Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Joubert syndrome 4	DOID_0110999	[A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.]
pulmonary immaturity	DOID_424
seasonal affective disorder	DOID_0060167	[A mental depression that involves presentation of depressive symptoms only during a specific season of the year.]
Kleine-Levin syndrome	DOID_0060165	[A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.]
pain disorder	DOID_0060164	[A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.]
body dysmorphic disorder	DOID_0060163	[A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).]
dentatorubral-pallidoluysian atrophy	DOID_0060162	[An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.]
Kennedy's disease	DOID_0060161	[A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.]
persistent Mullerian duct syndrome	DOID_0050791	[A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.]
fibular hypoplasia and complex brachydactyly	DOID_0050790	[A bone development disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.]
short QT syndrome	DOID_0050793	[A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.]
multiple cutaneous and mucosal venous malformations	DOID_0050792	[A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.]
cone dystrophy	DOID_0050795	[A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.]
multiple synostoses syndrome	DOID_0050794	[A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance.]
UST_match	SO_0001470	[A match against an UST sequence.]
RST_match	SO_0001471	[A match against an RST sequence.]
primer_match	SO_0001472	[A nucleotide match to a primer sequence.]
nucleotide_match	SO_0000347	[A match against a nucleotide sequence.]
miRNA_antiguide	SO_0001473	[A region of the pri miRNA that base pairs with the guide to form the hairpin.]
gene_rearranged_at_DNA_level	SO_0000138	[An epigenetically modified gene, rearranged at the DNA level.]