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 - congenital malformation",
"congenital anatomic abnormality",
"congenital defect",
"fetal malformation",
"congenital anomalies of fetus",
"congenital malformation",
"foetal malformation",
"congenital anomaly or birth defect"
] |
[
"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 malformation",
"congenital nervous system disorder",
"childhood cancer syndrome",
"childhood neoplasm (disease)",
"chromosome disorder",
"congenital metabolism disorder",
"disorder, chromosome abnormality",
"congenital vascular malformation",
"chromosomal disorders",
"disorder of heart development",
"chromosome abnormality disorder"
] |
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",
"early-onset generalized isolated dystonia",
"infantile epilepsy syndrome",
"gabra1 early infantile epileptic encephalopathy",
"epilepsy, idiopathic generalized, susceptibility to, 13",
"epilepsy, idiopathic generalized, susceptibility to, type 14",
"epilepsy, idiopathic generalized, susceptibility to, 10",
"gabrb3 early infantile epileptic encephalopathy",
"epileptic encephalopathy, infantile or early childhood",
"epilepsy syndrome of infancy",
"childhood-onset epilepsy syndrome",
"epileptic encephalopathy, early infantile",
"epilepsy, idiopathic generalized, susceptibility to, 5; eig5",
"early infantile epileptic encephalopathy with suppression-bursts",
"tonic-clonic epilepsy"
] |
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 or disorder",
"viral disorder",
"parasitic infectious disease",
"infections, respiratory tract",
"hospital infections",
"infection, cross",
"bacterial disorder",
"infections, hospital",
"zoonoses",
"mycosis"
] |
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",
"diabetes mellitis type i",
"type 1 diabetes mellitus",
"diabetic embryopathy",
"maturity onset diabetes of the young, type 1",
"non-insulin dependent diabetes",
"niddm (diabetes mellitus, noninsulin-dependent)",
"diabetic nephropathy",
"ins type 1 diabetes mellitus",
"diabetes mellitus, insulin-dependent, type 2",
"diabetes bronze",
"diabetes mellitus, insulin-dependent, 1"
] |
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 arteriovenous malformation",
"pulmonary agenesis",
"idiopathic dilatation of the pulmonary artery",
"persistent truncus arteriosus",
"abnormal origin of right or left pulmonary artery from the aorta",
"abnormal origin of the pulmonary artery",
"pulmonary arteriovenous malformation (disease)",
"persistent truncus arteriosus (persistent truncus arteriosus (disease))",
"aorta atresia",
"papa (postaxial polydactyly type a (disease))",
"hypoplastic right heart syndrome",
"aortic arch defects",
"pulmonary valve atresia with intact ventricular septum",
"isolated hypoplasia of the right ventricle",
"absent pulmonary valve syndrome"
] |
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 mucosa",
"e. coli infection",
"indeterminate colitis",
"ulcerative colitis",
"enteritis",
"crohn colitis",
"chemical colitis",
"gastroenteritis",
"inflammatory polyp of colon",
"infection, e. coli",
"regional enteritis"
] |
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",
"generalized convulsive status epilepticus",
"convulsion, concussive",
"reflex epilepsy",
"pediatric epilepsy syndrome",
"juvenile absence epilepsy",
"focal epilepsy",
"partial sensory epilepsy"
] |
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)",
"neoplastic disorder",
"neoplasm, malignant",
"low grade",
"grade ii",
"high grade glioma",
"gant (gastrointestinal stromal tumor)",
"moderately differentiated",
"sarcomatous glioblastoma",
"glioma",
"gbm (glioblastoma)",
"tumor grade 3, general grading system"
] |
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",
"glucoglycinuria",
"hypophosphatasia",
"hyperinsulinism due to glucokinase deficiency",
"insulin dependent diabetes",
"hyperglycerolemia",
"postprandial hypotension",
"hypocortisolemia",
"galactosemia",
"glycosuria, renal"
] |
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 ulcerative gingivostomatitis",
"oro-facial gangrene",
"acute uvulitis",
"leukoplakia of oral mucosa",
"acute necrotising ulcerative gingivostomatitis [ambiguous]",
"olp - oral lichen planus",
"glossitis areata exfoliativa",
"herpetic stomatitis",
"daintree ulcer",
"hand foot and mouth disease"
] |
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 (prostate neoplasm)",
"neoplasm of prostate gland"
] |
[
"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",
"penile tumor",
"neoplasm of the penis",
"sarcoma of prostate",
"benign prostate tumor",
"prostate fibroma",
"pancreas neoplasm (pancreatic neoplasm)",
"malignant neoplasm of the prostate",
"prostate gland fibroma",
"renal pelvis neoplasm"
] |
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",
"interventricular septum congenital heart malformation",
"urorectal septum malformation sequence",
"syndromic diaphragmatic or abdominal wall malformation",
"multiple synostoses syndrome",
"atrial septal defect",
"asmd (anterior segment dysgenesis)",
"symphalangism",
"interauricular septal defect",
"avcd (atrioventricular septal defect)",
"anterior segment mesenchymal dysgenesis"
] |
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 tumor"
] |
[
"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 carcinoma",
"malignant reproductive system neoplasm",
"carcinoma",
"metastatic malignant neoplasm",
"pre-malignant neoplasm",
"malignant melanoma",
"adenocarcinoma",
"malignant renal neoplasm",
"malignant pediatric tumor"
] |
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",
"interatrial septal defect"
] |
[
"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",
"congenital septal defect",
"atrial septal defect 1; asd1",
"atrial heart septal defect 3",
"sinus venosus asd",
"patent ductus arteriosus anomalies",
"endocardial cushion defect (atrioventricular septal defect)",
"atrial septal defect, secundum type",
"atrial defect and interatrial communication",
"atrial septal defect type 4",
