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Disease Ontology Browser
pontocerebellar hypoplasia type 2A (DOID:0060267)
Alliance: disease page
Alt IDs: OMIM:277470, MESH:C564738, ORDO:2524, UMLS_CUI:C1848526
Definition: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.

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 6.21
The Jackson Laboratory