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General Information
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| Term |
congenital disorder of glycosylation Ia |
ID (Ontology) |
DOID:0080552 (Human Disease) |
| 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. |
| Also Known As |
"congenital disorder of glycosylation 1a" ; "PMM2-congenital disorder of glycosylation" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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congenital disorder of glycosylation Ia | 1 | 1 | for disease ribbon | congenital disorder of glycosylation Ia | 1 | -- | model of | congenital disorder of glycosylation Ia | 1 | -- |
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Relationships