Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck	DOID_9216
obsolete Herpes simplex virus iridocyclitis	DOID_9214	[A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision.]
obsolete herpes zoster eyelid dermatitis	DOID_9217	[A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection.]
thiophenes	CHEBI_26961	[Compounds containing at least one thiophene ring.]
propionic acidemia	DOID_14701	[An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.]
branchiootorenal syndrome	DOID_14702	[A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.]
Trichophyton mentagrophytes	NCBITaxon_523103
Pfeiffer syndrome	DOID_14705	[An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.]
marginal zone B cell	CL_0000845
splenocyte	CL_2000074
susceptibility to idiopathic scoliosis 2	OMIM_607354
susceptibility to autism 8	OMIM_607373
FG syndrome	DOID_14711	[A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.]
centronuclear myopathy	DOID_14717	[A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.]
type I Ehlers-Danlos syndrome	DOID_14720
beta-ketothiolase deficiency	DOID_14723	[An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.]
autosomal dominant microcephaly	DOID_14725	[A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene.]
obsolete dominant cogenital severe sensorineural deafness	DOID_14727
Weaver syndrome	DOID_14731	[A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36.]
hereditary angioedema	DOID_14735