"asd1 (atrial heart septal defect 1)",
"atrial heart septal defect 1"
] |
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 pediatric",
"smith-magenis syndrome; sms",
"mrams",
"sm (systemic mastocytosis)",
"ssc (systemic sclerosis)",
"multiple system atrophy",
"tumefactive multiple sclerosis",
"chronic progressive multiple sclerosis",
"multiple sclerosis variant"
] |
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 intraepithelial neoplasia)",
"intraepithelial neoplasia of the cervix",
"intraductal breast neoplasm",
"corneal intraepithelial neoplasm",
"squamous cell intraepithelial neoplasia",
"conjunctival intraepithelial neoplasia",
"neoplasms, cervical intraepithelial",
"stage 0 penile carcinoma in situ",
"penile carcinoma in situ",
"small intestinal intraepithelial neoplasia",
"prostate adenocarcinoma in situ",
"grade 3 prostatic intraepithelial neoplasia"
] |
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 cancer",
"crc (colorectal carcinoma)",
"malignant colonic tumor",
"tumor of colon",
"malignant large intestine tumor",
"colon adenocarcinoma",
"cancer of large bowel",
"malignant neoplasm of the large bowel",
"cancer of the intestine",
"cecum cancer",
"colonic tumor (colonic neoplasm)"
] |
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 disease (neoplastic disease or syndrome)",
"large cell carcinoma",
"lung carcinoma",
"melanoma (disease)",
"squamous carcinoma",
"squamous cell carcinoma (morphologic abnormality)",
"colorectal cancer",
"malignant skin tumor"
] |
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 storage disease, type vii",
"pfkm deficiency",
"glycogen storage disease 7",
"pfkm glycogen storage disease",
"glycogen storage disease caused by mutation in pfkm",
"gsd 7",
"tarui disease",
"glycogen storage disease type 7",
"gsd7 (glycogen storage disease vii)",
"gsd type vii",
"glycogenosis type 7",
"gsd due to muscle phosphofructokinase deficiency",
"glycogen storage disease type vii",
"glycogen storage disease due to muscle phosphofructokinase deficiency"
] |
[
"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, type 3",
"pkd3 (polycystic kidney disease 3 with or without polycystic liver disease)",
"polycystic kidney disease 3 with or without polycystic liver disease",
"polycystic kidney disease type 3",
"polycystic kidney disease type 1",
"pkhd1",
"polycystic kidney disease 1",
"polycystic kidney disease 3, autosomal dominant",
"focal keratosis palmoplantaris",
"arpkd",
"polycystic liver disease type 2",
"branched-chain keto acid dehydrogenase kinase deficiency; bckdkd",
"polycystic kidney disease type 2",
"polycystic kidney and hepatic disease 1 (autosomal recessive polycystic kidney disease)"
] |
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 infectious disease",
"enterocolitis",
"inflammatory disease",
"ulcerative colitis (disease)",
"gastrointestinal system mucosa inflammation",
"ibd7 (inflammatory bowel disease 7)",
"regional enteritis",
"inflammatory bowel disease 8; ibd8",
"irgm inflammatory bowel disease",
"inflammatory bowel disease 16; ibd16",
"inflammatory diarrhea"
] |
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",
"defect, congenital heart",
"congenital heart defects",
"heart-congenital defect",
"congenital heart defect"
] |
[
"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 with congenital heart disease",
"congenital cardiovascular anomaly",
"valvular heart disorder",
"deformity/defect, congenital",
"congenital anomalies of fetus",
"cardiovascular system development disease",
"diseases, pulmonary heart",
"valvular heart disease",
"disorder of heart",
"conotruncal heart malformations",
"heart disorder",
"congenital pericardium anomaly"
] |
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 (prostate neoplasm)",
"neoplasm of prostate gland"
] |
[
"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 prostate",
"prostate gland neuroendocrine tumor",
"benign prostate tumor",
"prostate gland benign neoplasm",
"adenocarcinoma of prostate",
"malignant prostate gland neoplasm",
"pancreas tumor",
"prostate disorder"
] |
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, cardiac",
"chronic kidney disease",
"esrd (end stage renal failure)",
"kidney disease or disorder",
"renal agenesis (disease)",
"renal disease",
"liver failure",
"end stage renal failure",
"hydronephrosis",
"kidney disease (impaired renal function disease)",
"renal sclerosis"
] |
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 white matter",
"corpus callosum agenesis-abnormal genitalia syndrome",
"congenital aortic valve atresia",
"aural atresia, congenital",
"amaurosis congenita",
"bone dysplasia corpus callosum agenesis",
"corpus callosum agenesis-neuronopathy syndrome",
"agenesis of corpus callosum, cardiac, ocular, and genital syndrome; acogs",
"agenesis of the superior vena cava",
"aural atresia, congenital; caa",
"anosmia, congenital",
"arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum",
"amusia, congenital"
] |
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",
"nephronophthisis 12",
"nephronophthisis (disease) caused by mutation in glis2",
"nephroses",
"nephronophthisis 9",
"nephronophthisis-like nephropathy 1; nphpl1",
"nephronophthisis type 2",
"nephronophthisis 11",
"nephronophthisis type 13",
"dcdc2 nephronophthisis (disease)",
"nephronophthisis 14",
"nephronophthisis type 19",
"syndrome, nephrotic"
] |
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 carcinoma",
"acquired prca",
"colloidal prostate adenocarcinoma",
"metastatic tumor",
"carcinoma ex pleomorphic adenoma (salivary gland carcinoma ex pleomorphic adenoma)",
"digital papillary carcinoma",
"advanced peritoneal malignant mesothelioma",
"primary peritoneal serous papillary carcinoma",
"solid tumor associated with an acquired peripheral neuropathy",
"sessile serrated polyposis cancer syndrome",
"primary src breast carcinoma",
"secondary macs"
] |
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",
"mct1 hyperinsulinism",
