Pontocerebellar Hypoplasia Type 16
Disease ID: disease_node_16103
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| Dbxref | MIM:619527 |
|---|---|
| Subclassof | DOID_0060264, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PCH16 |
| Doid Label | pontocerebellar hypoplasia type 16 |
| Doid Description | A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16103 |
| Doid Id | DOID_0112333 |
| Label | Pontocerebellar Hypoplasia Type 16 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)