Human Phenotype Ontology 
Grandparent Node:
expandAbnormal muscle fiber morphology (HP:0004303)help
Parent Node:
expandAbnormal muscle fiber protein expression (HP:0030089)help
..Starting node
..expandAbnormal muscle fiber valosin-containing protein (HP:0030228)help
Term ID: 30228
Name: Abnormal muscle fiber valosin-containing protein
Synonym: Abnormal muscle fibre valosin-containing protein
Definition: A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.
Comments:
Reference: HP:0030228
Genes and Diseases:
 
       Child Nodes:
........expandAccumulation of muscle fiber valosin-containing protein (HP:0030229) help

 Sister Nodes: 
..expandAbnormal muscle fiber alpha dystroglycan (HP:0030112) help
..expandAbnormal muscle fiber alpha sarcoglycan (HP:0030100) help
..expandAbnormal muscle fiber beta sarcoglycan (HP:0030103) help
..expandAbnormal muscle fiber calpain-3 (HP:0030119) help
..expandAbnormal muscle fiber delta sarcoglycan (HP:0030105) help
..expandAbnormal muscle fiber desmin (HP:0030224) help
..expandAbnormal muscle fiber dysferlin (HP:0030113) help
..expandAbnormal muscle fiber dystrophin expression (HP:0030096) help
..expandAbnormal muscle fiber emerin (HP:0030116) help
..expandAbnormal muscle fiber gamma sarcoglycan (HP:0030104) help
..expandAbnormal muscle fiber lamin A/C (HP:0030123) help
..expandAbnormal muscle fiber laminin beta 1 (HP:0030093) help
..expandAbnormal muscle fiber merosin expression (HP:0030090) help
..expandAbnormal muscle fiber myotilin (HP:0030226) help
..expandReduced muscle collagen VI (HP:0030095) help
..expandReduced muscle fiber perlecan (HP:0030122) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030228HP:0030228Abnormal muscle fiber valosin-containing protein0 CL E G H
HP:0030228HP:0030229Accumulation of muscle fiber valosin-containing protein1 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.