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;   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 Mybpc1 myosin binding protein C, slow type JBrowse link 7 29,086,159 29,171,909 RGD:8554872
RGD:13592920
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:13592920
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:13592920
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:13592920
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
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:13592920
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, 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 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 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
RGD:12792960
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:7240710
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 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 C, slow type JBrowse link 7 29,086,159 29,171,909 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, 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:7240710
RGD:8554872
Gordon Syndrome 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
Hecht Syndrome 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:12914760
RGD:8554872
Oculomelic Amyoplasia 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      musculoskeletal system disease 4002
        Joint Diseases 1039
          Arthrogryposis 56
            distal arthrogryposis 14
              Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 0
              Congenital Contractural Arachnodactyly 1
              Distal Arthrogryposis Multiplex Congenita, Type 1 + 6
              Distal Arthrogryposis Multiplex Congenita, Type 2 + 4
              Distal Arthrogryposis Multiplex Congenita, X-Linked 2
              Distal Arthrogryposis, Moore Weaver Type 0
              Distal Arthrogryposis, Type 10 0
              Distal Arthrogryposis, Type 4 0
              Distal Arthrogryposis, Type 5D 1
              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
              Gordon Syndrome 1
              Hecht Syndrome 1
              Oculomelic Amyoplasia 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        peripheral nervous system disease 2022
          neuropathy 1841
            neuromuscular disease 1417
              muscular disease 914
                muscle tissue disease 636
                  distal arthrogryposis 14
                    Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 0
                    Congenital Contractural Arachnodactyly 1
                    Distal Arthrogryposis Multiplex Congenita, Type 1 + 6
                    Distal Arthrogryposis Multiplex Congenita, Type 2 + 4
                    Distal Arthrogryposis Multiplex Congenita, X-Linked 2
                    Distal Arthrogryposis, Moore Weaver Type 0
                    Distal Arthrogryposis, Type 10 0
                    Distal Arthrogryposis, Type 4 0
                    Distal Arthrogryposis, Type 5D 1
                    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
                    Gordon Syndrome 1
                    Hecht Syndrome 1
                    Oculomelic Amyoplasia 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.