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 muscle fiber morphology (HP:0004303)

Parent Node:
Abnormal muscle glycogen content (HP:0012269)

..Starting node
..Increased muscle glycogen content (HP:0009051)

Term ID:

9051

Name:

Increased muscle glycogen content

Synonym:

Definition:

An increased amount of glycogen in muscle tissue.

Comments:

Reference:

HP:0009051

Genes and Diseases:

Child Nodes:

........

Glycogen accumulation in muscle fiber lysosomes (HP:0030231)

........

Increased sarcoplasmic glycogen (HP:0030232)

Sister Nodes:

Decreased muscle glycogen content (HP:0012270)

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:0009051	HP:0009051	Increased muscle glycogen content	0	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII	.	34
HP:0009051	HP:0009051	Increased muscle glycogen content	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0009051	HP:0009051	Increased muscle glycogen content	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0009051	HP:0009051	Increased muscle glycogen content	0	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency	HP:0040281 - Very frequent	64
HP:0009051	HP:0009051	Increased muscle glycogen content	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0009051	HP:0009051	Increased muscle glycogen content	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0009051	HP:0009051	Increased muscle glycogen content	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0009051	HP:0009051	Increased muscle glycogen content	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.	101
HP:0009051	HP:0009051	Increased muscle glycogen content	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0009051	HP:0009051	Increased muscle glycogen content	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040281 - Very frequent	166
HP:0009051	HP:0009051	Increased muscle glycogen content	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent	101
HP:0009051	HP:0009051	Increased muscle glycogen content	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent
HP:0009051	HP:0030231	Glycogen accumulation in muscle fiber lysosomes	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0009051	HP:0030232	Increased sarcoplasmic glycogen	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0009051	HP:0030232	Increased sarcoplasmic glycogen	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0009051	HP:0030231	Glycogen accumulation in muscle fiber lysosomes	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040281 - Very frequent	166

Genes (11) :ENO3 GAA MSTO1 PFKM PHKA1 PHKA2 PHKB PHKG2 PYGM TRMU TRNE

Diseases (10) :OMIM:612932 OMIM:232300 ORPHA:502423 ORPHA:371 OMIM:232800 OMIM:300559 ORPHA:264580 OMIM:261750 ORPHA:368 ORPHA:254864

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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