Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
neurodegeneration with brain iron accumulation 2a	DOID_0110735	[A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.]
neurodegeneration with brain iron accumulation 2b	DOID_0110736	[A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.]
trichotillomania	DOID_0050587	[An impulse control disorder that involves the uncontrollable plucking of ones hair.]
bone carcinoma	DOID_2762	[A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.]
ethmoid sinus squamous cell carcinoma	DOID_2763	[A squamous cell carcinoma that is located_in the ethmoid sinus.]
ethmoid sinus cancer	DOID_1363
ethmoid sinus	UBERON_0002453
compartment syndrome	DOID_682
ethmoid sinus adenoid cystic carcinoma	DOID_2764
pyuria	DOID_1439
ethmoid sinus adenocarcinoma	DOID_2766	[An ethmoid sinus cancer that derives from epithelial cells of glandular origin.]
Hajdu-Cheney syndrome	DOID_2736	[A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12.]
obsolete agalactia	DOID_1402
obsolete Witkop-Von Sallmann disease	DOID_2737
pseudoxanthoma elasticum	DOID_2738	[A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.]
Gilbert syndrome	DOID_2739	[A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.]
hereditary spastic paraplegia 13	DOID_0110766	[A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 on chromosome 2q33.]
hereditary spastic paraplegia 14	DOID_0110767	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28.]
hereditary spastic paraplegia 11	DOID_0110764	[A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.]
hereditary spastic paraplegia 12	DOID_0110765	[A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13.]