Human Phenotype Ontology 
Grandparent Node:
expandAbnormal muscle fiber morphology (HP:0004303)help
Parent Node:
expandAbnormal muscle fiber protein expression (HP:0030089)help
..Starting node
..expandReduced muscle fiber perlecan (HP:0030122)help
Term ID: 30122
Name: Reduced muscle fiber perlecan
Synonym: Reduced muscle fibre perlecan
Definition: Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).
Comments:
Reference: HP:0030122
Genes and Diseases:
 
       Child Nodes:

 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
..expandAbnormal muscle fiber valosin-containing protein (HP:0030228) help
..expandReduced muscle collagen VI (HP:0030095) 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:0030122HP:0030122Reduced muscle fiber perlecan0 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.