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RGD uses the Human Disease Ontology (DO, 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:Cornelia de Lange syndrome 3
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Accession:DOID:0080507 term browser browse the term
Definition:A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. (DO)
Synonyms:exact_synonym: CDLS3;   Cornelia De Lange syndrome 3 with or without midline brain defects
 primary_id: OMIM:610759
For additional species annotation, visit the Alliance of Genome Resources.

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Cornelia de Lange syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc3 structural maintenance of chromosomes 3 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 ClinVar
PMID:18414213, PMID:24088041, PMID:25125236, PMID:25574841, PMID:25655089, PMID:25741868, PMID:25741869, PMID:26467025, PMID:26633545, PMID:28492532, PMID:30158690, PMID:31334757 NCBI chr 1:274,310,120...274,352,856
Ensembl chr 1:274,309,758...274,352,854
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Cornelia de Lange syndrome 17
        Cornelia de Lange syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Cornelia de Lange syndrome 17
                      Cornelia de Lange syndrome 3 1
paths to the root


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