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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 Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
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Accession:DOID:9007052 term browser browse the term
Synonyms:exact_synonym: MPMCD;   combined mitochondrial complex deficiency;   mitochondrial progressive myopathy with congenital cataract and developmental delay;   myopathy with cataract and combined respiratory chain deficiency
 narrow_synonym: progressive axial myopathy with cataracts
 primary_id: MESH:C567769
 alt_id: MIM:613076



show annotations for term's descendants           Sort by:
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfer growth factor, augmenter of liver regeneration ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
OMIM
CTD
ClinVar
PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7029
      Hearing Disorders 818
        Hearing Loss 813
          Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18272
      nervous system disease 14119
        peripheral nervous system disease 4132
          neuropathy 3915
            neuromuscular disease 3064
              muscular disease 2152
                muscle tissue disease 1299
                  myopathy 1014
                    mitochondrial myopathy 124
                      Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
paths to the root