Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
holoprosencephaly 2	DOID_0110872	[A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21.]
esophageal leukoplakia	DOID_9021
holoprosencephaly 9	DOID_0110873	[A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.]
obsolete reticulosarcoma involving spleen	DOID_9020
congenital stationary night blindness 1A	DOID_0110870	[A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4.]
congenital stationary night blindness 2A	DOID_0110871	[A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.]
intrachromosomal	SO_0001510
chromosomal_variation_attribute	SO_0001509
interchromosomal	SO_0001511
obsolete convergence insufficiency or palsy	DOID_541
insertion_attribute	SO_0001512	[A quality of a chromosomal insertion,.]
larynx carcinoma in situ	DOID_9011	[An in situ carcinoma that is located_in the larynx.]
tandem	SO_0001513
direct	SO_0001514	[A quality of an insertion where the insert is not in a cytologically inverted orientation.]
obsolete Sezary's disease involving lymph nodes of axilla and upper limb	DOID_9017
inverted	SO_0001515	[A quality of an insertion where the insert is in a cytologically inverted orientation.]
holoprosencephaly 5	DOID_0110878	[A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32.]
free	SO_0001516	[The quality of a duplication where the new region exists independently of the original.]
holoprosencephaly 8	DOID_0110879	[A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13.]
inversion_attribute	SO_0001517