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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:Cardiac-Urogenital Syndrome
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Accession:DOID:9007788 term browser browse the term
Synonyms:exact_synonym: CUGS
 primary_id: OMIM:618280
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Cardiac-Urogenital Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: CARDIAC-UROGENITAL SYNDROME OMIM
ClinVar
PMID:25741868 PMID:29446546 PMID:30070761 PMID:30532227 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Cardiac-Urogenital Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        Congenital Abnormalities 5588
          Cardiovascular Abnormalities 1138
            congenital heart disease 1080
              Cardiac-Urogenital Syndrome 1
paths to the root