Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Hermansky-Pudlak syndrome 7	DOID_0060545	[A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.]
Hermansky-Pudlak syndrome 8	DOID_0060546	[A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.]
cavitated compound organ	UBERON_0000489
compound organ	UBERON_0003103
Hermansky-Pudlak syndrome 9	DOID_0060547	[A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.]
luminal breast carcinoma	DOID_0060548
breast carcinoma	DOID_3459	[A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.]
simple squamous epithelium	UBERON_0000487
unilaminar epithelium	UBERON_0000490
squamous epithelium	UBERON_0006914
Barber-Say syndrome	DOID_0060549	[A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.]
Hermansky-Pudlak syndrome 2	DOID_0060540	[A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.]
Hermansky-Pudlak syndrome 3	DOID_0060541	[A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.]
3MC syndrome 1	DOID_0060575	[A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.]
3MC syndrome	DOID_0060225	[A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.]
imidazolidinone	CHEBI_55370	[An imidazolidine containing one or more oxo groups.]
imidazolidines	CHEBI_38261
3MC syndrome 2	DOID_0060576	[A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.]
3MC syndrome 3	DOID_0060577	[A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.]
Noonan syndrome 1	DOID_0060578	[A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.]