pontocerebellar hypoplasia type 7 Disease Ontology Browser

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Disease Ontology Browser

pontocerebellar hypoplasia type 7 (DOID:0060276)
Alliance: disease page
Alt IDs: OMIM:614969, ICD10CM:Q04.3, ORDO:284339
Definition: A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 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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