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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
 primary_id: MESH:C563854
 alt_id: OMIM:608807;   RDO:0013004
 xref: ICD10CM:G71.0;   ORDO:140922
For additional species annotation, visit the Alliance of Genome Resources.


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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 Ttn titin ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
OMIM
ClinVar
PMID:1745277 PMID:9536098 PMID:9804419 PMID:10053013 PMID:10462489 PMID:11717165 PMID:11846417 PMID:12145747 PMID:12669942 PMID:15802564 PMID:17344846 PMID:17444505 PMID:17576681 PMID:18414213 PMID:18948003 PMID:19608031 PMID:19911250 PMID:20890277 PMID:21520333 PMID:21617319 PMID:21810661 PMID:22335739 PMID:22526018 PMID:22820391 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23446887 PMID:23478172 PMID:23486992 PMID:23518707 PMID:23675308 PMID:23757202 PMID:23861362 PMID:23975875 PMID:24011988 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24105469 PMID:24119082 PMID:24231549 PMID:24271327 PMID:24315344 PMID:24395473 PMID:24440382 PMID:24444549 PMID:24459294 PMID:24476948 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24578547 PMID:24636144 PMID:24667040 PMID:24892279 PMID:24980681 PMID:25016126 PMID:25037085 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25363768 PMID:25447171 PMID:25448463 PMID:25498755 PMID:25500009 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25783436 PMID:25889363 PMID:25979592 PMID:26084686 PMID:26272908 PMID:26383259 PMID:26392295 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26559152 PMID:26627873 PMID:26701604 PMID:26718681 PMID:26735901 PMID:26777568 PMID:27040692 PMID:27066507 PMID:27194543 PMID:27273923 PMID:27321809 PMID:27400856 PMID:27418678 PMID:27532257 PMID:27585509 PMID:27588451 PMID:27650965 PMID:27788187 PMID:27813223 PMID:27854218 PMID:27854229 PMID:27863505 PMID:27868399 PMID:27886618 PMID:27930701 PMID:28045975 PMID:28138913 PMID:28166282 PMID:28256728 PMID:28295036 PMID:28416588 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28704380 PMID:28750076 PMID:28771489 PMID:28822653 PMID:28831623 PMID:28857138 PMID:29029073 PMID:29099038 PMID:29179779 PMID:29221435 PMID:29263846 PMID:29361395 PMID:29386531 PMID:29447731 PMID:29540445 PMID:29590070 PMID:29691892 PMID:29892087 PMID:29961767 PMID:29970176 PMID:30086531 PMID:30365001 PMID:30371277 PMID:30429050 PMID:30535219 PMID:30615648 PMID:30724488 PMID:30847666 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31028938 PMID:31127727 PMID:31215789 PMID:31317183 PMID:31539150 PMID:31795264 PMID:31983221 PMID:32295525 PMID:32934002 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  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 2J 1
Path 2
Term Annotations click to browse term
  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 2J 1
paths to the root