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Disease Ontology Browser
pontocerebellar hypoplasia type 12 (DOID:0112327)
Alliance: disease page
Synonyms: 'COASY-related pontocerebellar hypoplasia'; 'PCH12'
Alt IDs: OMIM:618266, ORDO:611256
Definition: A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in COASY on chromosome 17q21.2.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.19
The Jackson Laboratory