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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:autosomal dominant hyaline body myopathy
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Accession:DOID:0111269 term browser browse the term
Definition:A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. (DO)
Synonyms:exact_synonym: MSMA;   myopathy with lysis of type I myofibrils;   myosin storage myopathy, autosomal dominant
 primary_id: MESH:C564253
 alt_id: OMIM:608358
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant hyaline body myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO DNA:missense mutation: :p.R1845W (23014C>T) (human)
ClinVar Annotator: match by term: Myosin storage myopathy
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS
OMIM
ClinVar
RGD
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 More... RGD:12792959 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital myopathy 32
        hyaline body myopathy 2
          autosomal dominant hyaline body myopathy 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    congenital myopathy 32
                      hyaline body myopathy 2
                        autosomal dominant hyaline body myopathy 1
paths to the root