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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:Reducing Body Myopathies
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Accession:DOID:9002604 term browser browse the term
Synonyms:exact_synonym: reducing body myopathy
 xref: GARD:12162
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
reducing body myopathy 1A 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: Myopathy, reducing body, X-linked, early-onset, severe
ClinVar Annotator: match by OMIM:300717
OMIM
ClinVar
PMID:7722535 PMID:18274675 PMID:19171836 PMID:19181672 PMID:20633900 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
reducing body myopathy 1B 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 OMIM:300718
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset
OMIM
ClinVar
PMID:16919903 PMID:18274675 PMID:18952429 PMID:19171836 PMID:25741868 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        muscular disease 1283
          muscle tissue disease 832
            myopathy 666
              Reducing Body Myopathies 1
                reducing body myopathy 1A 1
                reducing body myopathy 1B 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
                    Reducing Body Myopathies 1
                      reducing body myopathy 1A 1
                      reducing body myopathy 1B 1
paths to the root