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Disease Ontology Browser
pontocerebellar hypoplasia type 16 (DOID:0112333)
Alliance: disease page
Synonyms: 'PCH16'
Alt IDs: OMIM:619527
Definition: A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in MINPP1 on chromosome 10q23.2.


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
06/23/2022
MGI 6.20
The Jackson Laboratory