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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 3
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Accession:DOID:0080507 term browser browse the term
Definition:A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. (DO)
Synonyms:exact_synonym: CDLS3;   Cornelia De Lange syndrome 3 with or without midline brain defects
 primary_id: OMIM:610759


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Cornelia de Lange syndrome 3 term browser
Symbol Object Name 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		 OMIM:610759
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
MouseDO
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
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Cornelia de Lange syndrome 48
        Cornelia de Lange syndrome 3 10
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    Cornelia de Lange syndrome 48
                      Cornelia de Lange syndrome 3 10
paths to the root