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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 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539 		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 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500 		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 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 ClinVar Annotator: match by OMIM:300590
ClinVar Annotator: match by term: Cornelia de Lange syndrome
ClinVar Annotator: match by term: Cornelia de Lange Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 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 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 1:252,601,422...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 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:18414213 PMID:20824775 PMID:23254390 PMID:24689074 PMID:25741868 More... 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 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 ClinVar
OMIM		 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 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 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:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584 		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: SMC1A-related cohesinopathy
ClinVar Annotator: match by term: Cornelia de Lange syndrome 2		 ClinVar
OMIM		 PMID:9536098 PMID:16604071 PMID:17221863 PMID:17273969 PMID:17576681 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 ClinVar
OMIM		 PMID:18414213 PMID:24088041 PMID:25125236 PMID:25574841 PMID:25655089 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 Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 4
ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
ClinVar Annotator: match by OMIM:614701		 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
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)		 ClinVar
OMIM		 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 17207
    syndrome 8126
      Cornelia de Lange syndrome 16
        Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 0
        Cornelia de Lange syndrome 1 7
        Cornelia de Lange syndrome 2 2
        Cornelia de Lange syndrome 3 1
        Cornelia de Lange syndrome 4 1
        Cornelia de Lange syndrome 5 6
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    Cornelia de Lange syndrome 16
                      Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 0
                      Cornelia de Lange syndrome 1 7
                      Cornelia de Lange syndrome 2 2
                      Cornelia de Lange syndrome 3 1
                      Cornelia de Lange syndrome 4 1
                      Cornelia de Lange syndrome 5 6
paths to the root