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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 2B1
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Accession:DOID:0111600 term browser browse the term
Definition:A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. (DO)
Synonyms:exact_synonym: DA2B1;   TNNI2-RELATED CONDITION
 primary_id: MIM:601680


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distal arthrogryposis type 2B1 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: Distal arthrogryposis type 2B1 ClinVar PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:19142688 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 | ClinVar Annotator: match by term: TNNI2-related condition OMIM
ClinVar		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:23401156 PMID:23850728 More... NCBI chr 1:206,882,358...207,027,034
Ensembl chr 1:207,024,416...207,027,038 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:207,082,014...207,099,014
Ensembl chr 1:207,081,812...207,099,423 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:25741868 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    physical disorder 5204
      arthrogryposis multiplex congenita 265
        distal arthrogryposis 107
          Distal Arthrogryposis Type 2 4
            distal arthrogryposis type 2B 4
              distal arthrogryposis type 2B1 4
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      Skin and Connective Tissue Diseases 7790
        connective tissue disease 5925
          bone disease 4367
            bone inflammation disease 1564
              arthropathy 1543
                arthrogryposis multiplex congenita 265
                  distal arthrogryposis 107
                    Distal Arthrogryposis Type 2 4
                      distal arthrogryposis type 2B 4
                        distal arthrogryposis type 2B1 4
paths to the root