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:
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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent	12
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.	101
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040281 - Very frequent	71
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71
HP:0006568	HP:0006568	Increased hepatic glycogen content	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent	110

Genes (11) :AKT2 FARS2 FOCAD HNF4A PGM1 PHKB PHKG2 PYGL SDHA SLC2A2 SLC37A4

Diseases (12) :ORPHA:293964 OMIM:614946 OMIM:619991 ORPHA:263455 OMIM:614921 OMIM:261750 OMIM:613027 ORPHA:369 OMIM:232700 OMIM:619259 ORPHA:2088 ORPHA:79259

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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