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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 OMIM:212780
ClinVar Annotator: match by term: Syndactyly Cenani Lenz type
ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII
ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome
OMIM
ClinVar
PMID:7891385, PMID:9182770, PMID:10756427, PMID:11260233, PMID:12868467, PMID:14577675, PMID:18978656, PMID:20381006, PMID:21471202, PMID:24234652, PMID:25119311, PMID:25741868, PMID:26751728, PMID:28492532, PMID:28559208 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        dysostosis 342
          Cenani-Lenz syndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              dysostosis 342
                synostosis 229
                  syndactyly 58
                    Cenani-Lenz syndactyly syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.