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Disease Ontology Browser
mitochondrial DNA depletion syndrome 5 (DOID:0080124)
Alliance: disease page
Synonyms: succinate-CoA ligase deficiency
Alt IDs: OMIM:612073, MESH:C567624, MESH:C580473
Definition: A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14.

Disease References using Mouse Models (1)

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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MGI 6.22
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