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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
 broad_synonym: MYRF-RELATED CONDITION
 primary_id: OMIM:618280
 xref: EFO:0010645


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 | ClinVar Annotator: match by term: MYRF-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:28492532 PMID:29446546 PMID:30070761 More... NCBI chr11:57,052,219...57,088,105
Ensembl chr11:60,412,780...60,448,579 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      Cardiac-Urogenital Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        Congenital Abnormalities 7497
          Cardiovascular Abnormalities 1534
            congenital heart disease 1343
              Cardiac-Urogenital Syndrome 1
paths to the root