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ONTOLOGY REPORT - ANNOTATIONS


Term:lethal congenital contracture syndrome 1
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Accession:DOID:0060559 term browser browse the term
Definition:A lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34. (DO)
Synonyms:exact_synonym: LCCS;   LCCS1;   lethal autosomal recessive syndrome of multiple congenital contractures;   multiple contracture syndrome, Finnish type
 primary_id: MESH:C537194
 alt_id: OMIM:253310;   RDO:0002983
 xref: GARD:3227;   ORDO:1486
For additional species annotation, visit the Alliance of Genome Resources.


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lethal congenital contracture syndrome 1 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:8554872
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    syndrome 4713
      lethal congenital contracture syndrome 13
        lethal congenital contracture syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        peripheral nervous system disease 2004
          neuropathy 1820
            neuromuscular disease 1392
              muscular disease 887
                Arthrogryposis 51
                  lethal congenital contracture syndrome 13
                    lethal congenital contracture syndrome 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.