Jaundice

Basic details

Preferred term: Jaundice
Alt. terms: Icterus | Jaundice | Yellow skin | Yellowing of the skin

HPO term: Jaundice
HPO code: HP:0000952

GenIA ID: 1580
Last updated on: 2021-08-02 21:50:33

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101755 M 210025 12 North American Jaundice Immunodeficiency, common variable, 8 PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)]
103542 M 215156tree icon 5,- Mexican Cholestasis,Jaundice ARPC1B deficiency PMID:36708766 [Fam.C:II.3(P5)]
104392 F 215520tree icon 0 French Cholestasis Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [Patient]
104398 M 215522tree icon - Czech Jaundice Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36932076 [P3(II.1)]
104671 F 215568tree icon 14 Lebanese Cholestasis Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.1:II.1(P1)]
104873 M 215603 0 Egyptian Jaundice Severe combined immunodeficiency 9A, T-B- PMID:30307608 [Fam.22:II.2(23)]
105103 F 215641 11 South Korean Jaundice CTLA4 haploinsufficiency with autoimmune infiltration PMID:26478010 [III.2(III.2)]
105361 F 215701tree icon -,- Pakistani Cholestasis,Jaundice Immunodeficiency 87 PMID:31308374 [Fam.A:III.3(P2)]
106892 M 216183 -,- Caucasian Jaundice,Prolonged neonatal jaundice Immunodeficiency, common variable, 17 PMID:27231034 [Fam.F1:III.3(P1.1)]
106895 M 216183 -,- Caucasian Jaundice,Prolonged neonatal jaundice Immunodeficiency, common variable, 17 PMID:27231034 [Fam.F1:III.6(P1.2)]
106942 M 216189tree icon 41 Caucasian Cholestasis NFKB1 insufficiency PMID:150198 [Fam.FW:II.2(773)]; PMID:38423196 [Fam.1:II.2(P2)]
107118 F 216340tree icon - Iranian Jaundice Autoinflammation with episodic fever and immune dysregulation PMID:38609546 [P2(II.2)]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).