Human Phenotype Ontology 
Grandparent Node:
expandAbnormal muscle fiber protein expression (HP:0030089)help
Parent Node:
expandAbnormal muscle fiber laminin beta 1 (HP:0030093)help
..Starting node
..expandReduced muscle fiber laminin beta 1 (HP:0030094)help
Term ID: 30094
Name: Reduced muscle fiber laminin beta 1
Synonym: Reduced muscle fibre laminin beta 1
Definition: A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.
Comments:
Reference: HP:0030094
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030094HP:0030094Reduced muscle fiber laminin beta 10 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.