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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 1
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Accession:DOID:0080505 term browser browse the term
Definition:A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. (DO)
Synonyms:exact_synonym: CDLS1;   NIPBL-RELATED CONDITION
 primary_id: OMIM:122470


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Cornelia de Lange syndrome 1 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: Cornelia de Lange syndrome 1 ClinVar PMID:25741868 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:28492532 NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:25741868 PMID:26671848 PMID:30158690 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:25574841 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO
ISS		 OMIM:122470
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar Annotator: match by term: NIPBL-related condition		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:11391654 PMID:15146185 PMID:15146186 PMID:15318302 More... NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899 		JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:28492532 NCBI chr 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:28492532 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056 		JBrowse link
G Smc3 structural maintenance of chromosomes 3 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar NCBI chr 1:252,601,422...252,644,522
Ensembl chr 1:252,601,753...252,644,522 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:25574841 NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Cornelia de Lange syndrome 48
        Cornelia de Lange syndrome 1 9
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    Cornelia de Lange syndrome 48
                      Cornelia de Lange syndrome 1 9
paths to the root