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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: CMYP7A;   MSMA;   SPMD;   SPMM;   congenital myopathy 7A;   congenital myopathy 7A, myosin storage, autosomal dominant;   myopathy with lysis of type I myofibrils;   myosin storage myopathy, autosomal dominant;   scapuloperoneal muscular dystrophy;   scapuloperoneal myopathy, MYH7-related;   scapuloperoneal syndrome, myopathic type
 primary_id: MESH:C564253
 alt_id: DOID:9001810;   OMIM:608358


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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 Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant ClinVar NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO DNA:missense mutation: :p.R1845W (23014C>T) (human)
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant | ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS | ClinVar Annotator: match by term: MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related		 OMIM
ClinVar
CTD
RGD		 PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... RGD:12792959 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                autosomal dominant hyaline body myopathy 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  atrophic muscular disease 604
                    muscular dystrophy 600
                      Emery-Dreifuss muscular dystrophy 122
                        scapuloperoneal myopathy 3
                          autosomal dominant hyaline body myopathy 2
paths to the root