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 muscle fiber morphology (HP:0004303)

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

..Starting node
..Decreased muscle glycogen content (HP:0012270)

Term ID:

12270

Name:

Decreased muscle glycogen content

Synonym:

Definition:

A decreased amount of glycogen in muscle tissue.

Comments:

Reference:

HP:0012270

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased muscle glycogen content (HP:0009051)

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:0012270	HP:0012270	Decreased muscle glycogen content	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0012270	HP:0012270	Decreased muscle glycogen content	0	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle		52

Genes (2) :GYG1 GYS1

Diseases (2) :ORPHA:263297 OMIM:611556

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