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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 2
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Accession:DOID:0080093 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: Alpha-B Crystallinopathy;   MFM2;   Myopathy, Cardioskeletal, Desmin-Related, with Cataract;   desmin-related myopathy, associated with mutation in the CRYAB gene;   myofibrillar myopathy, alpha-B crystallin-related;   myofibrillar myopathy, with or without cataract and/or cardiomyopathy
 primary_id: MESH:C563848
 alt_id: MIM:608810
 xref: NCI:C206516;   ORDO:399058



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      congenital structural myopathy 142
        myofibrillar myopathy 65
          myofibrillar myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        peripheral nervous system disease 4383
          neuropathy 4171
            neuromuscular disease 3219
              muscular disease 2226
                muscle tissue disease 1354
                  myopathy 1046
                    congenital myopathy 248
                      congenital structural myopathy 142
                        myofibrillar myopathy 65
                          myofibrillar myopathy 2 1
paths to the root