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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.



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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
ClinVar Annotator: match by term: De Lange syndrome
CTD
ClinVar
PMID:25741868 PMID:29379197 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brachmann de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome | ClinVar Annotator: match by term: Typus degenerativus amstelodamensis
CTD
ClinVar
PMID:15318302 PMID:17661813 PMID:18414213 PMID:19763162 PMID:19886366 More... NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
JBrowse link
G Pds5a PDS5 cohesin associated factor A ISS OMIM:122470 | OMIM:300590 | OMIM:300882 | OMIM:610759 | OMIM:614701 MouseDO NCBI chr14:42,551,653...42,651,074
Ensembl chr14:42,552,647...42,648,669
JBrowse link
G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: De Lange syndrome
CTD
ClinVar
NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cornelia de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome
CTD
ClinVar
PMID:18414213 PMID:25741868 PMID:26467025 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 | ClinVar Annotator: match by term: De Lange syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:252,601,422...252,644,522
Ensembl chr 1:252,601,753...252,644,522
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 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 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 OMIM
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 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
Cornelia de Lange syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 ClinVar PMID:28492532 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 ClinVar PMID:19052029 PMID:23683030 PMID:28492532 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
JBrowse link
G Ribc1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 ClinVar PMID:28492532 NCBI chr  X:21,091,717...21,103,688
Ensembl chr  X:21,091,717...21,103,200
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 Annotator: match by term: SMC1A-related cohesinopathy OMIM
ClinVar
PMID:9536098 PMID:11877377 PMID:16273072 PMID:16604071 PMID:17221863 More... NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
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 WITH OR WITHOUT MIDLINE BRAIN DEFECTS | ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24088041 PMID:25125236 More... NCBI chr 1:252,601,422...252,644,522
Ensembl chr 1:252,601,753...252,644,522
JBrowse link
Cornelia de Lange syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 ClinVar PMID:28492532 NCBI chr 7:83,091,045...83,174,436
Ensembl chr 7:83,091,039...83,174,451
JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS | ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 OMIM
ClinVar
PMID:18414213 PMID:22633399 PMID:24378232 PMID:25326637 PMID:25741868 More... NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 ClinVar PMID:28492532 NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655
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:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571
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:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182
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)
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19605684 More... RGD:13208817, RGD:11068490 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
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:68,174,051...68,176,449
Ensembl chr  X:68,173,987...68,176,666
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:68,023,977...68,026,508 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:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Cornelia de Lange syndrome 21
        Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 0
        Cornelia de Lange syndrome 1 8
        Cornelia de Lange syndrome 2 4
        Cornelia de Lange syndrome 3 1
        Cornelia de Lange syndrome 4 3
        Cornelia de Lange syndrome 5 6
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3878
                    Cornelia de Lange syndrome 21
                      Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 0
                      Cornelia de Lange syndrome 1 8
                      Cornelia de Lange syndrome 2 4
                      Cornelia de Lange syndrome 3 1
                      Cornelia de Lange syndrome 4 3
                      Cornelia de Lange syndrome 5 6
paths to the root