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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
 xref: GARD:5084;   MESH:C538150;   MIM:212780;   MONDO:0008931;   ORDO:3258


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7
ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII | ClinVar Annotator: match by term: Syndactyly type 7		 OMIM
CTD
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 19087
    Developmental Disease 14584
      bone development disease 2369
        dysostosis 630
          Cenani-Lenz syndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      Skin and Connective Tissue Diseases 7696
        connective tissue disease 5945
          bone disease 4399
            bone development disease 2369
              dysostosis 630
                synostosis 396
                  syndactyly 150
                    Cenani-Lenz syndactyly syndrome 1
paths to the root