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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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show annotations for term's descendants           Sort by:
Becker muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO 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
ClinVar		 PMID:1047858 PMID:1549596 PMID:1577476 PMID:1632439 PMID:1757094 More... NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		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 chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404 		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 chrNW_004955422:27,844,699...27,872,104
Ensembl chrNW_004955422:27,844,853...27,871,547 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7250
        muscular disease 2000
          muscle tissue disease 1199
            myopathy 929
              muscular dystrophy 554
                Becker muscular dystrophy 3
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3824
          neuropathy 3643
            neuromuscular disease 2847
              muscular disease 2000
                muscle tissue disease 1199
                  myopathy 929
                    muscular dystrophy 554
                      Becker muscular dystrophy 3
paths to the root