Pontocerebellar Hypoplasia Type 12
Disease ID: disease_node_16108
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| Dbxref | MIM:618266, ORDO:611256 |
|---|---|
| Subclassof | DOID_0060264, DOID_0050737 |
| Data Source | DOID |
| Synonyms | COASY-related pontocerebellar hypoplasia, PCH12 |
| Doid Label | pontocerebellar hypoplasia type 12 |
| Doid Description | A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16108 |
| Doid Id | DOID_0112327 |
| Label | Pontocerebellar Hypoplasia Type 12 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)