All terms in DOID

Label Id Description
myxosarcoma DOID_4136
conjunctival cancer DOID_5467
abnormal scar formation SYMP_0020020
abnormal wound healing SYMP_0020021
biliary tract intraductal papillary mucinous neoplasm DOID_5469
biliary tract disease DOID_9741 [A hepatobiliary disease that is located_in the biliary tract.]
congenital disorder of glycosylation Ih DOID_0080560 [A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14.]
congenital disorder of glycosylation Ii DOID_0080561 [A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.]
bronchospasm SYMP_0020024 [A respiratory system and chest symptom that is characterized by constriction of the air passages of the lung (as in asthma) by spasmodic contraction of the bronchial muscles.]
caseation SYMP_0020025 [A respiratory system and chest symptom that is characterized by necrosis of tissue with conversion of damaged tissue into a soft cheesy substance.]
bone conduction hyperacusis SYMP_0020022 [An ear symptom - need proper definition - placeholder for xref.]
bone pain SYMP_0020023
chronic weight gain SYMP_0020017 [A weight gain that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both.]
polygenic disease DOID_0080577 [A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci.]
overweight SYMP_0020018 [A weight symptom that is characterized by being too heavy for one’s height. Excess body weight can come from fat, muscle, bone, and/or water retention. Being overweight does not always mean being obese.]
3-methylcrotonyl-CoA carboxylase 1 deficiency DOID_0080579 [A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.]
acute weight gain SYMP_0020016 [A weight gain that is characterized by a severe and sudden onset.]
congenital disorder of glycosylation Ix DOID_0080573 [A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23.]
congenital disorder of glycosylation Iy DOID_0080574 [A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28.]
postnasal drainage SYMP_0020019 [A nose symptom that is characterized by an an excessive secretion of mucous down the back of the throat.]