"ins type 1 diabetes mellitus",
"familial hyperinsulinemic hypoglycemia",
"hyperinsulinemic hypoglycemia, persistent",
"hyperinsulinemic hypoglycemia due to insulin receptor deficiency",
"hypersplenism",
"exercise-induced hyperinsulinemic hypoglycemia",
"hyperinsulinism, familial, with pancreatic nesidioblastosis",
"leanness",
"hyperlipemias",
"hyperinsulinemic hypoglycemia (disease)"
] |
hyperglycaemia
|
[
"hyperglycemia"
] |
[
"increased blood pressure",
"hyperpiesia",
"hypertensive disease",
"hypermetropia",
"glaucoma",
"renal glucosuria",
"hypertryptophanemia",
"htn (hypertensive disorder)",
"macroglobulinemia",
"hyperlipemia",
"hyperglycinuria (disease)",
"hypervalinemia",
"hypoglycaemia",
"hypertrichosis",
"d-glycericacidemia",
"hyperinsulinemic hypoglycemia (disease)",
"hypertension, gestational",
"blood glucose, low",
"hyperkinetic disorder",
"kidney hypertrophy"
] |
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 2",
"non-insulin-dependent diabetes mellitus",
"non-insulin dependent diabetes mellitus",
"diabetes mellitis type ii",
"adult onset diabetes",
"type ii diabetes mellitus"
] |
[
"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",
"maturity-onset diabetes of the young",
"maturity-onset diabetes of the young, type 3",
"insulinomatosis and diabetes mellitus",
"diabetes mellitus, noninsulin-dependent, 2",
"maturity onset diabetes of the young, type 4",
"diabetes mellitus mody type 3",
"maturity-onset diabetes of the young, type 2",
"noninsulin-dependent diabetes mellitus",
"type 3 maturity-onset diabetes of the young",
"maturity-onset diabetes of the young (disease)",
"diabetes mellitus, type 1"
] |
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 cystic kidney disease type 1",
"ckd - chronic kidney disease",
"cystic hamartomata of lung and kidney",
"juvenile nephropathic cystinosis",
"childhood multilocular cystic kidney neoplasm",
"multilocular renal cyst",
"ckd (chronic kidney disease)",
"cystinosis, nephropathic",
"childhood multilocular cystic kidney tumor",
"renal tubule disease",
"medullary cystic kidney"
] |
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",
"polycystic kidney disease, adult, type i",
"polycystic kidney disease, infantile, type i",
"polycystic kidney disease 4 with or without polycystic liver disease; pkd4",
"polycystic ovary",
"polycystic liver disease 2 with or without kidney cysts",
"nonsyndromic polycystic liver disease (disease)",
"familial pkd",
"adpkd",
"pkd3 (polycystic kidney disease 4)",
"polycystic liver disease 1 with or without kidney cysts",
"polycystic kidney disease type 3",
"polycystic kidney disease, infantile, type 1",
"polycystic liver disease 3 with or without kidney cysts",
"polycystic echinococcosis"
] |
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 lipodystrophy)",
"plin1-related familial partial lipodystrophy",
"genetic lipodystrophy (disease)",
"acquired generalized lipodystrophy",
"adiposodysgenesis",
"lipodystrophy cephalothoracic type",
"lipodystrophy, familial partial, type 1",
"diabetes, lipoatrophic",
"familial partial lipodystrophy, dunnigan type",
"pparg-related familial partial lipodystrophy",
"fpld (familial partial lipodystrophy)",
"diffuse lipomatosis",
"lipoatrophic diabetes",
"lipodystrophy, familial, of limbs and lower trunk",
"centrifugal lipodystrophy (subtype)"
] |
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 inversion",
"penis agenesis",
"hypospadias 3, autosomal; hysp3",
"penile agenesis",
"sexual impotence",
"testicular atrophy",
"anosmia (disease)",
"congenital scrotal absence",
"agenesis of the penis",
"congenital absence of penis",
"lower limb malformation-hypospadias syndrome"
] |
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",
"metastatic tumor",
"mt (cancer)",
"malignant epithelial neoplasm",
"neoplastic syndrome, hereditary",
"metastatic neoplasm",
"epithelial neoplasms, nos",
"pre-malignant neoplasm"
] |
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 disease",
"disease of 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 vagina",
"acoustic perceptual disorders",
"disorder of vision",
"disease of vestibulocochlear nerve",
"internal ear disease",
"internal ear disease or disorder",
"disorder of saliva-secreting gland",
"disorder of vestibulocochlear nerve",
"viral labyrinthitis",
"otogenic vertigo"
] |
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",
"arpkd",
"polycystic kidney disease, autosomal recessive; arpkd",
"autosomal recessive polycystic kidney"
] |
[
"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 kidney disease caused by mutation in pkd1",
"adp-ribose protein hydrolase deficiency",
"isolated autosomal dominant polycystic liver disease",
"polycystic kidney disease 2; pkd2",
"autosomal dominant polycystic kidney disease",
"isolated diffuse palmoplantar keratoderma, autosomal recessive",
"pdj (autosomal recessive juvenile parkinson disease 2)",
"autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature",
"familial arpa",
"autosomal recessive infantile nphp",
"adrenoleukodystrophy",
"polycystic kidney disease",
"apmr2",
"autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature",
"polycystic kidney disease, adult, type 3"
] |
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 syndrome",
"opitz-g syndrome, type 2 (Opitz G/BBB syndrome)",
"hypospadias-dysphagia syndrome (Opitz G/BBB syndrome)",
"opitz-frias syndrome (Opitz G/BBB syndrome)",
"hypertelorism-oesophageal abnormality-hypospadias syndrome",
"opitz gbbb syndrome",
"hypertelorism hypospadias syndrome",
"telecanthus with associated abnormalities (Opitz G/BBB syndrome)",
"bbb syndrome (Opitz G/BBB syndrome)",
"opitz syndrome (Opitz G/BBB syndrome)",
"g syndrome (Opitz G/BBB syndrome)"
] |
[
"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",
"ossification anomalies-psychomotor developmental delay syndrome",
"olmsted syndrome",
"autosomal dominant opitz g/bbb syndrome",
"opitz-g syndrome, type 1",
"joubert syndrome with orofaciodigital defect",
