Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:0111605 term browser browse the term
Definition:A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: DA2A;   distal arthrogryposis type 2A (Freeman-Sheldon)
 primary_id: OMIM:193700
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
distal arthrogryposis type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO OMIM NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Freeman-Sheldon syndrome 1
        distal arthrogryposis type 2A 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Skin and Connective Tissue Diseases 5811
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              dysostosis 392
                synostosis 239
                  craniosynostosis 185
                    Crouzon syndrome 24
                      Freeman-Sheldon syndrome 1
                        distal arthrogryposis type 2A 1
paths to the root