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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    Developmental Diseases 7628
      bone development disease 891
        dysostosis 233
          Cenani-Lenz syndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              dysostosis 233
                synostosis 148
                  syndactyly 41
                    Cenani-Lenz syndactyly syndrome 1
paths to the root