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 morphology (HP:0410042)

Parent Node:
Abnormal hepatic glycogen storage (HP:0500030)

..Starting node
..Increased hepatic glycogen content (HP:0006568)

Term ID:

6568

Name:

Increased hepatic glycogen content

Synonym:

Increased liver glycogen content

Definition:

An increase in the amount of glycogen stored in hepatocytes compared to normal.

Comments:

Reference:

HP:0006568

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	AKT2 CL E G H	208	293964				ORPHA	1	146	392	164731
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	509	5024	600281
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	PHKB CL E G H	5257	261750	Glycogen storage disease IXb	261750	C0543514	OMIM	1	604	8927	172490
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	PYGL CL E G H	5836	232700	Glycogen storage disease, type VI	232700	C0017925	OMIM	0	324	9725	613741

Genes (4) :AKT2 HNF4A PHKB PYGL

Diseases (4) :293964 263455 261750 232700

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.