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
..Glycogen accumulation in muscle fiber lysosomes (HP:0030231)

Term ID:

30231

Name:

Glycogen accumulation in muscle fiber lysosomes

Synonym:

Glycogen accumulation in muscle fibre lysosomes

Definition:

An increased amount of glycogen in muscle tissue found specifically in lysosomes.

Comments:

Reference:

HP:0030231

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased sarcoplasmic glycogen (HP:0030232)

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:0030231	HP:0030231	Glycogen accumulation in muscle fiber lysosomes	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0030231	HP:0030231	Glycogen accumulation in muscle fiber lysosomes	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040281 - Very frequent	166

Genes (2) :PHKA1 PYGM

Diseases (2) :OMIM:300559 ORPHA:368

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