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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 2B
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Accession:DOID:0110276 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. (DO)
Synonyms:exact_synonym: LGMD2B;   LGMD3;   LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B;   Muscular dystrophy, limb-girdle, type 3;   limb-girdle muscular dystrophy due to dysferlin deficiency
 primary_id: MESH:C535899
 alt_id: OMIM:253601;   RDO:0001264
 xref: NCI:C142080;   ORDO:268
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by OMIM:253601
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B
OMIM
ClinVar
CTD
PMID:1483054 PMID:2764718 PMID:8808603 PMID:9731526 PMID:9731527 PMID:10196377 PMID:10766988 PMID:11053681 PMID:11468312 PMID:11532985 PMID:12471055 PMID:12796534 PMID:14673575 PMID:14678801 PMID:15293763 PMID:15469449 PMID:15477515 PMID:15535137 PMID:15827562 PMID:15835269 PMID:16010686 PMID:16087766 PMID:16100712 PMID:16606933 PMID:16705711 PMID:16891820 PMID:16934466 PMID:16996541 PMID:17070050 PMID:17287450 PMID:17331981 PMID:17562833 PMID:17698709 PMID:17825554 PMID:17828519 PMID:17897828 PMID:17994539 PMID:18276788 PMID:18294055 PMID:18306167 PMID:18392839 PMID:18832576 PMID:18853459 PMID:19015158 PMID:19084402 PMID:19154541 PMID:19493611 PMID:19528035 PMID:19953532 PMID:20301480 PMID:20497525 PMID:20535123 PMID:20544924 PMID:20558759 PMID:20623375 PMID:20817457 PMID:21173544 PMID:21520333 PMID:21522182 PMID:21816046 PMID:22057634 PMID:22174839 PMID:22194990 PMID:22246893 PMID:22297152 PMID:22318734 PMID:22616201 PMID:22849992 PMID:22995991 PMID:23185377 PMID:23243261 PMID:23254335 PMID:23406536 PMID:23519732 PMID:23530687 PMID:23641709 PMID:23757202 PMID:24033266 PMID:24123366 PMID:24239059 PMID:24438169 PMID:24488599 PMID:24838345 PMID:25135358 PMID:25143362 PMID:25312915 PMID:25326637 PMID:25493284 PMID:25525159 PMID:25574751 PMID:25591676 PMID:25591678 PMID:25741868 PMID:25783436 PMID:25807536 PMID:25821721 PMID:25868377 PMID:25898921 PMID:25900324 PMID:25987458 PMID:26000923 PMID:26060040 PMID:26088049 PMID:26273692 PMID:26290895 PMID:26404900 PMID:26436962 PMID:26467025 PMID:26579332 PMID:26671124 PMID:26764160 PMID:26806107 PMID:26916285 PMID:27066573 PMID:27195159 PMID:27229680 PMID:27290639 PMID:27363342 PMID:27447704 PMID:27602406 PMID:27641898 PMID:27647186 PMID:27666772 PMID:27821570 PMID:27854218 PMID:27858744 PMID:27884173 PMID:28104817 PMID:28403181 PMID:28492532 PMID:28600779 PMID:28877744 PMID:29138090 PMID:29382405 PMID:29797799 PMID:29970176 PMID:30098242 PMID:30107846 PMID:30292141 PMID:30366248 PMID:30564623 PMID:32860008 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Vdr vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                autosomal recessive limb-girdle muscular dystrophy 103
                  autosomal recessive limb-girdle muscular dystrophy type 2B 4
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  myopathy 643
                    muscular dystrophy 312
                      limb-girdle muscular dystrophy 144
                        autosomal recessive limb-girdle muscular dystrophy 103
                          autosomal recessive limb-girdle muscular dystrophy type 2B 4
paths to the root