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
TERM
Jaundice
CHILD terms
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 | 215156![]() |
5,- | Mexican | Cholestasis,Jaundice | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
104392 | F | 215520![]() |
0 | French | Cholestasis | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104398 | M | 215522![]() |
- | Czech | Jaundice | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36932076 [P3(II.1)] |
104671 | F | 215568![]() |
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 | 215701![]() |
-,- | 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 | 216189![]() |
41 | Caucasian | Cholestasis | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.2(773)]; PMID:38423196 [Fam.1:II.2(P2)] |
107118 | F | 216340![]() |
- | 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).