Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
3-methylglutaconic aciduria type 9	DOID_0070002	[A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13.]
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	DOID_0060672	[A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.]
frontotemporal dementia	DOID_9255	[A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.]
blastoma	DOID_0070003	[A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells.]
Peters anomaly	DOID_0060673	[A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.]
buccal salivary gland	UBERON_0012102
saliva-secreting gland	UBERON_0001044
Mansoniini	NCBITaxon_254792
Culicinae	NCBITaxon_43817
neuron projection bundle	UBERON_0000122
Seckel syndrome 7	DOID_0070011	[A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22.]
Seckel syndrome 5	DOID_0070012	[A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.]
face	UBERON_0001456
Seckel syndrome 4	DOID_0070010	[A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.]
cell layer	UBERON_0000119
lamina	UBERON_0000957
autosomal recessive dyskeratosis congenita 3	DOID_0070019	[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.]
respiratory tube	UBERON_0000117
tube	UBERON_0000025
autosomal recessive dyskeratosis congenita 2	DOID_0070017	[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.]