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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: OMIM:300590
For additional species annotation, visit the Alliance of Genome Resources.



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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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Cornelia de Lange syndrome 21
        Cornelia de Lange syndrome 2 4
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
                      Cornelia de Lange syndrome 2 4
paths to the root