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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 17445
    physical disorder 3128
      congenital structural myopathy 158
        myofibrillar myopathy 58
          myofibrillar myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        peripheral nervous system disease 2586
          neuropathy 2377
            neuromuscular disease 1890
              muscular disease 1291
                muscle tissue disease 835
                  myopathy 671
                    congenital structural myopathy 158
                      myofibrillar myopathy 58
                        myofibrillar myopathy 4 1
paths to the root