ONTOLOGY REPORT - ANNOTATIONS


Term:lethal congenital contracture syndrome 2
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Accession:DOID:0060560 term browser browse the term
Definition:A lethal congenital contracture syndrome that can be that has material basis in homozygous mutation in the ERBB3 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: LCCS2;   multiple contracture syndrome, Israeli Bedouin type A;   multiple contracture syndrome, Israeli-Bedouin type
 primary_id: MESH:C564369
 alt_id: OMIM:607598;   RDO:0013360
 xref: GARD:9177;   ORDO:137776
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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

Term paths to the root
Path 1
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  disease 14926
    syndrome 4715
      lethal congenital contracture syndrome 14
        lethal congenital contracture syndrome 2 1
Path 2
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  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                Arthrogryposis 57
                  lethal congenital contracture syndrome 14
                    lethal congenital contracture syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.