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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 myopathy 1B
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Accession:DOID:0080687 term browser browse the term
Definition:A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. (DO)
Synonyms:exact_synonym: RBMX1B;   REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET;   reducing body myopathy, X-linked, childhood-onset
 primary_id: MESH:C567468
 alt_id: OMIM:300718



show annotations for term's descendants           Sort by:
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 term: Myopathy, reducing body, X-linked, childhood-onset
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16919903 PMID:18274675 PMID:18952429 PMID:19171836 PMID:19716112 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          monogenic disease 10276
            X-linked monogenic disease 1363
              reducing body myopathy 1B 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        peripheral nervous system disease 4087
          neuropathy 3872
            neuromuscular disease 3048
              muscular disease 2136
                muscle tissue disease 1283
                  myopathy 996
                    Reducing Body Myopathies 1
                      reducing body myopathy 1B 1
paths to the root