"osteosclerosis with ichthyosis and fractures",
"occipital pachygyria and polymicrogyria",
"oomd (female infertility due to zona pellucida defect)",
"osteopoikilosis-short stature-intellectual disability syndrome",
"freire maia-pinheiro-opitz syndrome",
"autosomal dominant opitz syndrome",
"smith lemli opitz syndrome",
"oligophrenin-1 syndrome"
] |
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",
"hypertriglyceridemia (disease)",
"remnant hyperlipidemia",
"familial hyperlipidemia",
"familial hyperlipemia",
"lipidoses",
"hl deficiency (hyperlipidemia due to hepatic triglyceride lipase deficiency)",
"familial type 3 hyperlipoproteinemia",
"familial hyperbetalipoproteinaemia",
"hyperlipoproteinemia type 5",
"familial type iv hyperlipoproteinemia"
] |
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 sclerosis 18; als18",
"amyotrophic lateral sclerosis 6, with or without frontotemporal dementia",
"frontotemporal dementia with amyotrophic lateral sclerosis",
"amyotrophic lateral sclerosis type 8",
"leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome; lemspad",
"amyotrophic lateral sclerosis, sporadic",
"oes (toriello-lacassie-droste syndrome)",
"amyotrophic lateral sclerosis type 5",
"amyotrophic lateral sclerosis, sporadic, included",
"als 4",
"amyotrophic lateral sclerosis type 16",
"als7 (amyotrophic lateral sclerosis type 7)",
"amyotrophic lateral sclerosis caused by mutation in tardbp",
"elschnig syndrome",
"amyotrophic lateral sclerosis 1, autosomal recessive"
] |
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 septic granulomatosis",
"otitis media, chronic/recurrent",
"cipo (chronic intestinal pseudoobstruction)",
"fop (myositis ossificans)",
"chronic nasopharyngitis",
"chronic pyelonephritis",
"secretory otitis media (serous otitis media)",
"chronic pericardial effusion (disease)",
"primary chronic pseudo-obstruction of colon",
"chronic tympanitis",
"chronic multifocal osteomyelitis"
] |
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",
"defect, congenital heart",
"congenital heart defects",
"heart-congenital defect",
"congenital heart defect"
] |
[
"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 ventricle disease",
"congenital cardiovascular abnormality",
"congenital cardiovascular anomaly",
"congenital anomaly of the great arteries",
"right hypoplastic heart syndrome",
"complete atrioventricular septal defect",
"disorder of cardiac ventricle",
"heart disease",
"coronary artery abnormality [ambiguous]",
"genetic cardiac anomaly",
"ventricular septal defects"
] |
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 ear",
"malignant tumor of middle ear",
"nasal cavity mucosa inflammation",
"malignant middle ear neoplasm",
"inner ear infection (infectious otitis interna)",
"inflammation of nasal cavity mucosa",
"acute tympanitis",
"otitis interna",
"mastoiditis (disease)",
"ear infection"
] |
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",
"cutaneous disorder",
"disease of cellular proliferation",
"anatomical system disease",
"psychosis",
"inflammation of anatomical structure",
"degenerative disease",
"diathesis",
"rheumatism"
] |
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 disorder",
"x-linked inherited disease",
"x-linked hereditary disease",
"genetic disease, x-linked",
"genetic diseases, x-chromosome linked",
"x-linked hereditary disorder",
"disease, x-linked",
"disease, x-linked genetic"
] |
[
"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 disability-epilepsy syndrome",
"x-linked non-specific intellectual disability",
"uniparental disomy of chromosome x",
"sex-linked disease",
"x-linked deafness",
"addison disease, x-linked",
"ataxia-deafness syndrome, x-linked",
"xq12-q13.3 duplication syndrome",
"chromosome xq duplication"
] |
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",
"papillary adenoma",
"non-secretory adenoma of pituitary gland",
"adenoma of thyroid gland",
"gi adenoma",
"adenoma of the prostate",
"adenoma - prostate",
"adenoma of thyroid",
"thyroid gland adenoma",
"adenoma of the adrenal cortex",
"adenoma of liver cells"
] |
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 cirrhosis",
"hepatoportal sclerosis",
"angioma of the liver",
"hepatic lipoma",
"lipoidosis",
"hepatitides, animal",
"hepatitides",
"hepatoencephalopathy"
] |
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, susceptibility to; gvhds",
"disease, graft-vs-host",
"diseases, graft-versus-host",
"graft-vs-host diseases",
"disease, homologous wasting",
"gvh (graft versus host disease)",
"graft-versus-host disease, resistance to",
"graft-vs-host disease",
"graft vs. host disease",
"gvhd (graft versus host disease)",
"runt disease",
"graft-versus-host disease, susceptibility to"
] |
[
"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 inflammatory and immunologic defect",
"allergic disease",
"hemophagocytic disorder",
"granulomatous dermatitis",
"type ii hypersensitivity reaction disease",
"progeroid syndrome",
"adjustment disease",
"progressive transformation of germinal centers",
"atopic state",
"immunological deficiency syndrome"
] |
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))",
"infectious otitis externa",
"septic peritonitis",
"secretory otitis media (serous otitis media)",
"opem",
"nonsuppurative otitis media",
"csom (chronic purulent otitis media)",
"chronic purulent otitis media",
"chronic suppurative otitis media",
"fibrotic adhesive otitis media",
"non-suppurative otitis media"
] |
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 ciliopathy due to mutation in bardet-biedl gene",
"bardet-biedl syndrome type 19",
"bardet-biedl syndrome 8; bbs8",
"bardet-biedl syndrome caused by mutation in bbs9",
"bardet-biedl syndrome 2; bbs2",
"bardet-biedl syndrome type 16",
"bardet-biedl syndrome caused by mutation in bbs12",
"bardet-biedl syndrome caused by mutation in mks1",
"birk-barel mental retardation dysmorphism syndrome",
"bardet-biedl syndrome type 14",
