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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 2B2
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Accession:DOID:0111601 term browser browse the term
Definition:A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. (DO)
Synonyms:exact_synonym: DA2B2
 primary_id: OMIM:618435


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distal arthrogryposis type 2B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 OMIM
ClinVar		 PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 More... NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      arthrogryposis multiplex congenita 241
        distal arthrogryposis 108
          Distal Arthrogryposis Type 2 4
            distal arthrogryposis type 2B 4
              distal arthrogryposis type 2B2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone inflammation disease 1494
              arthropathy 1473
                arthrogryposis multiplex congenita 241
                  distal arthrogryposis 108
                    Distal Arthrogryposis Type 2 4
                      distal arthrogryposis type 2B 4
                        distal arthrogryposis type 2B2 1
paths to the root