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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:Myotubular Myopathy with Abnormal Genital Development
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Accession:DOID:9000301 term browser browse the term
Synonyms:primary_id: MESH:C564561
 alt_id: OMIM:300219


show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital structural myopathy 131
        Myotubular Myopathy with Abnormal Genital Development 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    congenital myopathy 238
                      congenital structural myopathy 131
                        Myotubular Myopathy with Abnormal Genital Development 0
paths to the root