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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 OMIM:300717 OMIM
ClinVar
PMID:7722535 PMID:18274675 PMID:19171836 PMID:19181672 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
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 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        muscular disease 1168
          muscle tissue disease 792
            myopathy 644
              Reducing Body Myopathies 1
                reducing body myopathy 1A 1
                reducing body myopathy 1B 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    Reducing Body Myopathies 1
                      reducing body myopathy 1A 1
                      reducing body myopathy 1B 1
paths to the root