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ONTOLOGY REPORT - ANNOTATIONS


Term:lethal congenital contracture syndrome
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Accession:DOID:0060558 term browser browse the term
Definition:A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. (DO)
Synonyms:primary_id: RDO:9004774
 xref: GARD:12643;   OMIM:PS253310;   ORDO:294965
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lethal congenital contracture syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:8554872
lethal congenital contracture syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:7240710
RGD:8554872
RGD:11554173
Lethal Congenital Contracture Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:7240710
Lethal Congenital Contracture Syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gldn gliomedin JBrowse link 8 58,870,516 58,914,605 RGD:8554872
RGD:7240710
lethal congenital contracture syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erbb3 erb-b2 receptor tyrosine kinase 3 JBrowse link 7 2,989,202 3,010,610 RGD:7240710
RGD:8554872
lethal congenital contracture syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma JBrowse link 7 11,267,207 11,294,291 RGD:7240710
RGD:8554872
lethal congenital contracture syndrome 4 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
Lethal Congenital Contracture Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872
Lethal Congenital Contracture Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb42 zinc finger and BTB domain containing 42 JBrowse link 6 137,238,899 137,247,115 RGD:7240710
RGD:8554872
Lethal Congenital Contracture Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cntnap1 contactin associated protein 1 JBrowse link 10 89,087,904 89,103,615 RGD:8554872
RGD:7240710
Lethal Congenital Contracture Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy6 adenylate cyclase 6 JBrowse link 7 140,270,678 140,291,722 RGD:8554872
RGD:7240710
G Tex49 testis expressed 49 JBrowse link 7 140,248,852 140,270,340 RGD:8554872
Lethal Congenital Contracture Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrg6 adhesion G protein-coupled receptor G6 JBrowse link 1 8,593,342 8,751,540 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      lethal congenital contracture syndrome 13
        Lethal Congenital Contracture Syndrome 10 1
        Lethal Congenital Contracture Syndrome 11 1
        Lethal Congenital Contracture Syndrome 5 1
        Lethal Congenital Contracture Syndrome 6 1
        Lethal Congenital Contracture Syndrome 7 2
        Lethal Congenital Contracture Syndrome 8 2
        Lethal Congenital Contracture Syndrome 9 1
        lethal congenital contracture syndrome 1 1
        lethal congenital contracture syndrome 2 1
        lethal congenital contracture syndrome 3 1
        lethal congenital contracture syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                Arthrogryposis 53
                  lethal congenital contracture syndrome 13
                    Lethal Congenital Contracture Syndrome 10 1
                    Lethal Congenital Contracture Syndrome 11 1
                    Lethal Congenital Contracture Syndrome 5 1
                    Lethal Congenital Contracture Syndrome 6 1
                    Lethal Congenital Contracture Syndrome 7 2
                    Lethal Congenital Contracture Syndrome 8 2
                    Lethal Congenital Contracture Syndrome 9 1
                    lethal congenital contracture syndrome 1 1
                    lethal congenital contracture syndrome 2 1
                    lethal congenital contracture syndrome 3 1
                    lethal congenital contracture syndrome 4 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.