Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
DNAseI_hypersensitive_site	SO_0000685	[DNA region representing open chromatin structure that is hypersensitive to digestion by DNase I.]
nuclease_hypersensitive_site	SO_0000322
biomaterial_region	SO_0001409	[A region which is intended for use in an experiment.]
focal nonepidermolytic palmoplantar keratoderma 1	DOID_0111709	[A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in KRT16 on chromosome 17q21.2.]
SNP	SO_0000694	[SNPs are single base pair positions in genomic DNA at which different sequence alternatives exist in normal individuals in some population(s), wherein the least frequent variant has an abundance of 1% or greater.]
Bothnian type palmoplantar keratoderma	DOID_0111707	[A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in AQP5 on chromosome 12q13.12.]
gene_with_dicistronic_transcript	SO_0000692	[A gene that encodes a dicistronic transcript.]
gene_with_polycistronic_transcript	SO_0000690	[A gene that encodes a polycistronic transcript.]
cleaved_initiator_methionine	SO_0000691	[The initiator methionine that has been cleaved from a mature polypeptide sequence.]
oculoectodermal syndrome	DOID_0111705	[An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in KRAS on chromosome 12p12.1.]
oblique facial clefting 1	DOID_0111706	[An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in SPECC1L on chromosome 22q11.23.]
familial hypertryptophanemia	DOID_0111703	[An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in TDO2 on chromosome 4q32.1.]
obsolete Hantavirus infectious disease	DOID_2880	[A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema.]
chromosome 2q37 deletion syndrome	DOID_0111704	[A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.]
obsolete Histoplasma capsulatum gastritis	DOID_0050225	[An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds.]
obsolete Cysts of iris, ciliary body and anterior chamber	DOID_2882
obsolete Helicobacter heilmannii infectious disease	DOID_0050224	[A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration.]
prostatic adenoma	DOID_2883	[A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.]
obsolete Vibrio cholerae O139 cholera	DOID_0050227	[A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain.]
obsolete Morganella morganii intestinal infectious disease	DOID_0050226	[An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii.]