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RGD uses the Human Disease Ontology (DO, 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:arthrogryposis due to muscular dystrophy
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Accession:DOID:0110631 term browser browse the term
Definition:A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. (DO)
Synonyms:exact_synonym: congenital muscular dystrophy producing arthrogryposis;   muscular dystrophy and arthrogryposis
 primary_id: MESH:C564985
 alt_id: OMIM:253900
 xref: GARD:779;   ICD10CM:M62.8;   ORDO:1155
For additional species annotation, visit the Alliance of Genome Resources.

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arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital muscular dystrophy 71
        arthrogryposis due to muscular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  atrophic muscular disease 314
                    muscular dystrophy 312
                      congenital muscular dystrophy 71
                        arthrogryposis due to muscular dystrophy 1
paths to the root