Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete simple type schizophrenia chronic state	DOID_13682
amelogenesis imperfecta type 1B	DOID_0110052	[An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.]
autosomal dominant keratitis	DOID_0111383	[A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13.]
obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis	DOID_11020
obsolete simple type schizophrenia in remission	DOID_13681
amelogenesis imperfecta type 4	DOID_0110053	[An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene.]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2	DOID_0111384	[An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2.]
obsolete simple type schizophrenia subchronic state with acute exacerbation	DOID_13680
IVIC syndrome	DOID_0111381	[A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in SALL4 on chromosome 20q13.2.]
Alzheimer's disease 18	DOID_0110050	[An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21.]
ischiocoxopodopatellar syndrome	DOID_0111382	[A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in TBX4 on chromosome 17q23.2.]
Alzheimer's disease 19	DOID_0110051	[An Alzheimer's disease that is characterized by associated variants of the gene PLD3.]
solitary median maxillary central incisor	DOID_0111380	[A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3.]
pinguecula	DOID_11029
endocrine exophthalmos	DOID_12359
obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis	DOID_11027
cerebral artery	UBERON_0004449
prostate calculus	DOID_13689
pseudopterygium	DOID_11028
patulous eustachian tube	DOID_12358	[A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.]