Congenital Disorder Of Glycosylation Ie
Disease ID: disease_node_20416
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| Dbxref | GARD:9831, MIM:608799, ORDO:79322 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1e |
| Doid Label | congenital disorder of glycosylation Ie |
| Doid Description | A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20416 |
| Doid Id | DOID_0080557 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ie |
- 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)