Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 Myopathy, Infantile, Transient
go back to main search page
Accession:DOID:9007527 term browser browse the term
Definition:Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis.
Synonyms:exact_synonym: COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT;   MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY;   MMIT;   Mitochondrial myopathy, infantile, due to reversible cytochrome c oxidase deficiency;   RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT
 primary_id: MIM:500009;   RDO:9000705


show annotations for term's descendants           Sort by:
Mitochondrial Myopathy, Infantile, Transient term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT ClinVar PMID:25741868 NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:12414820 NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:8186719 PMID:8910895 PMID:8988236 PMID:10502593 PMID:11464242 More... NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient | ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT ClinVar PMID:25741868 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:20018511 PMID:25741868 PMID:32906214 NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        mitochondrial metabolism disease 817
          Mitochondrial Cytopathy 99
            mitochondrial myopathy 99
              Mitochondrial Myopathy, Infantile, Transient 8
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        peripheral nervous system disease 4278
          neuropathy 4064
            neuromuscular disease 3203
              muscular disease 2223
                muscle tissue disease 1351
                  myopathy 1043
                    mitochondrial myopathy 99
                      Mitochondrial Myopathy, Infantile, Transient 8
paths to the root