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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
For additional species annotation, visit the Alliance of Genome Resources.


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myofibrillar myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by OMIM:608810
ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 2
ClinVar Annotator: match by term: Alpha-B crystallinopathy
OMIM
ClinVar
PMID:570292 PMID:8000975 PMID:9731540 PMID:11013455 PMID:12601044 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      congenital structural myopathy 157
        myofibrillar myopathy 57
          myofibrillar myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  myopathy 661
                    congenital structural myopathy 157
                      myofibrillar myopathy 57
                        myofibrillar myopathy 2 1
paths to the root