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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 recessive hyaline body myopathy
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Accession:DOID:0111268 term browser browse the term
Definition:A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. (DO)
Synonyms:exact_synonym: MSMB;   autosomal recessive myosin storage myopathy
 primary_id: MESH:C564970
 alt_id: OMIM:255160;   RDO:0013748
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive 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 ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive OMIM
ClinVar
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 More... 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 18154
    physical disorder 4193
      congenital myopathy 38
        hyaline body myopathy 2
          autosomal recessive hyaline body myopathy 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        peripheral nervous system disease 3019
          neuropathy 2805
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  myopathy 779
                    congenital myopathy 38
                      hyaline body myopathy 2
                        autosomal recessive hyaline body myopathy 1
paths to the root