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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
 xref: GARD:5900;   NCI:C84587;   ORDO:98895
For additional species annotation, visit the Alliance of Genome Resources.


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: Muscular dystrophy pseudohypertrophic progressive, Becker type
ClinVar Annotator: match by term: Becker muscular dystrophy, atypical
ClinVar Annotator: match by term: Muscular dystrophy, Becker
ClinVar
OMIM
PMID:1047858 PMID:1549596 PMID:1577476 PMID:1632439 PMID:1757094 PMID:1996328 PMID:2677830 PMID:7611292 PMID:7881286 PMID:7951253 PMID:8279470 PMID:8281150 PMID:8301652 PMID:8322822 PMID:8401537 PMID:8504498 PMID:8840119 PMID:9410897 PMID:9544849 PMID:10832829 PMID:11039581 PMID:11053684 PMID:11710958 PMID:12522557 PMID:12632325 PMID:12754707 PMID:15351422 PMID:15643612 PMID:16770791 PMID:17041906 PMID:17259292 PMID:17854090 PMID:18583217 PMID:18652600 PMID:19074751 PMID:19206170 PMID:19367636 PMID:19409785 PMID:19530190 PMID:19602481 PMID:19793655 PMID:19937601 PMID:19959795 PMID:20485447 PMID:21104870 PMID:21396098 PMID:21399986 PMID:21515508 PMID:21525508 PMID:21681106 PMID:22223181 PMID:22910583 PMID:23453023 PMID:23536893 PMID:23756440 PMID:23757202 PMID:24033266 PMID:24292997 PMID:24349052 PMID:25007885 PMID:25447171 PMID:25525159 PMID:25612904 PMID:25637381 PMID:25741868 PMID:25972034 PMID:26467025 PMID:26743743 PMID:26911353 PMID:27593222 PMID:27708273 PMID:27930565 PMID:28116794 PMID:28492532 PMID:28859693 PMID:28878402 PMID:29581631 PMID:29641567 PMID:29973226 PMID:30833962 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
Benign Pseudohypertrophic 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: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286 PMID:17259292 PMID:19937601 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        muscular disease 1218
          atrophic muscular disease 332
            muscular dystrophy 330
              Becker muscular dystrophy 3
                Benign Pseudohypertrophic Muscular Dystrophy 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    muscular dystrophy 330
                      Becker muscular dystrophy 3
                        Benign Pseudohypertrophic Muscular Dystrophy 3
paths to the root