Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete Pilosebaceous hamartoma	DOID_2728
hereditary spastic paraplegia 26	DOID_0110777	[A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.]
hereditary spastic paraplegia 27	DOID_0110778	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1.]
hereditary spastic paraplegia 24	DOID_0110775	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14.]
hereditary spastic paraplegia 25	DOID_0110776	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1.]
hereditary spastic paraplegia 2	DOID_0110773	[A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2.]
hereditary spastic paraplegia 23	DOID_0110774	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.]
hereditary spastic paraplegia 18	DOID_0110771	[A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.]
hereditary spastic paraplegia 19	DOID_0110772	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q.]
hereditary spastic paraplegia 28	DOID_0110779	[A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.]
congenital adrenal insufficiency	DOID_0050546	[An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.]
familial medullary thyroid carcinoma	DOID_0050547	[A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance.]
thyroid gland medullary carcinoma	DOID_3973	[A thyroid gland carcinoma that has_material_basis_in parafollicular cells.]
acrodermatitis	DOID_2722	[A dermatitis that selectively affects the hands and feet.]
Saldino-Noonan syndrome	DOID_0050549	[A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase.]
L-2-hydroxyglutaric aciduria	DOID_0050574	[An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).]
Anophelinae	NCBITaxon_43816
Culicidae	NCBITaxon_7157
Sensenbrenner syndrome	DOID_0050577	[A syndrome that is characterized by microcephaly, bradydactyly, hypodontia, renal failure, cardiac defects, liver fibrosis and other gross physical abnormalities and has_material_basis_in recessive mutations in genes that control intraflagellar transport.]
Senior-Loken syndrome	DOID_0050576	[A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.]