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

..Starting node
..Skeletal muscle autophagosome accumulation (HP:0025717)

Term ID:

25717

Name:

Skeletal muscle autophagosome accumulation

Synonym:

Autophagic material in muscle biopsy

Definition:

Abnormal accumulation of autophagosomes in skeletal muscle tissue.

Comments:

Reference:

HP:0025717

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025717	HP:0025717	Skeletal muscle autophagosome accumulation	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO

Genes (1) :GGPS1

Diseases (1) :OMIM:619518

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