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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;   MIM:PS122470;   NCI:C75016;   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 Qualifiers 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 PMID:34035299 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 severity 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
DNA:mutations:cds:		 CTD
ClinVar
RGD		 PMID:15318302 PMID:16199547 PMID:16236812 PMID:17661813 PMID:18414213 More... RGD:155630600, RGD:155630599, RGD:155630598 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: 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 Qualifiers 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:19052029 PMID:24689074 PMID:28492532 PMID:36093091 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		 ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar Annotator: match by term: NIPBL-related condition
OMIM:122470		 OMIM
ClinVar
MouseDO		 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 Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:19052029 PMID:28492532 NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605 		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
Cornelia de Lange syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439 		JBrowse link
G Fam120c family with sequence similarity 120 member C ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:20,324,046...20,477,831
Ensembl chr  X:20,323,381...20,477,275 		JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:20,023,746...20,066,734
Ensembl chr  X:20,023,746...20,066,566 		JBrowse link
G Gnl3l G protein nucleolar 3 like ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:19,961,277...19,994,454
Ensembl chr  X:19,958,603...19,994,508 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262 		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:26386245 PMID:27334371 PMID:28166369 More... NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584 		JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:19,753,322...19,790,381
Ensembl chr  X:19,753,625...19,789,500 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870 		JBrowse link
G LOC120099525 small nucleolar RNA SNORA11 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:19,735,030...19,735,144
Ensembl chr  X:19,735,030...19,735,144 		JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477 		JBrowse link
G Mir98 microRNA 98 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:20,981,235...20,981,342
Ensembl chr  X:20,981,235...20,981,342 		JBrowse link
G Mirlet7f2 microRNA let-7f-2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:20,980,632...20,980,714
Ensembl chr  X:20,980,632...20,980,714 		JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182 		JBrowse link
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:20,524,103...20,623,459
Ensembl chr  X:20,524,558...20,623,410 		JBrowse link
G Ribc1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... 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: Cornelia de Lange syndrome 2 | ClinVar Annotator: match by term: SMC1A-related cohesinopathy OMIM
ClinVar		 PMID:9536098 PMID:11532960 PMID:11877377 PMID:16199547 PMID:16273072 More... NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056 		JBrowse link
G Tro trophinin ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:19,563,395...19,574,507
Ensembl chr  X:19,563,517...19,572,953 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620 		JBrowse link
G Wnk3 WNK lysine deficient protein kinase 3 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:20,156,260...20,299,252
Ensembl chr  X:20,157,041...20,296,821 		JBrowse link
Cornelia de Lange syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 ClinVar PMID:28492532 NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124 		JBrowse link
G Adra2a adrenoceptor alpha 2A ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 ClinVar PMID:28492532 NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365 		JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 ClinVar PMID:28492532 NCBI chr 1:252,943,589...252,959,512
Ensembl chr 1:252,945,557...252,959,352 		JBrowse link
G Dusp5 dual specificity phosphatase 5 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 ClinVar PMID:28492532 NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818 		JBrowse link
G Mxi1 MAX interactor 1, dimerization protein ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 ClinVar PMID:28492532 NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:252,323,303...252,383,681 		JBrowse link
G Pdcd4 programmed cell death 4 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 ClinVar PMID:28492532 NCBI chr 1:252,921,342...252,944,278
Ensembl chr 1:252,921,392...252,944,275 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 ClinVar PMID:28492532 NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 ClinVar PMID:28492532 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Smc3 structural maintenance of chromosomes 3 ISO
ISS		 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:610759		 OMIM
ClinVar
MouseDO		 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
G Smndc1 survival motor neuron domain containing 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 ClinVar PMID:28492532 NCBI chr 1:252,389,675...252,400,749
Ensembl chr 1:252,389,673...252,401,616 		JBrowse link
Cornelia de Lange syndrome 4 term browser
Symbol Object Name Qualifiers 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 7:83,091,037...83,174,451
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 | ClinVar Annotator: match by term: RAD21-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22633399 PMID:24378232 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 Qualifiers 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
ISS		 ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 | ClinVar Annotator: match by term: HDAC8-related condition
OMIM:300882
DNA:snp:intron:c.164+5G>A (human)
DNA:missense mutations, deletions, duplication:multiple (human)		 OMIM
ClinVar
MouseDO
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:68,023,845...68,026,508 JBrowse link
G Pabpc1l2b poly(A) binding protein cytoplasmic 1 like 2B ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048
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
Cornelia de Lange syndrome 6 term browser
Symbol Object Name Qualifiers 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 6 OMIM
ClinVar		 PMID:25741868 PMID:29379197 PMID:35470444 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      Cornelia de Lange syndrome 49
        Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 0
        Cornelia de Lange syndrome 1 10
        Cornelia de Lange syndrome 2 21
        Cornelia de Lange syndrome 3 10
        Cornelia de Lange syndrome 4 3
        Cornelia de Lange syndrome 5 7
        Cornelia de Lange syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    Cornelia de Lange syndrome 49
                      Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 0
                      Cornelia de Lange syndrome 1 10
                      Cornelia de Lange syndrome 2 21
                      Cornelia de Lange syndrome 3 10
                      Cornelia de Lange syndrome 4 3
                      Cornelia de Lange syndrome 5 7
                      Cornelia de Lange syndrome 6 1
paths to the root