Search Ontology:
Human Disease
pontocerebellar hypoplasia type 12
- Term ID
- DOID:0112327
- Synonyms
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- COASY-related pontocerebellar hypoplasia
- PCH12
- Definition
- A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. https://pubmed.ncbi.nlm.nih.gov/30089828/
- References
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- MIM:618266
- ORDO:611256
- Ontology
- Human Disease ( DOID:0112327 )
- is a type of
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Genes Involved
Zebrafish Models