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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
 primary_id: OMIM:122470
For additional species annotation, visit the Alliance of Genome Resources.


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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 Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:18414213 PMID:20824775 PMID:23254390 PMID:24689074 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:25741868 PMID:26671848 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:25574841 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar
OMIM
PMID:11391654 PMID:15146185 PMID:15146186 PMID:15318302 PMID:15591270 PMID:16100726 PMID:16236812 PMID:17106445 PMID:17221863 PMID:17661813 PMID:18414213 PMID:19763162 PMID:20358602 PMID:20824775 PMID:22581668 PMID:22857006 PMID:23254390 PMID:23505322 PMID:23760082 PMID:24038889 PMID:24218399 PMID:24635725 PMID:24689074 PMID:24759409 PMID:24874887 PMID:24918291 PMID:25447906 PMID:25574841 PMID:25741868 PMID:25991456 PMID:26467025 PMID:26597256 PMID:26701315 PMID:26725122 PMID:26925417 PMID:26938784 PMID:28492532 PMID:28588001 PMID:29159939 PMID:29348408 PMID:29995837 PMID:30158690 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
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 chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Cornelia de Lange syndrome 17
        Cornelia de Lange syndrome 1 5
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    Cornelia de Lange syndrome 17
                      Cornelia de Lange syndrome 1 5
paths to the root