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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:scapuloperoneal myopathy
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Accession:DOID:0060253 term browser browse the term
Definition:A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. (DO)
Synonyms:exact_synonym: scapuloperoneal muscular dystrophy;   scapuloperoneal syndrome, myopathic type
 narrow_synonym: MYH7-related late-onset scapuloperoneal muscular dystrophy
 xref: MESH:C536624;   MONDO:0000727


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scapuloperoneal myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISS OMIM:181430 | OMIM:300695 MouseDO NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:139,592,604...139,652,282 		JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr15:32,421,615...32,421,726 JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: MYH7-related late-onset scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy ClinVar PMID:25741868 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: MYH7-related late-onset scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE | ClinVar Annotator: match by term: Scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy | ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type ClinVar PMID:1975 PMID:1052196 PMID:1423936 PMID:1430197 PMID:1552912 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr15:32,421,615...32,421,726 JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant | ClinVar Annotator: match by term: MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
DNA:missense mutation: :p.R1845W (23014C>T) (human) 		OMIM
ClinVar
RGD		 PMID:1975 PMID:1052196 PMID:1423936 PMID:1430197 PMID:1552912 More... RGD:12792959 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
X-Linked Scapuloperoneal Muscular Dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCAPULOPERONEAL MYOPATHY, FHL1-RELATED | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy 		OMIM
ClinVar
CTD		 PMID:18179888 PMID:18179901 PMID:19181672 PMID:19716112 PMID:21520333 More... NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:139,592,604...139,652,282 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        muscular disease 1132
          muscle tissue disease 724
            myopathy 529
              muscular dystrophy 222
                Emery-Dreifuss muscular dystrophy 21
                  scapuloperoneal myopathy 4
                    X-Linked Scapuloperoneal Muscular Dystrophy 1
                    autosomal dominant hyaline body myopathy 2
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        peripheral nervous system disease 2242
          neuropathy 2032
            neuromuscular disease 1464
              muscular disease 1132
                muscle tissue disease 724
                  myopathy 529
                    muscular dystrophy 222
                      Emery-Dreifuss muscular dystrophy 21
                        scapuloperoneal myopathy 4
                          X-Linked Scapuloperoneal Muscular Dystrophy 1
                          autosomal dominant hyaline body myopathy 2
paths to the root