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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 7
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Accession:DOID:0080126 term browser browse the term
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. (DO)
Synonyms:exact_synonym: IOSCA;   MTDPS7;   OHAHA syndrome;   infantile onset spinocerebellar ataxia;   mitochondrial DNA depletion syndrome 7 (hepatocerebral type);   ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis;   ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis;   spinocerebellar ataxia infantile with sensory neuropathy
 related_synonym: SCA8 (formerly);   spinocerebellar ataxia 8 (formerly)
 primary_id: MESH:C535523
 alt_id: DOID:0050556;   OMIM:271245;   RDO:0000683;   RDO:0008489;   RDO:9004561
 xref: GARD:4062
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mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 308
          mitochondrial DNA depletion syndrome 25
            Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive 1
              mitochondrial DNA depletion syndrome 7 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive 1
                        mitochondrial DNA depletion syndrome 7 1
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