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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 2B3
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Accession:DOID:0111602 term browser browse the term
Definition:A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: DA2B3;   distal arthrogryposis type 2B3 (Sheldon-Hall)
 primary_id: OMIM:618436


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distal arthrogryposis type 2B3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130060295 ATAC-STARR-seq lymphoblastoid active region 11731 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 ClinVar NCBI chr17:10,634,112...10,634,271 JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall)
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall)		 OMIM
ClinVar		 PMID:16642020 PMID:18414213 PMID:18695058 PMID:25256237 PMID:25741868 More... NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    physical disorder 7158
      arthrogryposis multiplex congenita 302
        distal arthrogryposis 124
          Distal Arthrogryposis Type 2 5
            distal arthrogryposis type 2B 5
              distal arthrogryposis type 2B3 2
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      Skin and Connective Tissue Diseases 9882
        connective tissue disease 7577
          bone disease 5734
            bone inflammation disease 1561
              arthropathy 1535
                arthrogryposis multiplex congenita 302
                  distal arthrogryposis 124
                    Distal Arthrogryposis Type 2 5
                      distal arthrogryposis type 2B 5
                        distal arthrogryposis type 2B3 2
paths to the root