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Disease Ontology Browser
pontocerebellar hypoplasia type 6 (DOID:0060275)
Alliance: disease page
Alt IDs: OMIM:611523, MESH:C548074, ORDO:166073, UMLS_CUI:C1969084
Definition: A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory