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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:X-Linked Scapuloperoneal Muscular Dystrophy
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Accession:DOID:9001526 term browser browse the term
Synonyms:exact_synonym: SPM;   Scapuloperoneal Myopathy, FHL1-Related;   X-Linked Dominant Scapuloperoneal Myopathy;   X-linked SPMD;   X-linked scapuloperoneal syndrome
 primary_id: MESH:C567481
 alt_id: OMIM:300695
 xref: GARD:7608;   MONDO:0010400;   ORDO:431272


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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 IAGP
EXP		 ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy
ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy		 ClinVar
OMIM
CTD		 PMID:18179888 PMID:18179901 PMID:19181672 PMID:19716112 PMID:21629301 More... NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        muscular disease 2807
          muscle tissue disease 1715
            myopathy 1391
              muscular dystrophy 849
                Emery-Dreifuss muscular dystrophy 153
                  scapuloperoneal myopathy 7
                    X-Linked Scapuloperoneal Muscular Dystrophy 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              muscular disease 2807
                muscle tissue disease 1715
                  myopathy 1391
                    muscular dystrophy 849
                      Emery-Dreifuss muscular dystrophy 153
                        scapuloperoneal myopathy 7
                          X-Linked Scapuloperoneal Muscular Dystrophy 1
paths to the root