Human Phenotype Ontology

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:
Abnormality of digestive system physiology (HP:0025032)

Parent Node:
Abnormality of hepatobiliary system physiology (HP:0025155)

..Starting node
..Decreased mitochondrial complex III activity in liver tissue (HP:0006558)

Term ID:

6558

Name:

Decreased mitochondrial complex III activity in liver tissue

Synonym:

Definition:

Decreased activity of complex III of the mitochondrion in the liver.

Comments:

Reference:

HP:0006558

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased liver function (HP:0001410)

Reye syndrome-like episodes (HP:0006582)

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:0006558	HP:0006558	Decreased mitochondrial complex III activity in liver tissue	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0006558	HP:0006558	Decreased mitochondrial complex III activity in liver tissue	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0006558	HP:0006558	Decreased mitochondrial complex III activity in liver tissue	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11

Genes (3) :BCS1L PNPT1 SLC39A8

Diseases (3) :OMIM:124000 OMIM:614932 ORPHA:468699

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