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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 1A
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Accession:DOID:0080090 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 infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. (DO)
Synonyms:exact_synonym: RBMX1A;   severe X-linked reducing body myopathy 1A with infantile or early childhood onset;   severe X-linked reducing body myopathy, early-onset
 primary_id: MESH:C567469
 alt_id: MIM:300717



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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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7722535 PMID:18274675 PMID:19171836 PMID:19181672 PMID:19716112 More... NCBI chr  X:139,592,794...139,652,290 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10931
            X-linked monogenic disease 1455
              X-linked dominant disease 250
                reducing body myopathy 1A 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        peripheral nervous system disease 4382
          neuropathy 4170
            neuromuscular disease 3218
              muscular disease 2225
                muscle tissue disease 1353
                  myopathy 1045
                    Reducing Body Myopathies 1
                      reducing body myopathy 1A 1
paths to the root