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ONTOLOGY REPORT - ANNOTATIONS


Term:Distal Arthrogryposis, Type 1A
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Accession:DOID:9007315 term browser browse the term
Definition:In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Distal arthrogryposis type 1A (DA1A) and type 2B4 (DA2B4) are caused by heterozygous mutation in the TPM2 gene on chromosome 9p13. (OMIM)
Synonyms:exact_synonym: DA1A
 primary_id: OMIM:108120
 alt_id: RDO:0007884
For additional species annotation, visit the Alliance of Genome Resources.


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Distal Arthrogryposis, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap1 contactin associated protein 1 JBrowse link 10 89,087,904 89,103,615 RGD:8554872
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        Joint Diseases 1056
          Arthrogryposis 53
            distal arthrogryposis 15
              Distal Arthrogryposis Multiplex Congenita, Type 1 6
                Distal Arthrogryposis, Type 1A 5
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  distal arthrogryposis 15
                    Distal Arthrogryposis Multiplex Congenita, Type 1 6
                      Distal Arthrogryposis, Type 1A 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.