Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 2B3
go back to main search page
Accession:DOID:0111602 term browser browse the term
Definition:A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: DA2B3;   distal arthrogryposis type 2B3 (Sheldon-Hall)
 primary_id: OMIM:618436
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
distal arthrogryposis type 2B3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 OMIM
ClinVar
PMID:16642020 PMID:18695058 PMID:25741868 PMID:28492532 PMID:29625835 PMID:29805041 PMID:30826400 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal dominant disease 3032
                distal arthrogryposis type 2B3 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        peripheral nervous system disease 2425
          neuropathy 2241
            neuromuscular disease 1763
              muscular disease 1168
                Arthrogryposis 94
                  distal arthrogryposis 20
                    Distal Arthrogryposis Type 2 4
                      distal arthrogryposis type 2B 4
                        distal arthrogryposis type 2B3 1
paths to the root