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

ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 2
go back to main search page
Accession:DOID:0080120 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. (DO)
Synonyms:exact_synonym: MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED;   MTDPS2;   Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type);   TK2-related mitochondrial DNA depletion syndrome, myopathic form
 primary_id: OMIM:609560
 alt_id: RDO:0009330
 xref: ORDO:254875
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
mitochondrial DNA depletion syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        muscular disease 957
          Mitochondrial DNA Depletion Syndrome, Myopathic Form 1
            mitochondrial DNA depletion syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            mitochondrial metabolism disease 307
              mitochondrial DNA depletion syndrome 25
                Mitochondrial DNA Depletion Syndrome, Myopathic Form 1
                  mitochondrial DNA depletion syndrome 2 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.