Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
mucopolysaccharidosis type IIIB	DOID_0111394	[A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.]
obsolete hypocalcemia and hypomagnesemia of newborn	DOID_13670
amelogenesis imperfecta type 1H	DOID_0110064	[An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.]
mucopolysaccharidosis type IIIA	DOID_0111395	[A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3.]
mucopolysaccharidosis type IVB	DOID_0111392	[A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in GLB1 on chromosome 3p22.3.]
amelogenesis imperfecta hypomaturation type 2A3	DOID_0110061	[An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene.]
mucopolysaccharidosis type IIIC	DOID_0111393	[A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in HGSNAT on chromosome 8p11.2-p11.1.]
amelogenesis imperfecta hypomaturation type 2A4	DOID_0110062	[An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.]
mucopolysaccharidosis Ih	DOID_0111390	[A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3.]
mucopolysaccharidosis IVA	DOID_0111391	[A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in GALNS on chromosome 16q24.3.]
amelogenesis imperfecta hypomaturation type 2A2	DOID_0110060	[An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).]
obsolete postsurgical testicular hypofunction	DOID_11018
primary eye hypotony	DOID_12349
obsolete testicular dysfunction	DOID_11019
Enterovirus A	NCBITaxon_138948
obsolete simple type schizophrenia subchronic state	DOID_13679
SAPHO syndrome	DOID_13677
obsolete hyperkinetic heart syndrome	DOID_12346
anorectal stricture	DOID_11014
FTDALS4	DOID_0110069	[An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14.]