"bbs (bardet-biedl syndrome 2)"
] |
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 disorder",
"animal phobia",
"disorders, neurotic",
"attention deficit disorder",
"autoimmune disorder",
"somatization disorder",
"autoimmune disease or disorder",
"character disorder",
"somatoform disorder"
] |
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",
"connective and soft tissue tumor",
"malignant epithelial tumor",
"neoplastic polyp",
"reproductive neoplasm",
"neoplasm of the skin",
"neoplasm of the respiratory tract",
"neoplastic disease (neoplastic disease or syndrome)",
"skin neoplasms"
] |
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",
"gestational diabetes",
"noninsulin dependent diabetes",
"hyperproglucagonemia",
"g6p deficiency",
"glucosyltransferase 1 deficiency",
"disaccharide intolerance",
"insulin-dependent diabetes mellitus",
"type i diabetes mellitus",
"glucose transporter protein syndrome",
"glycogen debrancher deficiency",
"glucose-galactose malabsorption"
] |
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",
"hyperlipoproteinemia, type iii",
"hyperchylomicronemia",
"hypo-beta-lipoproteinemia",
"lipidemia",
"hyper-low-density-lipoproteinemia",
"mixed hyperlipoproteinemia",
"hyperlipemia combined fat and carbohydrate-induced",
"hyperlipidemia type 3",
"hyperbetalipoproteinemia",
"hyperlipoproteinemia type i"
] |
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 8; bbs8",
"bbs3 (bardet-biedl syndrome 3)",
"bbs15",
"bardet-biedl syndrome 20; bbs20",
"bardet-biedl syndrome 18; bbs18",
"bardet-biedl syndrome type 11",
"bent bone dysplasia syndrome; bbds",
"bardet-biedl syndrome type 2",
"bbs4 (bardet-biedl syndrome 4)",
"bbs12",
"brooks-wisniewski-brown syndrome",
"bardet-biedl syndrome type 6"
] |
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 - congenital malformation",
"congenital anatomic abnormality",
"congenital defect",
"fetal malformation",
"congenital anomalies of fetus",
"congenital malformation",
"foetal malformation",
"congenital anomaly or birth defect"
] |
[
"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, malformation of (congenital heart disease)",
"chromosomal anomaly",
"congenital nervous system disorder",
"congenital vascular malformation",
"chromosome disorder",
"congenital cystic adenomatoid malformation",
"congenital anomaly of cartilage",
"congenital anomaly of cartilage (cartilage development disorder)",
"congenital",
"congenital limb malformation",
"developmental defect during embryogenesis",
"coronary arteries congenital malformation"
] |
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 disease",
"otorhinolaryngological diseases",
"nasopharyngeal disorder",
"nonseasonal allergic rhinitis",
"inflammation of nasopharynx",
"atrophic rhinitis",
"bronchiolitis",
"rhinorrheas, cerebrospinal",
"disease, otorhinolaryngological",
"pollenosis",
"ear, nose and throat disorder"
] |
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",
"ureter disorder",
"urinary tract diseases",
"urological diseases",
"neoplasm of kidney",
"disorder of urinary system",
"intestine disease",
"disorder of the urinary system",
"hypertrophy of the kidney",
"disease or disorder of renal glomerulus"
] |
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",
"malignant neoplasm of the prostate",
"malignant neoplasm of prostate",
"malignant prostate neoplasm",
"prostatic cancer",
"malignant neoplasm of prostate gland",
"malignant tumor of prostate",
"tumor of the prostate",
"malignant prostate gland neoplasm"
] |
[
"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 with postaxial polydactyly",
"camptodactyly-arthropathy-coxa vara-pericarditis syndrome",
"cataract skeletal anomalies",
"peters anomaly-cataract syndrome",
"cap syndrome (craniosynostosis-anal anomalies-porokeratosis syndrome)",
"papillary serous adenocarcinoma",
"sessile serrated polyposis cancer syndrome",
"colorectal adenomatous polyposis",
"chops",
"macs (mast cell activation syndrome)",
"acps2"
] |
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 tumor"
] |
[
"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",
"malignant neoplasm (childhood malignant neoplasm)",
"oncologic complications",
"malignant epithelial neoplasm",
"malignant tumor of the skin",
"carcinoma, nos",
"malignant vascular neoplasm",
"neoplasm",
"pre-malignant neoplasm",
"malignant bone tumour",
"neoplasm (disease)"
] |
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",
"mixed hearing loss",
"auditory perceptual disorder",
"high frequency deafness",
"disease of cochlea",
"losses, mixed hearing",
"high frequency hearing loss",
"ototoxicity",
"hyperacusias",
"cochlear disease",
"noise induced hearing loss",
"disorders, auditory comprehension",
"conductive hearing loss"
] |
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 neoplasm",
"myelodysplastic syndrome, nos",
"myelodysplastic syndrome/neoplasm",
"mds (myelodysplastic syndrome)",
"myelodysplasia"
] |
[
"mds/mpn",
"childhood mds",
"autosomal dominant aplasia and myelodysplasia",
"chronic myeloproliferative disease",
"transient myeloproliferative disease",
"myeloproliferative neoplasms",
"myelodysplastic/myeloproliferative neoplasm",
"myelodysplastic myeloproliferative disease",
"pancytopenia-developmental delay syndrome",
"rcmd (refractory cytopenia with multilineage dysplasia)",
"myelodysplastic syndrome with excess blasts",
"mpn (myeloproliferative neoplasm)",
"bdmf (diaphyseal medullary stenosis-bone malignancy syndrome)",
"bone marrow disease or disorder",
"myelosclerosis with myeloid metaplasia",
"primary bone dysplasia with micromelia",
"mpd/mds",
"mds-eb",
"mdp syndrome",
"myelodysplastic/myeloproliferative disorder"
] |
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",
"otitis media with effusion (serous otitis media)",
"middle ear net",
"serous glue ear",
"bullous myringitis",
"otitis media (disease)",
"disease of tympanic membrane",
"mastoid process of temporal bone inflammation",
"petrositis",
"middle ear cholesterol granuloma"
