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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 limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: BVES-RELATED CONDITION;   CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE;   CARICK;   LGMD2X;   LGMDR25;   limb-girdle muscular dystrophy, autosomal recessive 25;   limb-girdle muscular dystrophy, type 2X
 primary_id: MIM:616812
 xref: ORDO:476084


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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 Popdc1 popeye domain cAMP effector 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X | ClinVar Annotator: match by term: BVES-related condition OMIM
ClinVar		 PMID:25741868 PMID:26642364 PMID:28492532 PMID:31119192 PMID:35660068 NCBI chr20:50,401,611...50,442,653
Ensembl chr20:48,822,308...48,857,472 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Pathologic Processes 8329
        Cardiac Arrhythmias 778
          autosomal recessive limb-girdle muscular dystrophy type 2X 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        peripheral nervous system disease 4399
          neuropathy 4187
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1358
                  myopathy 1049
                    muscular dystrophy 654
                      limb-girdle muscular dystrophy 235
                        autosomal recessive limb-girdle muscular dystrophy 146
                          autosomal recessive limb-girdle muscular dystrophy type 2X 1
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