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Gilbert syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Gilbert syndrome
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Accession:EFO:0005556 term browser browse the term
Definition:An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.
Synonyms:exact_synonym: Constitutional hyperbilirubinemia;   DOID:2739;   Gilbert Disease;   Gilbert's disease;   Gilbert's syndrome;   Gilbert-Meulengracht syndrome;   NCIT:C84729;   familial cholemia;   hereditary nonhemolytic jaundice;   http://identifiers.org/medgen/4891;   http://identifiers.org/mesh/D005878;   http://identifiers.org/snomedct/27503000;   http://linkedlifedata.com/resource/umls/id/C0017551;   http://purl.bioontology.org/ontology/ICD10CM/E80.4;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1947520963;   https://omim.org/entry/143500;   hyperbilirubinemia type 1
 related_synonym: hyperbilirubinemia 1;   hyperbilirubinemia, Arias type;   hyperbilirubinemia, Gilbert type
 xref: DOID:2739;   ICD10CM:E80.4;   MEDGEN:4891;   MESH:D005878;   MIM:143500;   MONDO:0007745;   NCI:C84729;   ORDO:357;   SCTID:27503000;   UMLS:C0017551;   icd11.foundation:1947520963
 external_ontology: located_in EFO:CHEBI:16990

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            Gilbert syndrome 0
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            inborn errors of metabolism 0
              inborn disorder of porphyrin metabolism 0
                inborn disorder of bilirubin metabolism 0
                  hereditary hyperbilirubinemia 0
                    Gilbert syndrome 0
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