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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:Char syndrome
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Accession:DOID:0060563 term browser browse the term
Definition:A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. (DO)
Synonyms:exact_synonym: CHAR;   Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits
 primary_id: MESH:C566815
 alt_id: OMIM:169100
 xref: GARD:1237


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Char syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfap2b transcription factor AP-2 beta ISO
ISS		 ClinVar Annotator: match by term: Char syndrome
CTD Direct Evidence: marker/mechanism
OMIM:169100		 OMIM
ClinVar
CTD
MouseDO		 PMID:2010091 PMID:7645594 PMID:8326495 PMID:10368122 PMID:10802654 More... NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Char syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Cardiovascular Abnormalities 1545
            congenital heart disease 1346
              patent ductus arteriosus 24
                Char syndrome 1
paths to the root