] |
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",
"defect, congenital heart",
"congenital heart defects",
"heart-congenital defect",
"congenital heart defect"
] |
[
"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",
"congenital defect",
"heart diseases, pulmonary",
"heart/pericardial disorder",
"congenital defect/deformity",
"heart disease",
"congenital diaphragmatic hernia",
"congenital absence of the heart",
"congenital hydrocephalus",
"congenital hematological system disease",
"defect/deformity, congenital"
] |
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",
"atresia of nares",
"micropenis (penile agenesis)",
"bifid hallux",
"constriction band syndrome",
"rachischisis",
"bifid nose, autosomal dominant",
"nose agenesia"
] |
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, myeloid, malignant",
"malignant hematopoietic neoplasm (hematopoietic and lymphoid cell neoplasm)",
"malignant hematopoietic neoplasm",
"malignant hematologic neoplasm",
"bone marrow tumor",
"erythroid tumor",
"histiocytic disorder, malignant",
"hematopoietic and lymphoid system tumor",
"hematopoietic system tumor",
"therapy-related myeloid neoplasms",
"mature t-cell and nk-cell neoplasm",
"tumor of bone marrow"
] |
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 12",
"bardet-biedl syndrome type 3",
"bardet-biedl syndrome caused by mutation in lztfl1",
"bardet-biedl syndrome type 18",
"bbs12 bardet-biedl syndrome",
"bardet-biedl syndrome type 12",
"bardet-biedl syndrome 7; bbs7",
"retinal ciliopathy due to mutation in bardet-biedl gene",
"bardet-biedl syndrome 11",
"bardet-biedl syndrome type 16",
"lztfl1 bardet-biedl syndrome",
"bardet-biedl syndrome 21; bbs21"
] |
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 syndrome)",
"aortic malformation",
"cervical aortic arch",
"aorta atresia",
"atos (arterial thoracic outlet syndrome)",
"tac (persistent truncus arteriosus (disease))",
"rheumatic aortic regurgitation",
"aortic arch anomaly with peculiar facies and mental retardation",
"familial anomalous origin of right pulmonary artery",
"aortic valve atresia (disease)",
"autosomal recessive amelia",
"microtia aortic arch syndrome",
"aortic arch arteritis"
] |
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 postcricoid area",
"adenoid cystic carcinoma of prostate",
"mucinous adenocarcinoma of the prostate",
"malignant neoplasm of the choroid plexus",
"cap disease",
"primary peritoneal serous/papillary carcinoma",
"metastatic malignant neoplasm to the lymph nodes",
"papillary cystadenocarcinoma, nos (morphologic abnormality)",
"primary peritoneal carcinoma",
"malignant choroid plexus tumors",
"primary peritoneal carcinoma (disease)",
"papillary cystadenocarcinoma (morphologic abnormality)",
"malignant peritoneal mesothelioma, advanced"
] |
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, auditory processing",
"disease or disorder of ear",
"neurosensory deafness",
"hereditary auditory system disease",
"processing disorder, auditory",
"comprehension disorders, auditory",
"nonsyndromic deafness",
"cochlea disease or disorder",
"snhl (sensorineural hearing loss disorder)",
"ear disease",
"inherited auditory system disease",
"disorder of ear"
] |
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 of skin",
"chronic multifocal osteomyelitis",
"secretory otitis media",
"chronic otitis media",
"chronic mucocutaneous candidiasis (disease)",
"som (serous otitis media)",
"chronic arachnoiditis",
"otitis media, chronic/recurrent",
"progressive myositis ossificans",
"chronic recurrent multifocal osteomyelitis; crmo",
"chronic recurrent multifocal osteomyelitis, congenital"
] |
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",
"cavc-fallot tetralogy syndrome",
"asd coronary sinus",
"ecd (atrioventricular septal defect)",
"atrial septal defect sinus venosus",
"great vessels transposition",
"atrial heart septal defect",
"vsd with aortic insufficiency",
"discordant ventriculoarterial and atrioventricular connections",
"ventriculoarterial discordance with atrioventricular concordance",
"atrioventricular septal defect; avsd",
"patent ductus venosus",
"asd (atrial heart septal defect)",
"interventricular septum aneurysm"
] |
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",
"inflammatory disorder",
"infections, cross",
"digestive system infection",
"bacterial infection",
"skin infection",
"intoxication",
"viruses caused disease or disorder",
"infectious disease characteristic"
] |
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",
"malignant neoplasm of the prostate",
"malignant neoplasm of prostate",
"malignant prostate neoplasm",
"prostatic cancer",
"malignant neoplasm of prostate gland",
"malignant tumor of prostate",
"tumor of the prostate",
"malignant prostate gland neoplasm"
] |
[
"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 transitional cell carcinoma",
"prostate gland neoplasm",
"metastatic prostate carcinoma",
"cancer of pancreas (malignant pancreatic neoplasm)",
"carcinoma of pancreas",
"tumor of prostate",
"prostate gland carcinoma",
"adenocarcinoma of the prostate",
"carcinoma of penis",
"primary prostate urothelial carcinoma",
"malignant neoplasm of pancreas"
] |
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",
"neoplasm of bronchus",
"pleural tumor (pleural neoplasm)",
"cancer of respiratory system",
"tumor of lung hilus",
"lung cancer",
"lung hilus tumor",
"lung hilus neoplasm (disease)"
] |
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 heterotopia of brain",
"microform holoprosencephaly",
"holoprosencephaly 1; hpe1",
"apertura pyriformis with holoprosencephaly",
"gli2 holoprosencephaly",
"holoprosencephaly 2",
"hereditary porencephaly",
"band heterotopia",
"hpe4 (holoprosencephaly 4)",
"hpe1 (holoprosencephaly 1)",
"isolated oxycephaly"
] |
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)",
"squamous cell carcinoma of colon",
"colonic mucinous adenocarcinoma",
"colorectal (colon or rectal) cancer",
