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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:Becker muscular dystrophy
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Accession:DOID:9883 term browser browse the term
Definition:A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. (DO)
Synonyms:exact_synonym: BMD;   Becker's muscular dystrophy;   benign congenital myopathy;   benign pseudohypertrophic muscular dystrophy;   muscular dystrophy, Becker type;   pseudohypertrophic progressive muscular dystrophy, Becker type
 narrow_synonym: atypical Becker muscular dystrophy
 primary_id: OMIM:300376
 alt_id: DOID:9002338;   MESH:C570377
 xref: EFO:0000103;   GARD:5900;   MONDO:0010311;   NCI:C84587;   ORDO:98895


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Becker muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO
ISS		 OMIM:300376
ClinVar Annotator: match by term: Becker muscular dystrophy | ClinVar Annotator: match by term: Becker muscular dystrophy, atypical | ClinVar Annotator: match by term: Becker's muscular dystrophy | ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type		 OMIM
MouseDO
ClinVar		 PMID:1047858 PMID:1549596 PMID:1577476 PMID:1632439 PMID:1757094 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        muscular disease 2148
          muscle tissue disease 1294
            myopathy 1008
              muscular dystrophy 600
                Becker muscular dystrophy 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    muscular dystrophy 600
                      Becker muscular dystrophy 3
paths to the root