mitochondrial DNA depletion syndrome 18 Disease Ontology Browser

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mitochondrial DNA depletion syndrome 18 (DOID:0070449)
Alliance: disease page
Alt IDs: OMIM:618811
Definition: A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3.

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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