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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 5
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Accession:DOID:0080509 term browser browse the term
Definition:A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13. (DO)
Synonyms:exact_synonym: CDLS5;   HDAC8-RELATED CONDITION
 primary_id: MIM:300882


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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:71,861,910...71,892,508
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:71,936,907...71,944,116
Ensembl chr  X:67,896,974...67,904,182 		JBrowse link
G Hdac8 histone deacetylase 8 ISO
ISS		 DNA:missense mutations, deletions, duplication:multiple (human)
DNA:snp:intron:c.164+5G>A (human)
OMIM:300882
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 | ClinVar Annotator: match by term: HDAC8-related condition		 OMIM
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19605684 More... RGD:11068490, RGD:13208817 NCBI chr  X:71,425,240...71,632,865
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:72,239,849...72,242,247
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:68,023,845...68,026,508 JBrowse link
G Pabpc1l2b poly(A) binding protein cytoplasmic 1 like 2B ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048
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:71,639,701...71,778,465
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 19141
    syndrome 11372
      Cornelia de Lange syndrome 49
        Cornelia de Lange syndrome 5 7
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  intellectual disability 4383
                    Cornelia de Lange syndrome 49
                      Cornelia de Lange syndrome 5 7
paths to the root