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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: MIM:618280
 xref: EFO:0010645


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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:28492532 PMID:29446546 PMID:30070761 PMID:30532227 More... 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 19099
    syndrome 11271
      Cardiac-Urogenital Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      respiratory system disease 5241
        thoracic disease 4049
          heart disease 3473
            congenital heart disease 1404
              Cardiac-Urogenital Syndrome 1
paths to the root