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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:Myxomatous Mitral Valve Prolapse 3
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Accession:DOID:9007938 term browser browse the term
Synonyms:exact_synonym: MITRAL VALVE PROLAPSE 3;   MMVP3;   MVP3
 primary_id: MESH:C563655
 alt_id: OMIM:610840


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Myxomatous Mitral Valve Prolapse 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dzip1 DAZ interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 3		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:31118289 NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        heart disease 3320
          heart valve disease 534
            Heart Valve Prolapse 17
              mitral valve prolapse 17
                Myxomatous Mitral Valve Prolapse 3 1
paths to the root