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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: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:24488599, PMID:24838345, PMID:25135358, PMID:25143362, PMID:25312915, PMID:25326637, PMID:25493284, 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:26404900, PMID:26436962, PMID:26467025, PMID:26579332, PMID:26671124, PMID:26806107, PMID:26916285, PMID:27066573, 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:30311386, 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 Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 ClinVar PMID:24033266, PMID:25741868, PMID:27854218, PMID:28492532, PMID:29300372 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                autosomal recessive limb-girdle muscular dystrophy 105
                  autosomal recessive limb-girdle muscular dystrophy type 2B 5
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    muscular dystrophy 327
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 105
                          autosomal recessive limb-girdle muscular dystrophy type 2B 5
paths to the root

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