Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
autosomal recessive osteopetrosis 1	DOID_0110942	[An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.]
autosomal recessive osteopetrosis 2	DOID_0110943	[An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.]
Scleroderma	HP_0100324	[A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.]
autosomal recessive osteopetrosis 8	DOID_0110940	[An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.]
autosomal recessive osteopetrosis 3	DOID_0110941	[An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.]
methylmalonic aciduria and homocystinuria type cblF	DOID_0050717	[A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.]
obsolete bovine tuberculosis	DOID_411
methylmalonic aciduria and homocystinuria type cblD	DOID_0050716	[A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.]
Homocystinuria	HP_0002156	[An increased concentration of homocystine in the urine.]
obsolete tuberculous ascites	DOID_410
Waardenburg syndrome type 1	DOID_0110948	[A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.]
cerebral folate receptor alpha deficiency	DOID_0050719	[A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.]
Waardenburg syndrome type 3	DOID_0110949	[A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36.]
autosomal recessive osteopetrosis 7	DOID_0110946	[An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.]
Waardenburg syndrome type 2B	DOID_0110947	[A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3.]
obsolete cardiovascular tuberculosis	DOID_414
autosomal recessive osteopetrosis 4	DOID_0110944	[An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.]
obsolete avian tuberculosis	DOID_413	[A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense.]
autosomal recessive osteopetrosis 6	DOID_0110945	[An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.]
obsolete atypical Mycobacterium infectious disease	DOID_412