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 glycogen content (HP:0012269)

Parent Node:
Increased muscle glycogen content (HP:0009051)

..Starting node
..Increased sarcoplasmic glycogen (HP:0030232)

Term ID:

30232

Name:

Increased sarcoplasmic glycogen

Synonym:

Definition:

Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.

Comments:

Reference:

HP:0030232

Genes and Diseases:

Child Nodes:

Sister Nodes:

Glycogen accumulation in muscle fiber lysosomes (HP:0030231)

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:0030232	HP:0030232	Increased sarcoplasmic glycogen	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0030232	HP:0030232	Increased sarcoplasmic glycogen	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48

Genes (2) :PHKA2 PHKG2

Diseases (1) :ORPHA:264580

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