pontocerebellar hypoplasia type 12 Disease Ontology Browser

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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 the COASY gene 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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