Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
endo-epithelium	UBERON_0005911
Oguchi disease-1	DOID_0110712	[A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.]
Abnormality of lower limb bone	HP_0040069
cyanelle_sequence	SO_0000746
Dothideomycetidae	NCBITaxon_451867
hypotrichosis 13	DOID_0110710	[A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT71 on chromosome 12q13.13.]
transient hypogammaglobulinemia	DOID_625
chromoplast_sequence	SO_0000744
apicoplast_sequence	SO_0000743
maxicircle	SO_0000742	[A maxicircle is a replicon, part of a kinetoplast, that contains open reading frames and replicates via a rolling circle method.]
kinetoplast	SO_0000741	[A kinetoplast is an interlocked network of thousands of minicircles and tens of maxicircles, located near the base of the flagellum of some protozoan species.]
obsolete congenital disorder of natural immunity	DOID_629
Warburg micro syndrome 4	DOID_0110719	[A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13.]
Warburg micro syndrome	DOID_0060237	[A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.]
amplification_origin	SO_0000750	[An origin_of_replication that is used for the amplification of a chromosomal nucleic acid sequence.]
Warburg micro syndrome 2	DOID_0110717	[A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.]
Warburg micro syndrome 3	DOID_0110718	[A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12.]
congenital stationary night blindness autosomal dominant 3	DOID_0110715	[A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21.]
transient hypogammaglobulinemia of infancy	DOID_624
duct of male reproductive system	UBERON_0005904