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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:autosomal recessive limb-girdle muscular dystrophy type 2X
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Accession:DOID:0110290 term browser browse the term
Definition:An autosomal recessive muscle disorder characterized by slowly progressive onset of proximal lower limb weakness in adulthood. Affected individuals also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life. LGMD2X is caused by homozygous mutation in the BVES gene on chromosome 6q21. (OMIM)
Synonyms:exact_synonym: CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE;   CARICK;   LGMD2X;   LGMDR25;   MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25;   muscular dystrophy, limb-girdle, type 2X
 primary_id: OMIM:616812
 alt_id: RDO:9001160
 xref: ORDO:476084
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bves blood vessel epicardial substance ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2X
ClinVar
OMIM
PMID:25741868, PMID:26642364, PMID:31119192 NCBI chr20:50,439,885...50,474,678
Ensembl chr20:50,439,883...50,474,678
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Pathologic Processes 6127
        Cardiac Arrhythmias 591
          autosomal recessive limb-girdle muscular dystrophy type 2X 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  atrophic muscular disease 328
                    muscular dystrophy 326
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 105
                          autosomal recessive limb-girdle muscular dystrophy type 2X 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.