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Disease Ontology Browser
mitochondrial DNA depletion syndrome 7 (DOID:0080126)
Alliance: disease page
Synonyms: infantile onset spinocerebellar ataxia; OHAHA SYNDROME
Alt IDs: OMIM:271245, MESH:C535523
Definition: A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.

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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory