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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 15590
    syndrome 5131
      lethal congenital contracture syndrome 12
        lethal congenital contracture syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        peripheral nervous system disease 2111
          neuropathy 1933
            neuromuscular disease 1504
              muscular disease 941
                muscle tissue disease 667
                  myopathy 546
                    muscular atrophy 78
                      lethal congenital contracture syndrome 3 1
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