"intestinal type adenocarcinoma",
"malignant colonic neoplasm",
"large intestine carcinoma",
"cancer of colon",
"cancer of large bowel (colorectal carcinoma)",
"colorectal carcinoma"
] |
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, francois-neetens speckled or flecked",
"cerebellar-facial-dental syndrome",
"ntdfs",
"cfc syndrome (cardiofaciocutaneous syndrome)",
"francois-neetens speckled corneal dystrophy",
"bfns1",
"bfns, autosomal recessive",
"cardio-facial-cutaneous syndrome",
"cfcs (cardiofaciocutaneous syndrome 1)",
"finnish congenital nephrosis (congenital nephrotic syndrome, Finnish type)",
"fsnf (neurofibromatosis, familial spinal)",
"scn1a febrile seizures, familial"
] |
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 neuroepithelium",
"glandular cell epithelium neoplasm",
"neoplasm of urothelium",
"skin neoplasms",
"neoplasia",
"embryo neoplasm",
"neoplasm of skin",
"neoplasm of the esophagus",
"benign neoplasm of epithelium",
"squamous cell neoplasm",
"endometrium neoplasm (disease)"
] |
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",
"arpkd",
"polycystic kidney disease, autosomal recessive; arpkd",
"autosomal recessive polycystic kidney"
] |
[
"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 disease)",
"pkd3 (polycystic kidney disease 4)",
"parkinson disease, juvenile, autosomal recessive",
"polycystic kidney disease caused by mutation in dzip1l",
"proximal renal tubular acidosis, autosomal recessive",
"pho, autosomal recessive",
"autosomal recessive disease with focal palmoplantar keratoderma as a major feature",
"polycystic kidney disease 2",
"autosomal recessive pericentral pigmentary retinopathy",
"polycystic kidney disease, adult, type ii",
"potter type 3 polycystic kidney disease",
"polycystic kidney disease 1",
"polycystic kidneys, medullary type",
"disease, autosomal recessive",
"polycystic kidney disease",
"autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature"
] |
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 dwarfism",
"iridogoniodysgenesis",
"ood (oculootodental syndrome)",
"otopalatodigital spectrum disorder",
"oded syndrome (Feingold syndrome)",
"otopalatodigital syndrome",
"osteoglophonic dysplasia; ogd",
"opmd (oculopharyngeal muscular dystrophy)",
"oculootofacial dysplasia",
"odontoonychodermal dysplasia",
"orocraniodigital syndrome",
"oculomaxillofacial dysostosis"
] |
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)",
"acute myelogenous leukemias",
"acute myeloid leukemia nos",
"acute leukemia",
"smoldering leukemia",
"agnogenic myeloid metaplasia",
"chronic myelogenous leukemia (cml)",
"leukemia, lymphoblastic, malignant",
"myeloid metaplasia",
"acute myeloid leukemia not otherwise categorized"
] |
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 adenosquamous carcinoma",
"prostate disorder",
"prostate gland sarcoma",
"malignant tumor of prostate",
"malignant neoplasm of prostate",
"prostate carcinoma metastatic",
"prsc (prostate squamous cell carcinoma)",
"pancreatic cancer (malignant pancreatic neoplasm)",
"cancer of the penis",
"adenocarcinoma of the prostate",
"malignant prostate neoplasm",
"metastatic prostate cancer"
] |
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 storage disease, type vii",
"pfkm deficiency",
"glycogen storage disease 7",
"pfkm glycogen storage disease",
"glycogen storage disease caused by mutation in pfkm",
"gsd 7",
"tarui disease",
"glycogen storage disease type 7",
"gsd7 (glycogen storage disease vii)",
"gsd type vii",
"glycogenosis type 7",
"gsd due to muscle phosphofructokinase deficiency",
"glycogen storage disease type vii",
"glycogen storage disease due to muscle phosphofructokinase deficiency"
] |
[
"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 storage disease caused by mutation in phkb",
"phosphoenolpyruvate carboxykinase 2 deficiency",
"fructose-1,6-bisphosphatase deficiency; fbp1d",
"gsdx (glycogen storage disease due to phosphoglycerate mutase deficiency)",
"disorder of fructose metabolism",
"x-linked muscke glycogenosis",
"muscular phosphorylase kinase deficiency",
"phosphoglycerate kinase 1 deficiency",
"glycogenosis due to muscle phosphorylase kinase deficiency",
"phenylketonuria",
"pkk deficiency",
"sedoheptulokinase deficiency"
] |
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)",
"prostate adenosquamous carcinoma",
"cancer of the prostate",
"prostate adenoid cystic carcinoma",
"acinar adenocarcinoma of prostate",
"adenocarcinoma of pancreas",
"prostate neoplasm (prostate cancer)",
"penile adenocarcinoma (adenocarcinoma of penis)",
"apocrine adenocarcinoma (morphologic abnormality)",
"adenocarcinoma, papillary, malignant",
"prostate cancer (prostate carcinoma)",
"pancreas acinar cell adenocarcinoma"
] |
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",
"methylmalonic acidemia",
"disease of skeletal muscle tissue",
"rare inherited metabolic disorder",
"disorder of carbohydrate metabolic process",
"rare metabolic disease",
"myofibrillar myopathy",
"carbohydrate metabolism disease (acquired carbohydrate metabolism disease)",
"combined malonic and methylmalonic acidemia",
"intestine metabolic disease",
"disease or disorder of skeletal muscle tissue",
"acquired metabolic disease",
"inflammatory myopathy"
] |
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",
"defect, congenital heart",
"congenital heart defects",
"heart-congenital defect",
"congenital heart defect"
] |
[
"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)",
"hereditary cardiomyopathy",
"congenital coronary artery anomaly",
"heart/pericardial disease or disorder",
"congenital cardiomyopathy",
"heart disease, pulmonary",
"arteriosclerotic cardiovascular disease, nos",
"pah associated with congenital heart disease",
"congenital absence of the heart",
"congenital heart malformation",
"complete atrioventricular septal defect",
"disease of coronary artery",
"ischemic heart disease"
] |
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",
