Human Phenotype Ontology

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 protein expression (HP:0030089)

Parent Node:
Abnormal muscle fiber valosin-containing protein (HP:0030228)

..Starting node
..Accumulation of muscle fiber valosin-containing protein (HP:0030229)

Term ID:

30229

Name:

Accumulation of muscle fiber valosin-containing protein

Synonym:

Accumulation of muscle fibre valosin-containing protein

Definition:

Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.

Comments:

Reference:

HP:0030229

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030229	HP:0030229	Accumulation of muscle fiber valosin-containing protein	0	CL E G H

Genes (0) :

Diseases (0) :

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