Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Cholestasis (HP:0001396)

Grandparent Node:
Dermatological manifestations of systemic disorders (HP:0001005)

Parent Node:
Jaundice (HP:0000952)

..Starting node
..Intermittent jaundice (HP:0001046)

Term ID:

1046

Name:

Intermittent jaundice

Synonym:

Intermittent icterus; Intermittent yellow skin; Intermittent yellowing of skin

Definition:

Jaundice that is sometimes present, sometimes not.

Comments:

Reference:

HP:0001046

Genes and Diseases:

Child Nodes:

Sister Nodes:

Prolonged neonatal jaundice (HP:0006579)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001046	HP:0001046	Intermittent jaundice	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0001046	HP:0001046	Intermittent jaundice	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0001046	HP:0001046	Intermittent jaundice	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0001046	HP:0001046	Intermittent jaundice	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0001046	HP:0001046	Intermittent jaundice	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040283 - Occasional	13
HP:0001046	HP:0001046	Intermittent jaundice	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0001046	HP:0001046	Intermittent jaundice	0	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040283 - Occasional	52
HP:0001046	HP:0001046	Intermittent jaundice	0	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040283 - Occasional	60
HP:0001046	HP:0001046	Intermittent jaundice	0	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3		156

Genes (9) :ABCB11 ATP8B1 KCNN4 PIEZO1 RHAG SLC4A1 SLCO1B1 SLCO1B3 SPTB

Diseases (6) :OMIM:601847 OMIM:243300 ORPHA:3202 ORPHA:3203 ORPHA:3111 OMIM:617948

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

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