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Disease Ontology Browser
congenital disorder of glycosylation Ia (DOID:0080552)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1a; PMM2-congenital disorder of glycosylation
Alt IDs: OMIM:212065, ORDO:79318
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory