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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   syndactyly, Cenani-Lenz type
 primary_id: MESH:C538150
 alt_id: OMIM:212780
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7 OMIM
ClinVar		 PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 More... NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      bone development disease 2282
        dysostosis 570
          Cenani-Lenz syndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      Skin and Connective Tissue Diseases 7433
        connective tissue disease 5734
          bone disease 4262
            bone development disease 2282
              dysostosis 570
                synostosis 381
                  syndactyly 155
                    Cenani-Lenz syndactyly syndrome 1
paths to the root