Pontocerebellar Hypoplasia Type 1B
Disease ID: disease_node_16116
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:614678, ORDO:2254 |
|---|---|
| Subclassof | DOID_0112322, DOID_0050737 |
| Data Source | DOID |
| Doid Label | pontocerebellar hypoplasia type 1B |
| Doid Description | A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. NT MGI. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16116 |
| Doid Id | DOID_0060266 |
| Label | Pontocerebellar Hypoplasia Type 1B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)