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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:myofibrillar myopathy 5
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Accession:DOID:0080096 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)
Synonyms:exact_synonym: MFM, filamin C-related;   MFM5;   filamin C-related myofibrillar myopathy;   filaminopathy;   filaminopathy, autosomal dominant
 broad_synonym: FLNB-related disorders
 primary_id: MESH:C537932
 alt_id: OMIM:609524
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital structural myopathy 157
        myofibrillar myopathy 58
          myofibrillar myopathy 5 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    congenital structural myopathy 157
                      myofibrillar myopathy 58
                        myofibrillar myopathy 5 2
paths to the root