Congenital Disorder Of Deglycosylation 2
Disease ID: disease_node_20472
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| Dbxref | MIM:619775 |
|---|---|
| Subclassof | DOID_0060991, DOID_0050737 |
| Data Source | DOID |
| Doid Label | congenital disorder of deglycosylation 2 |
| Doid Description | A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20472 |
| Doid Id | DOID_0060990 |
| Label | Congenital Disorder Of Deglycosylation 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Deglycosylation(ID:disease_node_20471) (Disease)