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ONTOLOGY REPORT - ANNOTATIONS


Term:lethal congenital contracture syndrome 3
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Accession:DOID:0060653 term browser browse the term
Definition:A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: LCCS3;   multiple contractural syndrome, Israeli Bedouin type B;   multiple contracture syndrome, Israeli Bedouin type B
 primary_id: MESH:C566961
 alt_id: OMIM:611369;   RDO:0015162
 xref: ORDO:137783
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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

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 3 1
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
                muscle tissue disease 613
                  myopathy 494
                    muscular atrophy 78
                      lethal congenital contracture syndrome 3 1
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