Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Hyperbilirubinemia (HP:0002904)help
..Starting node
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Increased total bilirubin (HP:0003573)help
Term ID: 3573
Name: Increased total bilirubin
Synonym: High bili total; Increased bilirubin
Definition: Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
Comments:
Reference: HP:0003573
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandConjugated hyperbilirubinemia (HP:0002908) help
..expandNeonatal hyperbilirubinemia (HP:0003265) help
..expandNeonatal unconjugated hyperbilirubinemia (HP:0008176) help
..expandUnconjugated hyperbilirubinemia (HP:0008282) 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:0003573HP:0003573Increased total bilirubin0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0003573HP:0003573Increased total bilirubin0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0003573HP:0003573Increased total bilirubin0KCNN4 CL E G H37836293ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent3
HP:0003573HP:0003573Increased total bilirubin0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0003573HP:0003573Increased total bilirubin0LRP5 CL E G H40416697ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional125
HP:0003573HP:0003573Increased total bilirubin0MYO5B CL E G H46457603OMIM:619868192
HP:0003573HP:0003573Increased total bilirubin0PFKM CL E G H52138877OMIM:232800Glycogen storage disease VII.64
HP:0003573HP:0003573Increased total bilirubin0PIEZO1 CL E G H978028993ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent36
HP:0003573HP:0003573Increased total bilirubin0POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type).45
HP:0003573HP:0003573Increased total bilirubin0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0003573HP:0003573Increased total bilirubin0PRKCSH CL E G H55899411ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional63
HP:0003573HP:0003573Increased total bilirubin0PRKCSH CL E G H55899411OMIM:174050Polycystic liver disease 1 with or without kidney cysts.63
HP:0003573HP:0003573Increased total bilirubin0SEC63 CL E G H1123121082ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional137
HP:0003573HP:0003573Increased total bilirubin0SLC4A1 CL E G H652111027ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent109
HP:0003573HP:0003573Increased total bilirubin0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166


Genes (14) :CPT2 DCDC2 KCNN4 LIPT1 LRP5 MYO5B PFKM PIEZO1 POLG2 PRF1 PRKCSH SEC63 SLC4A1 TMEM67

Diseases (10) :OMIM:608836 ORPHA:84081 ORPHA:3202 OMIM:616299 ORPHA:2924 OMIM:619868 OMIM:232800 OMIM:618528 OMIM:603553 OMIM:174050
 

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