Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
drug psychosis	DOID_1742
obsolete drug-induced psychotic disease with delusion	DOID_1741
xanthinuria	DOID_0060236	[A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.]
carnitine palmitoyltransferase II deficiency	DOID_0060235	[A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.]
Carpenter syndrome	DOID_0060234	[An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.]
virtual_sequence	SO_0000499	[A continuous piece of sequence similar to the 'virtual contig' concept of the Ensembl database.]
five_prime_D_spacer	SO_0000498	[12 or 23 nucleotide spacer between the 5' D-heptamer (SO:0000496) and 5' D-nonamer (SO:0000497) of a 5' D-recombination signal sequence (SO:0000556) of an immunoglobulin/T-cell receptor gene.]
obsolete malignant olfactory nerve tumor	DOID_370
branchiootic syndrome	DOID_0060232	[A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.]
Bruck syndrome	DOID_0060231	[A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.]
basal ganglia calcification	DOID_0060230	[A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.]
conjunctival squamous cell carcinoma	DOID_1748	[A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane.]
obsolete infant nutrition disorder	DOID_373
extracranial neuroblastoma	DOID_371
Baraitser-Winter syndrome	DOID_0060229	[A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.]
mitral valve stenosis	DOID_1754	[A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.]
intracranial berry aneurysm	DOID_0060228	[An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.]
Adams-Oliver syndrome	DOID_0060227	[A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.]
acrofrontofacionasal dysostosis	DOID_0060226	[A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.]
malignant conjunctival melanoma	DOID_1751