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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
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Accession:DOID:11725 term browser browse the term
Definition:A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. (DO)
Synonyms:exact_synonym: BDLS;   Brachmann De Lange syndrome;   CDL;   CDLS;   X-linked CDLS;   de Lange syndrome;   de Lange's syndrome;   typus degenerativus amstelodamensis
 primary_id: MESH:D003635
 xref: GARD:10109;   NCI:C75016;   OMIM:PS122470;   ORDO:199
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Cornelia de Lange syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379197 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
ClinVar Annotator: match by term: Brachmann de Lange syndrome
ClinVar Annotator: match by term: Cornelia de Lange Syndrome
ClinVar PMID:18414213, 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 Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by OMIM:122470
ClinVar Annotator: match by term: Typus degenerativus amstelodamensis
ClinVar Annotator: match by term: Brachmann de Lange syndrome
ClinVar Annotator: match by term: Cornelia de Lange Syndrome
ClinVar Annotator: match by term: De Lange syndrome
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15318302, PMID:17661813, PMID:18414213, PMID:19763162, PMID:19886366, PMID:24038889, PMID:24918291, PMID:25741868, PMID:26467025, PMID:26597256, PMID:28492532, PMID:29379197 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Pds5a PDS5 cohesin associated factor A ISS OMIM:122470 | OMIM:300590 | OMIM:300882 | OMIM:610759 | OMIM:614701 MouseDO NCBI chr14:44,185,445...44,282,308
Ensembl chr14:44,185,446...44,280,079
JBrowse link
G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by OMIM:300590
ClinVar Annotator: match by term: Cornelia de Lange Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
G Smc3 structural maintenance of chromosomes 3 ISO ClinVar Annotator: match by OMIM:610759
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cornelia de Lange syndrome 3
ClinVar
CTD
PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:274,310,120...274,352,856
Ensembl chr 1:274,309,758...274,352,854
JBrowse link
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
Cornelia de Lange syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:19052029, PMID:23683030, PMID:28492532 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome
ClinVar Annotator: match by term: Cornelia de Lange syndrome 2
ClinVar
OMIM
PMID:7757074, PMID:16604071, PMID:17221863, PMID:17273969, PMID:18414213, PMID:18996922, PMID:19052029, PMID:19701948, PMID:19842212, PMID:20358602, PMID:20635401, PMID:22106055, PMID:22140011, PMID:23106691, PMID:23683030, PMID:24088041, PMID:24461912, PMID:24896178, PMID:25125236, PMID:25326635, PMID:25356970, PMID:25537356, PMID:25574841, PMID:25741868, PMID:26354354, PMID:26358754, PMID:26386245, PMID:26467025, PMID:26633545, PMID:26752331, PMID:27159028, PMID:27171548, PMID:27334371, PMID:28102598, PMID:28492532, PMID:28548707, PMID:30158690, PMID:30311386, PMID:32238909 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
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, PMID:25741868, PMID:25741869, PMID:26467025, PMID:26633545, PMID:28492532, PMID:30158690, PMID:31334757 NCBI chr 1:274,310,120...274,352,856
Ensembl chr 1:274,309,758...274,352,854
JBrowse link
Cornelia de Lange syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 4
ClinVar Annotator: match by OMIM:614701
OMIM
ClinVar
PMID:8812457, PMID:17640042, PMID:18414213, PMID:19886810, PMID:20159109, PMID:22633399, PMID:24038889, PMID:24378232, PMID:25125236, PMID:25209348, PMID:25326637, PMID:25741868, PMID:28492532, PMID:30125677, PMID:30158690, PMID:31334757 NCBI chr 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 ClinVar PMID:25741868 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link
Cornelia de Lange syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:72,624,660...72,654,258 JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:72,684,315...72,691,535
Ensembl chr  X:72,684,329...72,691,535
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5
DNA:snp:intron:c.164+5G>A (human)
DNA:missense mutations, deletions, duplication:multiple (human)
ClinVar
OMIM
PMID:15146185, PMID:15146186, PMID:17640042, PMID:18414213, PMID:19605684, PMID:19886810, PMID:22885700, PMID:22889856, PMID:24038889, PMID:24088041, PMID:24375697, PMID:24403048, PMID:24718998, PMID:25075551, PMID:25209348, PMID:25326635, PMID:25326637, PMID:25533962, PMID:25574841, PMID:25741868, PMID:26633545, PMID:26671848, PMID:26725122, PMID:27159028, PMID:28492532, PMID:30158690, PMID:30311386, PMID:22889856, PMID:24403048 RGD:13208817, RGD:11068490 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:73,997,274...73,999,677 JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:73,894,603...73,895,742 JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048, PMID:25741868 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Cornelia de Lange syndrome 17
        Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 0
        Cornelia de Lange syndrome 1 5
        Cornelia de Lange syndrome 2 2
        Cornelia de Lange syndrome 3 1
        Cornelia de Lange syndrome 4 2
        Cornelia de Lange syndrome 5 6
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Cornelia de Lange syndrome 17
                      Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 0
                      Cornelia de Lange syndrome 1 5
                      Cornelia de Lange syndrome 2 2
                      Cornelia de Lange syndrome 3 1
                      Cornelia de Lange syndrome 4 2
                      Cornelia de Lange syndrome 5 6
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.