All terms in DOID

Label Id Description
amelogenesis imperfecta type 1G DOID_0110066 [An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.]
congenital dyserythropoietic anemia type Ib DOID_0111397 [A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14.]
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.]
amelogenesis imperfecta hypomaturation type 2A5 DOID_0110063 [An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32.]
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 the SGSH gene 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 the GLB1 gene 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 the HGSNAT gene 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 the IDUA gene on chromosome 4p16.3.]
amelogenesis imperfecta hypomaturation type 2A2 DOID_0110060 [An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).]
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 the GALNS gene on chromosome 16q24.3.]
obsolete postsurgical testicular hypofunction DOID_11018
primary eye hypotony DOID_12349
obsolete testicular dysfunction DOID_11019
Enterovirus A71 NCBITaxon_39054
Enterovirus A NCBITaxon_138948
obsolete simple type schizophrenia subchronic state DOID_13679