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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: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 6:47,339,759...47,458,457 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    physical disorder 2359
      congenital muscular dystrophy 70
        arthrogryposis due to muscular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9973
        peripheral nervous system disease 2315
          neuropathy 2154
            neuromuscular disease 1698
              muscular disease 1116
                muscle tissue disease 750
                  atrophic muscular disease 293
                    muscular dystrophy 291
                      congenital muscular dystrophy 70
                        arthrogryposis due to muscular dystrophy 1
paths to the root