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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: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
OMIM
PMID:18414213 PMID:24088041 PMID:25125236 PMID:25574841 PMID:25655089 More... NCBI chr 1:252,601,422...252,644,522
Ensembl chr 1:252,601,753...252,644,522
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Cornelia de Lange syndrome 16
        Cornelia de Lange syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Cornelia de Lange syndrome 16
                      Cornelia de Lange syndrome 3 1
paths to the root