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Human Disease and Mouse Model Detail
Human Disease Mitochondrial DNA Depletion Syndrome 7 (hepatocerebral Type); MTDPS7
OMIM ID: 271245
Human Phenotype Ontology associations
Synonyms Mitochondrial DNA Depletion Syndrome; OHAHA Syndrome; Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, and Athetosis; Spinocerebellar Ataxia 8, Formerly; SCA8, FORMERLY; Spinocerebellar Ataxia, Infantile, with Sensory Neuropathy; Spinocerebellar Ataxia, Infantile-Onset; IOSCA
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     TWNK* Twnk   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory