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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 4
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Accession:DOID:0080508 term browser browse the term
Definition:A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. (DO)
Synonyms:exact_synonym: CDLS4;   Cornelia de Lange syndrome 4 with or without midline brain defects
 broad_synonym: RAD21-RELATED CONDITION
 primary_id: OMIM:614701


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Cornelia de Lange syndrome 4 term browser
Symbol Object Name 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Cornelia de Lange syndrome 48
        Cornelia de Lange syndrome 4 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    Cornelia de Lange syndrome 48
                      Cornelia de Lange syndrome 4 3
paths to the root