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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:distal arthrogryposis type 2A
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Accession:DOID:0111605 term browser browse the term
Definition:A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: DA2A;   distal arthrogryposis type 2A (Freeman-Sheldon)
 primary_id: OMIM:193700


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distal arthrogryposis type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 PMID:25741868 More... NCBI chr11:66,969,101...66,993,117
Ensembl chr11:66,969,126...66,993,112 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      Freeman-Sheldon syndrome 1
        distal arthrogryposis type 2A 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      musculoskeletal system disease 7930
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2297
              dysostosis 578
                synostosis 377
                  craniosynostosis 319
                    Crouzon syndrome 31
                      Freeman-Sheldon syndrome 1
                        distal arthrogryposis type 2A 1
paths to the root