Pontocerebellar Hypoplasia Type 1D
Disease ID: disease_node_16115
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| Dbxref | MIM:618065 |
|---|---|
| Subclassof | DOID_0112322, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PCH1D |
| Doid Label | pontocerebellar hypoplasia type 1D |
| Doid Description | A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16115 |
| Doid Id | DOID_0112323 |
| Label | Pontocerebellar Hypoplasia Type 1D |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)