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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 4
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Accession:DOID:0080095 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10. (DO)
Synonyms:exact_synonym: MFM4;   zaspopathy
 primary_id: OMIM:609452
 alt_id: RDO:0009319
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 17129
    physical disorder 3071
      congenital structural myopathy 155
        myofibrillar myopathy 56
          myofibrillar myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        peripheral nervous system disease 2516
          neuropathy 2316
            neuromuscular disease 1829
              muscular disease 1229
                muscle tissue disease 820
                  myopathy 656
                    congenital structural myopathy 155
                      myofibrillar myopathy 56
                        myofibrillar myopathy 4 1
paths to the root