"PCH12"^^ . . . "OMIM:618266"^^ . _:vb50946506 . "DOID:0112327"^^ . "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in COASY on chromosome 17q21.2."^^ . . "pontocerebellar hypoplasia type 12"^^ . . _:vb50946506 . "ORDO:611256"^^ . _:vb50946506 . _:vb50946506 . "COASY-related pontocerebellar hypoplasia"^^ . _:vb50946506 . "disease_ontology"^^ .