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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 2J
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Accession:DOID:0110283 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). (DO)
Synonyms:exact_synonym: LGMD2J;   LGMDR10;   MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10;   muscular dystrophy, limb-girdle, type 2J
 broad_synonym: AUTOSOMAL RECESSIVE TITINOPATHY
 primary_id: MESH:C563854
 alt_id: MIM:608807;   RDO:0013004
 xref: ICD10CM:G71.0;   ORDO:140922


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autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J ClinVar PMID:25741868 PMID:26467025 PMID:27153395 PMID:27854218 PMID:28492532 More... NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J ClinVar PMID:18678517 PMID:23861362 PMID:24033266 PMID:24704780 PMID:25637381 More... NCBI chr18:11,725,466...11,757,591
Ensembl chr18:11,725,466...11,757,466 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 ClinVar PMID:25326637 PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 4:161,345,398...161,374,188
Ensembl chr 4:161,345,400...161,375,025 		JBrowse link
G Ttn titin ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:608807
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Autosomal recessive titinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 		OMIM
CTD
MouseDO
ClinVar		 PMID:1745277 PMID:3125138 PMID:9536098 PMID:9804419 PMID:10053013 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                autosomal recessive limb-girdle muscular dystrophy 146
                  autosomal recessive limb-girdle muscular dystrophy type 2J 6
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    muscular dystrophy 659
                      limb-girdle muscular dystrophy 235
                        autosomal recessive limb-girdle muscular dystrophy 146
                          autosomal recessive limb-girdle muscular dystrophy type 2J 6
paths to the root