Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:mitochondrial DNA depletion syndrome 7
go back to main search page
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;   MITOCHONDRIAL HEPATOPATHY;   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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr17:63,795,670...63,827,313
Ensembl chr17:63,795,671...63,839,907
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: mitochondrial hepatopathy OMIM
ClinVar
PMID:12872260 PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        mitochondrial metabolism disease 442
          mitochondrial DNA depletion syndrome 37
            Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive 3
              mitochondrial DNA depletion syndrome 7 3
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        peripheral nervous system disease 2993
          neuropathy 2780
            neuromuscular disease 2202
              muscular disease 1432
                muscle tissue disease 949
                  myopathy 780
                    mitochondrial myopathy 110
                      Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive 3
                        mitochondrial DNA depletion syndrome 7 3
paths to the root