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 nervous system physiology (HP:0012638)

Parent Node:
Encephalopathy (HP:0001298)

..Starting node
..Hepatic encephalopathy (HP:0002480)

Term ID:

2480

Name:

Hepatic encephalopathy

Synonym:

Definition:

Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.

Comments:

Reference:

HP:0002480

Genes and Diseases:

Child Nodes:

........

Chronic hepatic encephalopathy (HP:0007111)

Sister Nodes:

Acute encephalopathy (HP:0006846)

Congenital encephalopathy (HP:0007239)

Epileptic encephalopathy (HP:0200134)

Hypoglycemic encephalopathy (HP:0006929)

Infantile encephalopathy (HP:0007105)

Mitochondrial encephalopathy (HP:0006789)

Necrotizing encephalopathy (HP:0006976)

Nonprogressive encephalopathy (HP:0007030)

Progressive encephalopathy (HP:0002448)

Recurrent encephalopathy (HP:0007335)

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:0002480	HP:0002480	Hepatic encephalopathy	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare	404
HP:0002480	HP:0002480	Hepatic encephalopathy	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent	89
HP:0002480	HP:0002480	Hepatic encephalopathy	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare	65
HP:0002480	HP:0002480	Hepatic encephalopathy	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002480	HP:0002480	Hepatic encephalopathy	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0002480	HP:0002480	Hepatic encephalopathy	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0002480	HP:0002480	Hepatic encephalopathy	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0002480	HP:0002480	Hepatic encephalopathy	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040284 - Very rare	1200
HP:0002480	HP:0002480	Hepatic encephalopathy	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0002480	HP:0002480	Hepatic encephalopathy	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0002480	HP:0002480	Hepatic encephalopathy	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002480	HP:0002480	Hepatic encephalopathy	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0002480	HP:0002480	Hepatic encephalopathy	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002480	HP:0007111	Chronic hepatic encephalopathy	1	CL E G H

Genes (13) :ALMS1 DLD EIF2AK3 FOCAD NBAS PCK1 RINT1 RYR1 SH2D1A SLC25A13 TULP3 XIAP ZNFX1

Diseases (12) :ORPHA:64 ORPHA:2394 ORPHA:1667 OMIM:619991 OMIM:616483 OMIM:261680 OMIM:618641 ORPHA:466650 OMIM:308240 ORPHA:247585 OMIM:619902 OMIM:619644

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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