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ONTOLOGY REPORT - ANNOTATIONS


Term:distal arthrogryposis
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Accession:DOID:0050646 term browser browse the term
Definition:A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO)
Synonyms:exact_synonym: distal arthrogryposis multiplex congenita
 primary_id: RDO:9004914
 xref: GARD:786;   OMIM:PS108120;   ORDO:1147;   ORDO:97120
For additional species annotation, visit the Alliance of Genome Resources.


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distal arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:13592920
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:13592920
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:8554872
RGD:13592920
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
congenital contractural arachnodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:1300364
RGD:8554872
RGD:7240710
Distal Arthrogryposis Multiplex Congenita, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba1 ubiquitin-like modifier activating enzyme 1 JBrowse link X 1,723,135 1,745,147 RGD:7240710
RGD:8554872
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
distal arthrogryposis type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
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
distal arthrogryposis type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:7240710
RGD:8554872
distal arthrogryposis type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
distal arthrogryposis type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:11554173
RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
distal arthrogryposis type 2B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:12792960
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:7240710
distal arthrogryposis type 2B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
RGD:13592920
distal arthrogryposis type 2B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872
distal arthrogryposis type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
distal arthrogryposis type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
distal arthrogryposis type 5D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:7240710
RGD:8554872
distal arthrogryposis type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:7240710
RGD:8554872
RGD:12914760
Distal Arthrogryposis, Type 2B4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
RGD:7240710
Freeman-Sheldon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      musculoskeletal system disease 5124
        Joint Diseases 1097
          Arthrogryposis 88
            distal arthrogryposis 15
              Distal Arthrogryposis Multiplex Congenita, X-Linked 2
              Distal Arthrogryposis Type 2 + 4
              Distal Arthrogryposis, Moore Weaver Type 0
              Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 0
              Distal Arthrogryposis, with Impaired Proprioception and Touch 1
              Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 0
              Freeman-Sheldon syndrome + 1
              congenital contractural arachnodactyly 1
              distal arthrogryposis type 1 + 6
              distal arthrogryposis type 10 0
              distal arthrogryposis type 3 1
              distal arthrogryposis type 4 0
              distal arthrogryposis type 5 1
              distal arthrogryposis type 5D 1
              distal arthrogryposis type 6 0
              distal arthrogryposis type 7 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        peripheral nervous system disease 2171
          neuropathy 1996
            neuromuscular disease 1566
              muscular disease 1007
                muscle tissue disease 694
                  distal arthrogryposis 15
                    Distal Arthrogryposis Multiplex Congenita, X-Linked 2
                    Distal Arthrogryposis Type 2 + 4
                    Distal Arthrogryposis, Moore Weaver Type 0
                    Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 0
                    Distal Arthrogryposis, with Impaired Proprioception and Touch 1
                    Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 0
                    Freeman-Sheldon syndrome + 1
                    congenital contractural arachnodactyly 1
                    distal arthrogryposis type 1 + 6
                    distal arthrogryposis type 10 0
                    distal arthrogryposis type 3 1
                    distal arthrogryposis type 4 0
                    distal arthrogryposis type 5 1
                    distal arthrogryposis type 5D 1
                    distal arthrogryposis type 6 0
                    distal arthrogryposis type 7 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.