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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 2L
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Accession:DOID:0110284 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 ANO5 gene on chromosome 11p14. (DO)
Synonyms:exact_synonym: LGMD2L;   Muscular Dystrophy, Limb-Girdle, Type 2L;   anoctaminopathy
 primary_id: MESH:C566968
 alt_id: OMIM:611307;   RDO:0015165
 xref: ORDO:206549
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by OMIM:611307
DNA:mutations:exon, intron:multiple
DNA:duplication, missense mutation, splice-site mutation:exon:c.191dupA, c.1295C>G, p.G231V (c.692G>T) (human)
DNA:duplications, nonsense mutation, missense mutation:exon:multiple
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L
OMIM
ClinVar
PMID:9673985, PMID:17008331, PMID:17132147, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:23663589, PMID:23670307, PMID:23757202, PMID:24022920, PMID:24033266, PMID:24232312, PMID:24803842, PMID:24843231, PMID:25135358, PMID:25326637, PMID:25741868, PMID:25864073, PMID:25891276, PMID:26467025, PMID:26810512, PMID:26911675, PMID:27708273, PMID:27854218, PMID:27862037, PMID:27884173, PMID:27911336, PMID:28492532, PMID:30311386, PMID:31395899, PMID:23606453, PMID:20096397, PMID:22742934 RGD:11066746, RGD:11570558, RGD:11570561 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:7762555, PMID:8353501, PMID:9587029, PMID:10408774, PMID:12686134, PMID:14722927, PMID:16307898, PMID:20490928, PMID:20506325, PMID:22069143, PMID:22267502, PMID:22612060, PMID:25326637, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Fktn fukutin ISO DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) RGD PMID:17044012 RGD:11576328 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
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 2L 3
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 2L 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.