"dorv with subpulmonary vsd",
"right atrial isomerism (disease)",
"right atrial isomerism; rai",
"right hypoplastic heart syndrome",
"right isomerism",
"double-orifice mitral valve",
"transposition of the great arteries",
"encircling double aortic arch",
"right ventricular hypoplasia",
"dorv with atrioventricular septal defect, pulmonary stenosis, heterotaxy",
"double inlet left ventricle",
"right ventricular hypoplasia, isolated",
"arrhythmogenic right ventricular dysplasia type 2"
] |
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 tumor"
] |
[
"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 neoplasm",
"sarcoma",
"metastatic tumor",
"malignant lymphoma",
"tumor disease",
"metastatic malignant neoplasm",
"neoplasm (disease)",
"malignant pediatric neoplasm",
"malignant childhood neoplasm"
] |
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 hypoplasia-foot abnormalities syndrome",
"cerebrofrontofacial syndrome",
"craniosynostosis fontaine type",
"marfanoid craniosynostosis syndrome",
"syndrome of coronal craniosynostosis",
"craniofacial-deafness-hand syndrome",
"microcephaly-faciocardioskeletal syndrome",
"congenital filiform fusion of the eyelids with cleft palate and/or cleft lip",
"craniofacial dyssynostosis and short stature",
"cfz syndrome",
"cscf (cardiospondylocarpofacial syndrome)",
"craniofacial and skeletal defects",
"syndromic craniosynostosis"
] |
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)",
"rhabdomyoma",
"protein misfolding diseases",
"peritonitis",
"protein folding diseases",
"deficiencies, proteostasis",
"contracture",
"rinderpest",
"primate disease"
] |
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 (disease)",
"pancreatic insufficiency",
"akinetopsia",
"glucose: intolerance",
"hypophosphatemia",
"hypothyroidism",
"diazoxide-resistant hyperinsulinism",
"hyperinsulinemic hypoglycaemia",
"orthostatic hypotension (disease)",
"hydrargyria",
"hyperglycemia"
] |
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 (disease)",
"non-hodgkin's lymphoma",
"leukemia (leukemia (disease))",
"cns lymphoma",
"pediatric lymphoma",
"diffuse lymphoma",
"leukemia, malignant",
"body cavity-based lymphoma",
"plasmablastic lymphoma",
"lymphoma, lymphoblastic"
] |
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 primary ciliary dyskinesia",
"ciliary dyskinesia with transposition of ciliary microtubules",
"ciliary body disease",
"ccdc103 primary ciliary dyskinesia",
"tukel syndrome",
"disease or disorder of ciliary body",
"disease by cellular process disrupted",
"diseases, primate",
"primary disorder of connective tissue",
"ciliary discoordination, due to random ciliary orientation",
"protein defect of cystin transport",
"chlamydophila disease or disorder"
] |
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",
"malignant neoplasm of the prostate",
"malignant neoplasm of prostate",
"malignant prostate neoplasm",
"prostatic cancer",
"malignant neoplasm of prostate gland",
"malignant tumor of prostate",
"tumor of the prostate",
"malignant prostate gland neoplasm"
] |
[
"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 cystadenocarcinoma (morphologic abnormality)",
"caps (cryopyrin-associated periodic syndrome)",
"pancreatic colloid cystadencarcinoma",
"predisposing for prostate cancer",
"ptca (pituitary adenocarcinoma (disease))",
"cataract, anterior polar",
"colorectal adenomatous polyposis, autosomal recessive",
"peripapillary choriopathy",
"papillary adenocarcinoma (morphologic abnormality)",
"phace association",
"csc (central serous chorioretinopathy)"
] |
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 (chronic recurrent multifocal osteomyelitis (disease))",
"salpingo-oophoritis, chronic",
"tympanitis, chronic",
"chronic salpingo-oophoritis",
"multifocal osteomyelitis, chronic",
"ocmd (occult macular dystrophy)",
"chronic recurrent multifocal osteomyelitis, congenital",
"chronic polyradiculoneuritis",
"chronic pericardial effusion (disease)",
"chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis",
"chronic pyelonephritis"
] |
hyperglycaemic
|
[
"hyperglycemia"
] |
[
"d-glyceric acidemia",
"hyperaldosteronism",
"hyperlipidemia",
"glucose intolerance",
"hyperpituitarism",
"hypercorticism",
"hyperkinetic disorder",
"hypercementosis",
"hypertriglyceridemia (disease)",
"hypervalinemia",
"high blood pressure",
"blood pressure, high",
"overnutrition",
"glaucoma",
"glucagon secretion abnormality",
"macrostomia",
"hypercortisolism",
"increased blood pressure",
"diabetes",
"blood pressure, increased"
] |
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)",
"congenital anomaly",
"congenital limb malformation",
"abnormality, heart",
"cardiac septal defects",
"congenital anomaly of mitral valve",
"defect, congenital heart",
"congenital septal defect",
"heart defect",
"congenital ventricular septal anomaly",
"congenital defect",
"congenital anomaly of interventricular communication"
] |
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",
"laryngotracheoesophageal cleft",
"rathkes cleft cysts",
"alar cleft, isolated",
"lc (laryngotracheoesophageal cleft)",
"cleft-limb-heart malformation syndrome",
"cleft lip-alveolus-palate syndrome",
"colpocephaly",
"blepharochalasis - double lip",
"cleft soft palate"
] |
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 defect 3",
"nkx2-5 ventricular septal defect (disease)",
"endocardial cushion defect",
"psvs (patent ductus venosus)",
"defect, congenital heart",
"congenital septal defect of heart",
"ventricular septal defect 2; vsd2",
"partial atrioventricular canal defect",
"ecd (atrioventricular septal defect)",
"aortopulmonary septal defect",
"asd (atrial heart septal defect)",
"atrioventricular septal defect 4"
] |
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",
"polyposis",
"tetraploidy",
"adenomas",
"hypercalcemia disease",
"malignant growth",
"disease of cellular proliferation",
"urothelium hyperplasia"
] |
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