Pontocerebellar Hypoplasia Type 1F
Disease ID: disease_node_16113
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:619304 |
|---|---|
| Subclassof | DOID_0112322, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PCH1F |
| Doid Label | pontocerebellar hypoplasia type 1F |
| Doid Description | A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16113 |
| Doid Id | DOID_0112331 |
| Label | Pontocerebellar Hypoplasia Type 1F |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)