonasal syndrome; cfns",
"craniofrontonasal dysplasia",
"craniofrontonasal dysostosis"
] | [
"acfs (acrocardiofacial syndrome)",
"congenital cutaneous neurilemmomatosis",
"nephrogenic systemic fibrosis",
"fraser-francois syndrome",
"congenital nephrotic syndrome - finnish type",
"cerebellofaciodental syndrome",
"cfz syndrome",
"craniofaciocardioskeletal syndrome",
"corneal dystrophy, franco... |
epithelial neoplasms | [
"epithelial neoplasm",
"epithelial neoplasms, nos",
"epithelioma (epithelial neoplasm)"
] | [
"fibroepithelial tumor",
"benign epithelial skin neoplasm",
"neoplasm of neuroepithelial tissue",
"tumor of endometrium (endometrium neoplasm)",
"neoplasm of the skin",
"benign skin epithelium tumor",
"endocrine neoplasm",
"embryonal neoplasm",
"epithelial skin neoplasm, benign",
"neoplasm of neur... |
autosomal recessive polycystic kidney disease | [
"autosomal recessive polycystic kidney disease",
"pkhd1",
"polycystic kidney and hepatic disease 1 (autosomal recessive polycystic kidney disease)",
"polycystic kidney disease, infantile, type i",
"ar-pkd",
"polycystic kidney disease, autosomal recessive",
"polycystic kidney disease, infantile type",
... | [
"autosomal recessive juvenile parkinson disease type 2",
"pkd1 (polycystic kidney disease 1)",
"polycystic kidney and hepatic disease 1 (polycystic kidney disease 4)",
"polycystic kidney disease 3 with or without polycystic liver disease",
"pkd3 (polycystic kidney disease 3 with or without polycystic liver ... |
oculodentodigital dysplasia | [
"oculodentodigital dysplasia",
"oddd (oculodentodigital dysplasia)",
"oculodentodigital syndrome",
"meyer-schwickerath syndrome",
"oculodentodigital dysplasia; oddd",
"odd syndrome",
"oddd syndrome",
"oculo-dento-digital dysplasia",
"oculodentoosseous dysplasia",
"oculo-dento-digital syndrome"
] | [
"nonsyndromic developmental defect of the eye",
"oculootodental syndrome",
"osteoglosphonic dysplasia",
"oculopalatoskeletal syndrome",
"glaucoma iridogoniodysgenesia",
"autosomal recessive oculodentodigital dysplasia",
"oculo digital syndrome",
"otomandibular dysplasia",
"oculopalatocerebral dwarfi... |
myeloid leukemia | [
"myeloid leukemia",
"leukemia myelogenous",
"myelogenous leukemia",
"non-lymphoblastic leukemia",
"leukemia granulocytic",
"myelocytic leukemia",
"leukemia, granulocytic, malignant",
"myeloid granulocytic leukemia",
"leukemia myeloid",
"non-lymphocytic leukemia"
] | [
"subacute myeloid leukemia",
"apml - acute promyelocytic leukemia",
"acute monoblastic leukemia",
"ph1-positive myeloid leukemia",
"aml (acute myeloid leukemia)",
"leukemia (disease)",
"acute lymphogenous leukemia",
"myeloid neoplasm",
"myeloid tumor",
"leukemia",
"acute myeloid leukemia (aml-m2... |
prostate carcinomas | [
"prostate carcinoma",
"prostate cancer, nos",
"cancer of prostate",
"cancer of the prostate",
"carcinoma of the prostate",
"prostate cancer (prostate carcinoma)",
"carcinoma of prostate gland",
"prostate gland carcinoma",
"carcinoma of prostate"
] | [
"prostate urothelial carcinoma",
"squamous cell carcinoma of the prostate",
"transitional cell carcinoma of the prostate",
"cancer of the pancreas",
"sarcoma of prostate gland",
"carcinoma, malignant",
"pancreas cancer (malignant pancreatic neoplasm)",
"malignant prostate tumor",
"prostate gland ade... |
phosphofructokinase disease | [
"glycogen storage disease vii",
"glycogenosis type vii",
"muscle phosphofructokinase deficiency",
"phosphofructokinase deficiency",
"glycogenosis due to muscle phosphofructokinase deficiency",
"glycogen storage disease vii; gsd7",
"gsd type 7",
"phosphofructokinase myopathy",
"gsdvii",
"glycogen s... | [
"phosphorylase kinase deficiency of heart",
"glycogen storage disease due to phk deficiency",
"phosphoglycerate kinase deficiency",
"pgk1 deficiency",
"d-glycerate kinase deficiency",
"pyruvate dehydrogenase complex deficiency disease",
"pepck 2 deficiency",
"pku (phenylketonuria)",
"glycogen storag... |
prostatic adenocarcinoma | [
"prostate adenocarcinoma",
"prad (prostate adenocarcinoma)",
"adenocarcinoma of prostate",
