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Cornelia de Lange syndrome 6 - Ontology Report - Rat Genome Database

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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 6
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Accession:DOID:0060970 term browser browse the term
Definition:A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: CDLS6
 broad_synonym: BRD4-RELATED CONDITION
 alt_id: DOID:9006093
 xref: MIM:620568;   MONDO:0957921

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Cornelia de Lange syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd4 bromodomain containing 4 ISO ClinVar Annotator: match by term: BRD4-related condition | ClinVar Annotator: match by term: Cornelia de Lange syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29379197 PMID:35470444 NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Cornelia de Lange syndrome 50
        Cornelia de Lange syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              developmental disorder of mental health 5654
                specific developmental disorder 4621
                  intellectual disability 4391
                    Cornelia de Lange syndrome 50
                      Cornelia de Lange syndrome 6 1
paths to the root