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DOID:0080552 - congenital disorder of glycosylation Ia
Disease Ontology Definition:A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.
Synonyms: congenital disorder of glycosylation 1a, PMM2-congenital disorder of glycosylation
Xenbase Genes : pmm2
MIM:
MIM:212065 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee