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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;   RDO:0015057
 xref: GARD:1237
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by OMIM:169100
ClinVar Annotator: match by term: Char syndrome
OMIM
ClinVar
PMID:7645594, PMID:8326495, PMID:10368122, PMID:10802654, PMID:10955477, PMID:11505339, PMID:15684060, PMID:21643846, PMID:25741868, PMID:29555671 NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Char syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        Congenital Abnormalities 4791
          Cardiovascular Abnormalities 1128
            congenital heart disease 1073
              patent ductus arteriosus 22
                Char syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.