Congenital Disorder Of Glycosylation Ia
Disease ID: disease_node_20421
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| Dbxref | GARD:9826, MIM:212065, ORDO:79318 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | PMM2-congenital disorder of glycosylation, congenital disorder of glycosylation 1a |
| Doid Label | congenital disorder of glycosylation Ia |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20421 |
| Doid Id | DOID_0080552 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ia |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)