"prostate gland adenocarcinoma",
"adenocarcinoma of the prostate"
] | [
"malignant prostate neoplasm",
"acinar colloid prostate adenocarcinoma",
"prostatic cancer",
"adenocarcinoma",
"adenoid cystic carcinoma of prostate",
"prostate colloid adenocarcinoma",
"prostate squamous cell carcinoma",
"adenocarcinomas",
"papillary adenocarcinoma (morphologic abnormality)",
"pr... |
metabolic myopathies | [
"metabolic myopathy"
] | [
"mm (miyoshi myopathy)",
"developmental anomaly of metabolic origin",
"metabolic bone disease",
"myopathy with abnormal lipid metabolism",
"metabolic disease with skin involvement",
"nutritional or metabolic disease",
"disorder of glucose metabolism",
"disorder of skeletal muscle tissue",
"methylmal... |
chd | [
"congenital heart disease",
"heart, malformation of (congenital heart disease)",
"heart abnormalities",
"abnormalities, heart",
"heart defect, congenital",
"heart malformation",
"congenital anomaly of heart",
"heart abnormality",
"abnormality, heart",
"heart defect",
"defects, congenital heart",... | [
"congenital cardiovascular anomaly",
"disease or disorder of heart",
"familial cad",
"disease or disorder of coronary artery",
"heart/pericardial disorder",
"heart septal defect",
"coronary artery anomaly, congenital",
"hcad (hirschsprung disease, cardiac defects, and autonomic dysfunction)",
"hered... |
double outlet right ventricle | [
"double outlet right ventricle",
"double outlet right ventricle with subpulmonary ventricular septal defect (double outlet right ventricle)",
"dextrotransposition of aorta",
"taussig-bing syndrome or defect (double outlet right ventricle)",
"dorv (double outlet right ventricle)"
] | [
"double outlet right ventricle with non-committed subpulmonary ventricular septal defect",
"thoraco abdominal enteric duplication",
"dorv, fallot type",
"two-chambered heart",
"cor triatriatum dextrum",
"hypoplastic right heart syndrome",
"arrhythmogenic right ventricular dysplasia, familial, 2; arvd2",... |
malignant growth | [
"cancer",
"primary cancer",
"organ system cancer",
"ca (cancer)",
"cell type cancer",
"malignant neoplastic disease",
"malignancy",
"malignant neoplasm",
"mt (cancer)",
"malignant growth",
"neoplasm, malignant",
"neoplasm (disease), malignant",
"malignant neoplasm (disease)",
"malignant tu... | [
"neoplasia",
"melanoma (disease)",
"malignant metastatic neoplasm",
"malignant skin tumor",
"malignant digestive system neoplasm",
"leukemia, malignant",
"secondary cancer",
"malignant melanoma",
"carcinoma",
"malignant prostate tumor",
"malignant epithelial neoplasm",
"malignant lymph node ne... |
craniofrontonasal syndrome | [
"craniofrontonasal syndrome",
"cfnd (craniofrontonasal syndrome)",
"cfns (craniofrontonasal syndrome)",
"craniofrontonasal syndrome; cfns",
"craniofrontonasal dysplasia",
"craniofrontonasal dysostosis"
] | [
"craniosynostosis maroteaux fonfria type",
"syndrome associated with craniosynostosis",
"nasodigitoacoustic syndrome",
"cardiofaciocutaneous syndrome",
"cofs syndrome (cerebrooculofacioskeletal syndrome 1)",
"cranio-carpo-tarsal syndrome",
"craniofacioskeletal syndrome",
"craniosynostosis-midfacial hy... |
proteinurea | [
"proteinuria"
] | [
"peptidase deficiency",
"amino acidopathy",
"misfolding disorders, protein",
"blood protein disease",
"parachordoma",
"ureaplasma infection",
"lymphomatous",
"generalized glycogenosis",
"disorders, protein misfolding",
"phenylalaninemia",
"prion disease",
"tse (human prion disease)",
"rhabdo... |
hypoglycaemic | [
"hypoglycemia",
"hypoglycaemia",
"blood glucose, low",
"low blood glucose",
"glucose, low blood"
] | [
"ocular hypotension",
"hyperinsulinemia hypoglycemia",
"diabetes insipidus",
"hypotension, orthostatic",
"glucose: [intolerance] or [malabsorption]",
"insulin dependent diabetes",
"postprandial hypotension",
"diabetes mellitus (disease)",
"familial hyperinsulinemic hypoglycemia",
"hypotension (dis... |
lymphoma | [
"lymphoma",
"lymphoma, malignant",
"lymphomatous",
"lymphoma (hodgkin and non-hodgkin)",
"lymphoid cancer",
"lymphoma, nos",
"malignant lymphoma (lymphoma)",
