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Disease Ontology Browser
pontocerebellar hypoplasia type 3 (DOID:0060272)
Alliance: disease page
Alt IDs: OMIM:608027, MESH:C548072, ORDO:97249, UMLS_CUI:C1842687
Definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.

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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory