Congenital Disorder Of Glycosylation Ic
Disease ID: disease_node_20418
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| Dbxref | GARD:9829, MIM:603147, ORDO:79320 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1c |
| Doid Label | congenital disorder of glycosylation Ic |
| Doid Description | A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20418 |
| Doid Id | DOID_0080555 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ic |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease)