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ONTOLOGY REPORT - ANNOTATIONS


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: Mitochondrial Complex Deficiency, Combined;   Myopathy With Cataract And Combined Respiratory Chain Deficiency
 narrow_synonym: Myopathy, Progressive Axial With Cataracts
 primary_id: MESH:C567769
 alt_id: OMIM:613076;   RDO:0012037
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Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:7240710
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Neurodevelopmental Disorders 4047
        Developmental Disabilities 360
          Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        peripheral nervous system disease 2111
          neuropathy 1933
            neuromuscular disease 1504
              muscular disease 941
                muscle tissue disease 667
                  myopathy 546
                    mitochondrial myopathy 75
                      Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
paths to the root

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