Human Phenotype Ontology

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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:
Abnormal liver physiology (HP:0031865)

Grandparent Node:
Cholestasis (HP:0001396)

Parent Node:
Intrahepatic cholestasis (HP:0001406)

..Starting node
..Intrahepatic cholestasis with episodic jaundice (HP:0006575)

Term ID:

6575

Name:

Intrahepatic cholestasis with episodic jaundice

Synonym:

Definition:

Comments:

Reference:

HP:0006575

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006575	HP:0006575	Intrahepatic cholestasis with episodic jaundice	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0006575	HP:0006575	Intrahepatic cholestasis with episodic jaundice	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0006575	HP:0006575	Intrahepatic cholestasis with episodic jaundice	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1	.	144

Genes (2) :ASAH1 ATP8B1

Diseases (3) :ORPHA:333 OMIM:243300 OMIM:211600

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