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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:Hyperbiliverdinemia
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Accession:DOID:9008068 term browser browse the term
Synonyms:exact_synonym: GREEN JAUNDICE;   HBLVD
 primary_id: OMIM:614156


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Hyperbiliverdinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blvra biliverdin reductase A ISO ClinVar Annotator: match by term: Hyperbiliverdinemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19580635 PMID:21278388 PMID:25741868 NCBI chr 2:126,912,549...126,939,004
Ensembl chr 2:126,912,585...126,939,004 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Skin Manifestations 133
          Jaundice 40
            Hyperbiliverdinemia 1
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          inherited metabolic disorder 5665
            bilirubin metabolic disorder 65
              Jaundice 40
                Hyperbiliverdinemia 1
paths to the root