pontocerebellar hypoplasia type 8 Disease Ontology Browser

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Disease Ontology Browser

pontocerebellar hypoplasia type 8 (DOID:0060277)
Alliance: disease page
Alt IDs: OMIM:614961, ICD10CM:Q04.3, ORDO:324569
Definition: A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A 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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