"lymphoma (hodgkin's and non-hodgkin's)",
"mlym (lymphoma)"
] | [
"hematological tumors",
"precursor lymphoid neoplasm",
"lymphocytic and plasmacytic neoplasm",
"lymphocytic and plasma cell tumour",
"large-cell lymphomas",
"lymphoid and plasmacytic tumor",
"lymphoid tumor",
"lymphocytic leukemia",
"lymphoma, b-cell",
"blood (leukemia)",
"lymph node neoplasm (d... |
ciliopathies | [
"ciliopathy",
"ciliopathies"
] | [
"connective tissue disease",
"primary ciliary dyskinesia 1",
"pcd",
"ciliary dyskinesia, due to transposition of ciliary microtubules",
"zsd (peroxisome biogenesis disorder)",
"ccdc40 primary ciliary dyskinesia",
"disease of supramolecular complex",
"nephropathy-associated ciliopathy",
"pih1d3 prima... |
cap | [
"prostate cancer",
"malignant prostate tumor",
"malignant tumor of the prostate",
"prostate gland cancer",
"ngp - new growth of prostate",
"hereditary prostate cancer",
"cancer of prostate gland",
"prostatic neoplasm",
"prostate neoplasm (prostate cancer)",
"prostate cancer, familial",
"malignan... | [
"copan",
"ca body of pancreas",
"polyarteritis nodosa, childhood-onset",
"cpam (congenital pulmonary airway malformation)",
"fpc (classic familial adenomatous polyposis)",
"chronic periapical periodontitis",
"caplan's syndrome",
"copoa",
"childhood-onset polyarteritis nodosa",
"papillary cystadeno... |
chronic om | [
"chronic otitis media",
"otitis media (disease), chronic",
"chronic otitis media (disease)"
] | [
"occult macular dystrophy; ocmd",
"chronic obstructive pulmonary disease",
"chronic adenitis",
"chronic tympanitis",
"chronic orbital inflammation",
"chronic dacryoadenitis",
"chronic motor or vocal tic disorder",
"chronic secretory otitis media, serous",
"ethmoidal sinusitis - chronic",
"crmo (ch... |
hyperglycaemic | [
"hyperglycemia"
] | [
"d-glyceric acidemia",
"hyperaldosteronism",
"hyperlipidemia",
"glucose intolerance",
"hyperpituitarism",
"hypercorticism",
"hyperkinetic disorder",
"hypercementosis",
"hypertriglyceridemia (disease)",
"hypervalinemia",
"high blood pressure",
"blood pressure, high",
"overnutrition",
"glauc... |
congenital cardiac malformations | [
"congenital heart malformation",
"disorder of heart development",
"heart development disease",
"rare congenital non-syndromic heart malformation",
"congenital non-syndromic heart malformation"
] | [
"congenital anatomic abnormality",
"cleft limb heart malformation syndrome",
"congenital anomaly or birth defect",
"defects, congenital heart",
"congenital cardiovascular disorder",
"heart abnormalities",
"genetic cardiac anomaly",
"congenital myopathy",
"cthm (conotruncal heart malformations)",
"... |
cleft lip | [
"cleft lip (disease)",
"complete unilateral cleft lip",
"cleft lip",
"hare lip",
"cheiloschisis",
"labium leporinum",
"cleft lip, unilateral, complete"
] | [
"enlargement of lower lip",
"flp (cleft lip/palate)",
"congenital cleft larynx",
"cleft lip, congenital healed",
"isolated cleft lip",
"transverse facial cleft",
"laryngo-tracheo-esophageal cleft",
"cleft spine",
"soft cleft palate",
"thick lips and oral mucosa",
"cleft velum palatinum",
"lary... |
ventricular septal defect | [
"ventricular septal defect (disease)",
"heart septal defects, ventricular",
"ventricular septal defects",
"vsd (ventricular septal defect (disease))",
"ventricular septal defect",
"ventricular septal abnormality",
"interventricular septal defect"
] | [
"ventricular septal defect 1",
"avcd (atrioventricular septal defect)",
"av septal defect",
"ventricular septal defect 1; vsd1",
"atrial heart septal defect",
"pdv (patent ductus venosus)",
"cardiac valvular defect, developmental",
"congenital anomaly of ventricular septum",
"atrioventricular septal... |
hyperplasia | [
"hyperplasia",
"hyperplastic"
] | [
"gingival overgrowth",
"pathologic calcification",
"nodular regenerative hyperplasia",
"distomatosis",
"hyperplasia of parathyroid",
"macrocalcification",
"polyp",
"hypertension",
"neoplastic disease",
"degenerative disorder",
"hp (hyperplastic polyp)",
"gingival hypertrophy",
"hyperglycemia... |
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