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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:YUKSEL-VOGEL-BAUER SYNDROME
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Accession:DOID:9008448 term browser browse the term
Definition:This disease is a multisystemic disorder characterized by variable congenital defects involving the brain, kidney, heart, and/or skeletal system.
Synonyms:exact_synonym: YUVOB
 primary_id: OMIM:620703


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YUKSEL-VOGEL-BAUER SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlg5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Yuksel-Vogel-Bauer syndrome OMIM
ClinVar		 PMID:30791088 PMID:32631816 NCBI chr15:75,786...209,735
Ensembl chr15:75,786...187,837 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      YUKSEL-VOGEL-BAUER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        Congenital Abnormalities 7578
          Multiple Abnormalities 3686
            YUKSEL-VOGEL-BAUER SYNDROME 1
paths to the root