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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 2
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Accession:DOID:0080506 term browser browse the term
Definition:A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. (DO)
Synonyms:exact_synonym: CDLS2
 broad_synonym: Cornelia de Lange syndrome, X-linked;   SMC1A-RELATED COHESINOPATHY;   X-linked CDLS
 related_synonym: CONGENITAL MUSCULAR HYPERTROPHY-CEREBRAL SYNDROME
 primary_id: MIM:300590



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Cornelia de Lange syndrome 2 term browser
Symbol Object Name 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 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:22,914,943...22,937,713 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 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 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 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 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:24,350,708...24,480,798 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 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 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 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 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 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 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 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:22,936,038...22,989,691 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 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 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:24,582,732...24,627,462 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 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 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:23,599,278...23,742,290 JBrowse link

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Path 1
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  disease 19139
    syndrome 11370
      Cornelia de Lange syndrome 49
        Cornelia de Lange syndrome 2 21
Path 2
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  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    Cornelia de Lange syndrome 49
                      Cornelia de Lange syndrome 2 21
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