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ONTOLOGY REPORT - ANNOTATIONS


Term:Cenani-Lenz syndactyly syndrome
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Accession:DOID:0090015 term browser browse the term
Definition:A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: CLSS;   Cenani syndactylism;   Cenani-Lenz Syndactyly;   Syndactyly type 7;   Syndactyly, Type VII
 primary_id: MESH:C538150
 alt_id: OMIM:212780;   RDO:0004087
 xref: GARD:5084;   ORDO:3258
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Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      bone development disease 1001
        dysostosis 307
          Cenani-Lenz syndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2790
          bone disease 2242
            bone development disease 1001
              dysostosis 307
                synostosis 203
                  syndactyly 42
                    Cenani-Lenz syndactyly syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.