OBO ID: DOID:0080552 |
Term Name: | congenital disorder of glycosylation Ia | Search Ontology: | |
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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. https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation | ||
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Ontology: | Human Disease ( DOID:0080552 ) |
OTHER congenital disorder of glycosylation Ia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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