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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:15146185, PMID:15146186, PMID:17640042, PMID:19886810, PMID:22885700, PMID:22889856, PMID:24038889, PMID:24403048, PMID:24718998, PMID:25209348, 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:22740382, PMID:22857006, PMID:23254390, PMID:23263593, PMID:23505322, PMID:23760082, PMID:24038889, PMID:24218399, PMID:24635725, PMID:24689074, PMID:24759409, PMID:24874887, PMID:24918291, PMID:25209348, PMID:25447906, PMID:25574841, PMID:25741868, PMID:25991456, PMID:26467025, PMID:26537453, PMID:26597256, PMID:26701315, PMID:26725122, PMID:26925417, PMID:26938784, PMID:28492532, 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 16045
    syndrome 6991
      Cornelia de Lange syndrome 17
        Cornelia de Lange syndrome 1 5
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 1 5
paths to the root

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