Pontocerebellar Hypoplasia Type 2E
Disease ID: disease_node_16106
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| Dbxref | MIM:615851 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112328 |
| Data Source | DOID |
| Doid Label | pontocerebellar hypoplasia type 2E |
| Doid Description | A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene. NT MGI. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16106 |
| Doid Id | DOID_0060271 |
| Label | Pontocerebellar Hypoplasia Type 2E |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)