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Disease Ontology Browser
pontocerebellar hypoplasia type 1D (DOID:0112323)
Alliance: disease page
Synonyms: 'PCH1D'
Alt IDs: OMIM:618065
Definition: A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in EXOSC9 on chromosome 4q27.

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 6.20
The Jackson Laboratory