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RGD uses the Human Disease Ontology (DO, 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
For additional species annotation, visit the Alliance of Genome Resources.

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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
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            X-linked monogenic disease 1032
              reducing body myopathy 1B 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  myopathy 643
                    Reducing Body Myopathies 1
                      reducing body myopathy 1B 1
paths to the root