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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: OMIM:608810
 xref: ORDO:399058


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital structural myopathy 132
        myofibrillar myopathy 63
          myofibrillar myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            neuromuscular disease 3058
              muscular disease 2147
                muscle tissue disease 1293
                  myopathy 1007
                    congenital myopathy 239
                      congenital structural myopathy 132
                        myofibrillar myopathy 63
                          myofibrillar myopathy 2 1
paths to the root