Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
congenital disorder of glycosylation Ik	DOID_0080563	[A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.]
congenital disorder of glycosylation Il	DOID_0080564	[A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.]
congenital disorder of glycosylation Im	DOID_0080565	[A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.]
obsolete mixed endodermal sinus neoplasm and teratoma with seminoma of the testis	DOID_6792
obsolete primary Mycoplasma infectious disease	DOID_5461
obsolete contagious pleuropneumonia	DOID_5460	[A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides).]
cochlear disease	DOID_5463
obsolete African swine fever	DOID_5462	[A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia.]
erythrasma	DOID_4131	[A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum.]
myxosarcoma	DOID_4136
conjunctival cancer	DOID_5467
biliary tract disease	DOID_9741
biliary tract intraductal papillary mucinous neoplasm	DOID_5469
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.]
polygenic disease	DOID_0080577	[A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci.]
digenic disease	DOID_0080578	[A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.]
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.]
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.]