pontocerebellar hypoplasia type 2F Disease Ontology Browser

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Disease Ontology Browser

pontocerebellar hypoplasia type 2F (DOID:0112329)
Alliance: disease page
Synonyms: PCH2F
Alt IDs: OMIM:617026
Definition: A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3.

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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