Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete liver fluke-related cholangiocarcinoma	DOID_5247
obsolete hilar cholangiocellular carcinoma	DOID_5246
obsolete ovarian dermoid cyst with sebaceous adenoma	DOID_6577
obsolete ovarian dermoid cyst with secondary sebaceous tumor	DOID_6578
obsolete parasite-related carcinoma	DOID_5248
Dengue virus 1	NCBITaxon_11053
split hand-foot malformation	DOID_0090020	[A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.]
spondylitis	DOID_6590
split hand-foot malformation 1	DOID_0090021	[A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.]
obsolete non-resectable cholangiocellular carcinoma	DOID_5250
split hand-foot malformation 1 with sensorineural hearing loss	DOID_0090024	[A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.]
split hand-foot malformation 3	DOID_0090025	[A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24.]
obsolete leiomyosarcoma recurrent	DOID_5252
split hand-foot malformation 5	DOID_0090022	[A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.]
breast apocrine carcinoma	DOID_6581	[A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders.]
inflammatory leiomyosarcoma	DOID_5251	[A leiomyosarcoma that is characterized by a prominent intristic inflammatory component.]
split hand-foot malformation 4	DOID_0090023	[A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 on chromosome 3q28.]
central nervous system leiomyosarcoma	DOID_5254	[A leiomyosarcoma that is located_in the central nervous system.]
familial isolated deficiency of vitamin E	DOID_0090028	[A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.]
vitamin metabolic disorder	DOID_0050718	[An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.]