Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
mitochondrial metabolism disease	DOID_700	[An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.]
mitochondrial complex II deficiency	DOID_0060537	[A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.]
structural_variant	SO_0001537	[A sequence variant that changes one or more sequence features.]
purpura fulminans	DOID_0060538	[A purpura characterized blood spots, bruising and discolouration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leads to skin necrosis and disseminated intravascular coagulation. It is often fatal.]
purpura	DOID_3326
transient arthritis	DOID_2092
arthropathy	DOID_381	[A bone disease that is located_in the joint.]
vulvar melanoma	DOID_2093	[A vulva cancer that has_material_basis in melanocytes.]
vulva cancer	DOID_1245	[A female reproductive organ cancer that is located_in the vulva.]
obsolete vulvar sweat gland cancer	DOID_2094
sweat gland cancer	DOID_2095
sweat gland disease	DOID_1383	[A skin disease located_in the sweat glands.]
skin cancer	DOID_4159	[An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.]
vulvar sarcoma	DOID_2096	[A vulva cancer that has_material_basis in connective tissue.]
vulval Paget's disease	DOID_2097	[A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features.]
vulva adenocarcinoma	DOID_2098	[A vulva carcinoma that derives_from epithelial cells of glandular origin.]
vulva carcinoma	DOID_1294	[A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.]
mollusc allergy	DOID_0060523	[A shellfish allergy triggered by Mollusca.]
snail food product	FOODON_00002244
obsolete extramammary Paget's disease	DOID_2099