Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
tinea barbae	DOID_0050096	[A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules.]
progressive myoclonus epilepsy 1A	DOID_0111452	[An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in CSTB on chromosome 21q22.3.]
Axenfeld-Rieger syndrome type 2	DOID_0110121	[An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14.]
obsolete pulmonary sporotrichosis	DOID_0050095	[A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes.]
hemopoietic organ	UBERON_0004177
obsolete Microsporum audouinii tinea capitis	DOID_0050098	[An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii.]
progressive myoclonus epilepsy 9	DOID_0111450	[A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in LMNB2 on chromosome 19p13.3.]
ectothrix infectious disease	DOID_0050097	[A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft.]
obsolete Microsporum canis tinea capitis	DOID_0050099	[An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis.]
Bardet-Biedl syndrome 6	DOID_0110128	[A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12.]
Bardet-Biedl syndrome	DOID_1935	[A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.]
classic galactosemia	DOID_0111459	[A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALT on chromosome 9p13.3.]
Bardet-Biedl syndrome 7	DOID_0110129	[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.]
salmon food product	FOODON_00002220
Bardet-Biedl syndrome 4	DOID_0110126	[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24.]
STING-associated vasculopathy with onset in infancy	DOID_0111457	[An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in TMEM173 on chromosome 5q31.]
obsolete rhinocerebral mucormycosis	DOID_0050090	[An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures.]
Bardet-Biedl syndrome 5	DOID_0110127	[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31.]
galactose epimerase deficiency	DOID_0111458	[A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11.]
GRACILE syndrome	DOID_0111455	[A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has _material_basis_in homozygous or compound heterozygous mutation in BCS1L on chromosome 2q35.]