Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
expand
Hyperbilirubinemia (HP:0002904)help
..Starting node
..expand
Unconjugated hyperbilirubinemia (HP:0008282)help
Term ID: 8282
Name: Unconjugated hyperbilirubinemia
Synonym:
Definition: An increased amount of unconjugated (indirect) bilurubin in the blood.
Comments:
Reference: HP:0008282
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandConjugated hyperbilirubinemia (HP:0002908) help
..expandIncreased total bilirubin (HP:0003573) help
..expandNeonatal hyperbilirubinemia (HP:0003265) help
..expandNeonatal unconjugated hyperbilirubinemia (HP:0008176) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency118
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency101
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent29
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0HBB CL E G H30434827ORPHA:232Sickle cell anemiaHP:0040283 - Occasional580
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040282 - Frequent46
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0PKLR CL E G H53139020ORPHA:766Hemolytic anemia due to red cell pyruvate kinase deficiencyHP:0040281 - Very frequent51
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells.51
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0RHAG CL E G H600510006OMIM:268150Anemia, hemolytic, Rh-null, Regulator type.13
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0UGT1A1 CL E G H5465812530ORPHA:79234Crigler-Najjar syndrome type 1HP:0040281 - Very frequent73
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0UGT1A1 CL E G H5465812530ORPHA:79235Crigler-Najjar syndrome type 2HP:0040281 - Very frequent73
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0UGT1A1 CL E G H5465812530OMIM:218800Crigler-Najjar syndrome, type I73
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0UGT1A1 CL E G H5465812530OMIM:606785Crigler-najjar syndrome, type II.73
HP:0008282HP:0008282Unconjugated hyperbilirubinemia0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent41


Genes (13) :CASK FARSB G6PD GATA1 HBB KLF1 NHLRC2 PIGA PKLR RHAG SLC30A10 UGT1A1 UROS

Diseases (15) :OMIM:300908 OMIM:613658 ORPHA:79277 ORPHA:232 OMIM:613673 OMIM:618278 ORPHA:447 ORPHA:766 OMIM:266200 OMIM:268150 OMIM:613280 ORPHA:79234 ORPHA:79235 OMIM:218800 OMIM:606785
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.