autosomal recessive limb-girdle muscular dystrophy type 2A - Ontology Report

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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 2A	go back to main search page
Accession:	DOID:0110275	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 proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. (DO)
Synonyms:	exact_synonym:	LGMD2; LGMD2A; LGMDR1; Leyden-Moebius muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy, 1; calpainopathy; limb-girdle muscular dystrophy due to calpain deficiency; limb-girdle muscular dystrophy type 2; limb-girdle muscular dystrophy, type 2A; pelvofemoral muscular dystrophy; primary calpainopathy
	narrow_synonym:	eosinophilic myositis
	broad_synonym:	CAPN3-RELATED DISORDER
	primary_id:	MESH:C535895
	alt_id:	OMIM:253600
	xref:	GARD:3845; NCI:C142079; ORDO:267
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (1)

autosomal recessive limb-girdle muscular dystrophy type 2A

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Capn3

calpain 3

ISO

ClinVar Annotator: match by OMIM:253600
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A
ClinVar Annotator: match by term: Calpainopathy
ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy

OMIM
ClinVar

PMID:1691480 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 PMID:8624690 PMID:9150160 PMID:9246005 PMID:9266733 PMID:9452114 PMID:9536098 PMID:9642272 PMID:9655129 PMID:9762961 PMID:9771675 PMID:9777948 PMID:10102422 PMID:10330340 PMID:10567047 PMID:10679950 PMID:11053681 PMID:11166169 PMID:11245732 PMID:11297944 PMID:11371436 PMID:11525884 PMID:11731278 PMID:12461690 PMID:12890817 PMID:14578192 PMID:14645990 PMID:14959561 PMID:14981715 PMID:15138196 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:15733273 PMID:15843148 PMID:15884399 PMID:16001438 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16542520 PMID:16607617 PMID:16627476 PMID:16650086 PMID:16971480 PMID:17157502 PMID:17236769 PMID:17258832 PMID:17318636 PMID:17526799 PMID:17562833 PMID:17576681 PMID:17596655 PMID:17702496 PMID:17897828 PMID:17979987 PMID:17994539 PMID:18055493 PMID:18073330 PMID:18258189 PMID:18334579 PMID:18337726 PMID:18414213 PMID:18563459 PMID:18854868 PMID:18854869 PMID:19015733 PMID:19048948 PMID:19156839 PMID:19226146 PMID:19285864 PMID:19364062 PMID:19556129 PMID:19835634 PMID:20044116 PMID:20517216 PMID:20580976 PMID:20635405 PMID:20694146 PMID:21172462 PMID:21204801 PMID:21288883 PMID:21386772 PMID:21520333 PMID:21624972 PMID:21896784 PMID:21984748 PMID:22006685 PMID:22057634 PMID:22079131 PMID:22158424 PMID:22378277 PMID:22443334 PMID:22505582 PMID:22926650 PMID:23169433 PMID:23553538 PMID:23666804 PMID:23677060 PMID:23757202 PMID:23821418 PMID:23864287 PMID:24033266 PMID:24715573 PMID:24803842 PMID:24846670 PMID:25046369 PMID:25079074 PMID:25135358 PMID:25214167 PMID:25215589 PMID:25252031 PMID:25326637 PMID:25512505 PMID:25525159 PMID:25741868 PMID:25783436 PMID:25987458 PMID:26060040 PMID:26301378 PMID:26404900 PMID:26467025 PMID:26484845 PMID:26501342 PMID:26583491 PMID:26632398 PMID:26677118 PMID:26810512 PMID:26886200 PMID:27011640 PMID:27020652 PMID:27023906 PMID:27055500 PMID:27066545 PMID:27066551 PMID:27066573 PMID:27081656 PMID:27142102 PMID:27234031 PMID:27259757 PMID:27262448 PMID:27363342 PMID:27431290 PMID:27447704 PMID:27500519 PMID:27558075 PMID:27671536 PMID:27708273 PMID:27854218 PMID:27884173 PMID:28300015 PMID:28403181 PMID:28492532 PMID:28602176 PMID:28881388 PMID:28915917 PMID:29685414 PMID:29797799 PMID:29970176 PMID:30028523 PMID:30056071 PMID:30107846 PMID:30323756 PMID:30564623 PMID:30919934 PMID:31555977 PMID:205172126, PMID:10814721

RGD:734687

NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408

Term paths to the root

Path 1
Term	Annotations
disease	16918
Developmental Disease	10571
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	8883
genetic disease	8399
monogenic disease	6338
autosomal genetic disease	5493
autosomal recessive disease	3229
autosomal recessive limb-girdle muscular dystrophy	106
autosomal recessive limb-girdle muscular dystrophy type 2A	1
Path 2
Term	Annotations
disease	16918
disease of anatomical entity	16286
nervous system disease	11864
peripheral nervous system disease	2421
neuropathy	2233
neuromuscular disease	1780
muscular disease	1191
muscle tissue disease	814
myopathy	650
muscular dystrophy	315
limb-girdle muscular dystrophy	147
autosomal recessive limb-girdle muscular dystrophy	106
autosomal recessive limb-girdle muscular dystrophy type 2A	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS