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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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Pathological Conditions, Signs and Symptoms 8840
      Pathologic Processes 6201
        Cardiac Arrhythmias 589
          autosomal recessive limb-girdle muscular dystrophy type 2X 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  atrophic muscular disease 314
                    muscular dystrophy 312
                      limb-girdle muscular dystrophy 144
                        autosomal recessive limb-girdle muscular dystrophy 103
                          autosomal recessive limb-girdle muscular dystrophy type 2X 1
paths to the root