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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:MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
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Accession:DOID:9008558 term browser browse the term
Definition:An autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia.
Synonyms:exact_synonym: MMDD;   MUSCLE AMP DEAMINASE DEFICIENCY;   MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO;   MYOPATHY DUE TO AMPD1 DEFICIENCY
 primary_id: OMIM:615511
 xref: NCI:C157504
For additional species annotation, visit the Alliance of Genome Resources.


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MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMPD1 adenosine monophosphate deaminase 1 ISO OMIM NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13605
    disease of anatomical entity 13266
      musculoskeletal system disease 5065
        muscular disease 1121
          muscle tissue disease 757
            myopathy 596
              MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 13605
    disease of anatomical entity 13266
      nervous system disease 10957
        peripheral nervous system disease 2289
          neuropathy 2125
            neuromuscular disease 1696
              muscular disease 1121
                muscle tissue disease 757
                  myopathy 596
                    MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 1
paths to the root