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Disease Ontology Browser
multiple mitochondrial dysfunctions syndrome 10 (DOID:0070737)
Alliance: disease page
Synonyms: MMDS10
Alt IDs: OMIM:620960, ORDO:727296, UMLS_CUI:C5975413
Definition: A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning difficulties and neurobehavioral comorbidities, that has_material_basis_in compound heterozygous mutation in the CIAO1 gene on chromosome 2q11.

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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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05/26/2026
MGI 6.24 		The Jackson Laboratory