Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Bardet-Biedl syndrome 2	DOID_0110124	[A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13.]
obsolete pulmonary paracoccidioidomycosis	DOID_0050092	[A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss.]
Bardet-Biedl syndrome 3	DOID_0110125	[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11.]
Kaufman oculocerebrofacial syndrome	DOID_0111456	[A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in UBE3B on chromosome 12q24.11.]
obsolete disseminated paracoccidioidomycosis	DOID_0050091	[A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis.]
2-aminoadipic 2-oxoadipic aciduria	DOID_0111453	[An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has _material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14.]
Axenfeld-Rieger syndrome type 3	DOID_0110122	[An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.]
obsolete lymphocutaneous sporotrichosis	DOID_0050094	[A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate.]
Bardet-Biedl syndrome 1	DOID_0110123	[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.]
SHORT syndrome	DOID_0111454	[A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has _material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13.]
obsolete disseminated sporotrichosis	DOID_0050093	[A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.]
Mycobacterium tuberculosis	NCBITaxon_1773
Mycobacterium tuberculosis complex	NCBITaxon_77643
optic atrophy 4	DOID_0111440	[An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3.]
obsolete entomophthoromycosis	DOID_0050085	[A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales.]
atrial heart septal defect 5	DOID_0110110	[An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.]
optic atrophy 1	DOID_0111441	[An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29.]
obsolete rhinotracheitis	DOID_0050084	[An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges.]
obsolete cutaneous mucormycosis	DOID_0050086	[An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle.]
obsolete pulmonary mucormycosis	DOID_0050089	[An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis.]